1. #615993 - BARDET-BIEDL SYNDROME 16; BBS16 OMIM: 615993 2. #615807 - SECKEL SYNDROME 8; SCKL8 OMIM: 615807 3. #300555 - DENT DISEASE 2 Cytogenetic locations: Xq25-q26 OMIM: 300555 4. #616095 - MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D OMIM: 616095 5. #615560 - OTOFACIOCERVICAL SYNDROME 2; OFC2 Cytogenetic locations: 20p11.22 OMIM: 615560 6. #615873 - HELSMOORTEL-VAN DER AA SYNDROME; HVDAS OMIM: 615873 7. #610505 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 Cytogenetic locations: 12q14.1 OMIM: 610505 8. #614947 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Cytogenetic locations: 15q22.31 OMIM: 614947 9. #615157 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 Cytogenetic locations: 17p12 OMIM: 615157 10. #614306 - COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT Cytogenetic locations: 12q13.13 OMIM: 614306 11. #615985 - BARDET-BIEDL SYNDROME 8; BBS8 OMIM: 615985 12. #616230 - EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8 OMIM: 616230 13. #615991 - BARDET-BIEDL SYNDROME 14; BBS14 OMIM: 615991 14. #614756 - CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Cytogenetic locations: 1p36.31-p36.23 OMIM: 614756 15. #614207 - HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Cytogenetic locations: 11p15.4 OMIM: 614207 16. #613180 - POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Cytogenetic locations: 22q11.21 OMIM: 613180 17. #500007 - CYCLIC VOMITING SYNDROME; CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED OMIM: 500007 18. #601390 - VAN MALDERGEM SYNDROME 1; VMLDS1 Cytogenetic locations: 11p15.4 OMIM: 601390 19. #607454 - SPINOCEREBELLAR ATAXIA 21; SCA21 Cytogenetic locations: 7p21.3-p15.1 OMIM: 607454 20. #615546 - VAN MALDERGEM SYNDROME 2; VMLDS2 Cytogenetic locations: 4q28.1 OMIM: 615546 21. #314580 - WIEACKER-WOLFF SYNDROME; WRWF Cytogenetic locations: Xq11.2 OMIM: 314580 22. #600151 - BARDET-BIEDL SYNDROME 3; BBS3 OMIM: 600151 23. #238700 - HYPERLYSINEMIA, TYPE I Cytogenetic locations: 7q31.32 OMIM: 238700 24. #300928 - MENTAL RETARDATION, X-LINKED 101; MRX101 OMIM: 300928 25. #256731 - CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDEDCytogenetic locations: 13q22.3 OMIM: 256731 26. #300257 - DANON DISEASE Cytogenetic locations: Xq24 OMIM: 300257 27. #615502 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Cytogenetic locations: 16q22.1 OMIM: 615502 28. #300271 - MENTAL RETARDATION, X-LINKED 72; MRX72 Cytogenetic locations: Xq28 OMIM: 300271 29. #606937 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5 Cytogenetic locations: 15q25.3 OMIM: 606937 30. #616083 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30 OMIM: 616083 31. #300895 - OHDO SYNDROME, X-LINKED; OHDOX Cytogenetic locations: Xq13.1 OMIM: 300895 32. #300886 - MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 Cytogenetic locations: Xq28 OMIM: 300886 33. #614225 - WARBURG MICRO SYNDROME 2; WARBM2 Cytogenetic locations: 1q41 OMIM: 614225 34. #146390 - CHROMOSOME 18p DELETION SYNDROME Cytogenetic locations: 18p OMIM: 146390 35. #615828 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 OMIM: 615828 36. #614851 - SECKEL SYNDROME 7; SCKL7 Cytogenetic locations: 14q22.1 OMIM: 614851 37. #610688 - JOUBERT SYNDROME 6; JBTS6 Cytogenetic locations: 8q22.1 OMIM: 610688 38. #613735 - CHROMOSOME 1p32-p31 DELETION SYNDROME Cytogenetic locations: 1p32-p31 OMIM: 613735 39. #608782 - PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD Cytogenetic locations: 8q22.1 OMIM: 608782 40. #616482 - ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN OMIM: 616482 41. #613680 - BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS Cytogenetic locations: 1pter-p36.13, 16p13.3 OMIM: 613680 42. #610474 - CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME Cytogenetic locations: 4p16.3 OMIM: 610474 43. #256710 - ELEJALDE DISEASE OMIM: 256710 44. #300004 - CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA Cytogenetic locations: Xp21.3 OMIM: 300004 45. #608840 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Cytogenetic locations: 22q12.3 OMIM: 608840 46. #303110 - CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION Cytogenetic locations: Xq21 OMIM: 303110 47. #604804 - MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3 Cytogenetic locations: 9q33.2 OMIM: 604804 48. #614457 - ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR Cytogenetic locations: 6q14.1 OMIM: 614457 49. #606407 - HYPOTONIA-CYSTINURIA SYNDROME HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDEDCytogenetic locations: 2p21 OMIM: 606407 50. #613458 - CHROMOSOME 16p13.3 DUPLICATION SYNDROME Cytogenetic locations: 16p13.3 OMIM: 613458 51. #266510 - PEROXISOME BIOGENESIS DISORDER 3B; PBD3B Cytogenetic locations: 17q12 OMIM: 266510 52. #615981 - BARDET-BIEDL SYNDROME 2; BBS2 OMIM: 615981 53. #606854 - POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP Cytogenetic locations: 16q21 OMIM: 606854 54. #300673 - ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Cytogenetic locations: Xq28 OMIM: 300673 55. #610532 - LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 Cytogenetic locations: 7p15.3 OMIM: 610532 56. #608093 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J Cytogenetic locations: 11q23.3 OMIM: 608093 57. #214450 - GRISCELLI SYNDROME, TYPE 1; GS1 Cytogenetic locations: 15q21.2 OMIM: 214450 58. #601678 - BARTTER SYNDROME, ANTENATAL, TYPE 1 Cytogenetic locations: 15q21.1 OMIM: 601678 59. #148050 - KBG SYNDROME; KBGS Cytogenetic locations: 16q24.3 OMIM: 148050 60. #600430 - BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR CHROMOSOME 2q37 DELETION SYNDROME, INCLUDEDCytogenetic locations: 2q37.3 OMIM: 600430 61. #612530 - CHROMOSOME 1q41-q42 DELETION SYNDROME Cytogenetic locations: 1q41-q42 OMIM: 612530 62. #277410 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDEDCytogenetic locations: 2q23.2 OMIM: 277410 63. #606812 - FUMARASE DEFICIENCY; FMRD Cytogenetic locations: 1q43 OMIM: 606812 64. #612582 - CHROMOSOME 6pter-p24 DELETION SYNDROME Cytogenetic locations: 6pter-p24 OMIM: 612582 65. #603387 - MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 Cytogenetic locations: 1pter-p36.13, 19p13.11 OMIM: 603387 66. #602473 - ENCEPHALOPATHY, ETHYLMALONIC; EE Cytogenetic locations: 19q13.31 OMIM: 602473 67. #612736 - CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Cytogenetic locations: 19p13.3 OMIM: 612736 68. #179613 - RECOMBINANT CHROMOSOME 8 SYNDROME OMIM: 179613 69. #300653 - PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Cytogenetic locations: Xq21.1 OMIM: 300653 70. #277170 - OROFACIODIGITAL SYNDROME VI; OFD6 OMIM: 277170 71. #609029 - EMANUEL SYNDROME Cytogenetic locations: 22q11.2 OMIM: 609029 72. #218000 - AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN Cytogenetic locations: 15q14 OMIM: 218000 73. #241200 - BARTTER SYNDROME, ANTENATAL, TYPE 2 Cytogenetic locations: 11q24.3 OMIM: 241200 74. #609625 - CHROMOSOME 10q26 DELETION SYNDROME Cytogenetic locations: 10q26 OMIM: 609625 75. #256800 - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA Cytogenetic locations: 1q23.1 OMIM: 256800 76. #207800 - ARGININEMIA Cytogenetic locations: 6q23.2 OMIM: 207800 77. #300243 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Cytogenetic locations: Xq26.3 OMIM: 300243 78. #210200 - 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D Cytogenetic locations: 3q27.1 OMIM: 210200 79. #207900 - ARGININOSUCCINIC ACIDURIA Cytogenetic locations: 7q11.21 OMIM: 207900 80. #237300 - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO Cytogenetic locations: 2q34 OMIM: 237300 81. #609136 - PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH Cytogenetic locations: 22q13.1 OMIM: 609136 82. #600721 - D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 Cytogenetic locations: 2q37.3 OMIM: 600721 83. #245349 - PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD Cytogenetic locations: 11p13 OMIM: 245349 84. #218340 - TEMTAMY SYNDROME; TEMTYS Cytogenetic locations: 12p13.31 OMIM: 218340 85. #605039 - BOHRING-OPITZ SYNDROME; BOPS Cytogenetic locations: 20q11.21 OMIM: 605039 86. #180700 - ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Cytogenetic locations: 3p14.3 OMIM: 180700 87. #157170 - HOLOPROSENCEPHALY 2; HPE2 Cytogenetic locations: 2p21 OMIM: 157170 88. #182212 - SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS Cytogenetic locations: 1p36.33 OMIM: 182212 89. #231550 - ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS ACHALASIA-ALACRIMA SYNDROME, INCLUDEDCytogenetic locations: 12q13.13 OMIM: 231550 90. #602849 - MUENKE SYNDROME; MNKES Cytogenetic locations: 4p16.3 OMIM: 602849 91. #215700 - CITRULLINEMIA, CLASSIC Cytogenetic locations: 9q34.11 OMIM: 215700 92. #256600 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Cytogenetic locations: 22q13.1 OMIM: 256600 93. #277590 - WEAVER SYNDROME; WVS WEAVER-LIKE SYNDROME, INCLUDEDCytogenetic locations: 7q36.1 OMIM: 277590 94. #610883 - POTOCKI-LUPSKI SYNDROME; PTLS Cytogenetic locations: 17p11.2 OMIM: 610883 95. #604369 - SALLA DISEASE; SD Cytogenetic locations: 6q13 OMIM: 604369 96. #230350 - GALACTOSE EPIMERASE DEFICIENCY Cytogenetic locations: 1p36.11 OMIM: 230350 97. #266150 - PYRUVATE CARBOXYLASE DEFICIENCY Cytogenetic locations: 11q13.2 OMIM: 266150 98. #250800 - METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE METHEMOGLOBINEMIA, TYPE I, INCLUDEDCytogenetic locations: 22q13.2 OMIM: 250800 99. #606777 - GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDEDCytogenetic locations: 1p34.2 OMIM: 606777 100. #268310 - ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDEDCytogenetic locations: 9q22.31 OMIM: 268310 101. #300352 - CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Cytogenetic locations: Xq28 OMIM: 300352 102. #601776 - EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1; EDSMC1 Cytogenetic locations: 15q15.1 OMIM: 601776 103. #610443 - KOOLEN-DE VRIES SYNDROME; KDVS Cytogenetic locations: 17q21.31 OMIM: 610443 104. #256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDEDCytogenetic locations: 1p34.2 OMIM: 256730 105. #305450 - OPITZ-KAVEGGIA SYNDROME; OKS Cytogenetic locations: Xq13.1 OMIM: 305450 106. #100300 - ADAMS-OLIVER SYNDROME 1; AOS1 APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDEDCytogenetic locations: 3q13.33 OMIM: 100300 107. #607872 - CHROMOSOME 1p36 DELETION SYNDROME Cytogenetic locations: 1p36 OMIM: 607872 108. #257300 - MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Cytogenetic locations: 15q15.1 OMIM: 257300 109. #602501 - MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP OMIM: 602501 110. #210720 - MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 Cytogenetic locations: 21q22.3 OMIM: 210720 111. #609192 - LOEYS-DIETZ SYNDROME 1; LDS1 Cytogenetic locations: 9q22.33 OMIM: 609192 112. #145410 - OPITZ GBBB SYNDROME, TYPE II; GBBB2 Cytogenetic locations: 22q11.2 OMIM: 145410 113. #607432 - LISSENCEPHALY 1; LIS1 SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDEDCytogenetic locations: 17p13.3 OMIM: 607432 114. #610168 - LOEYS-DIETZ SYNDROME 2; LDS2 Cytogenetic locations: 3p24.1 OMIM: 610168 115. #260400 - SHWACHMAN-DIAMOND SYNDROME; SDS Cytogenetic locations: 7q11.21 OMIM: 260400 116. #277400 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE Cytogenetic locations: 1p34.1 OMIM: 277400 117. #606232 - PHELAN-MCDERMID SYNDROME Cytogenetic locations: 22q13.33 OMIM: 606232 118. #615493 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 Cytogenetic locations: 10q21.2 OMIM: 615493 119. #117550 - SOTOS SYNDROME 1; SOTOS1 Cytogenetic locations: 5q35.2-q35.3 OMIM: 117550 120. #311250 - ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO VALPROATE SENSITIVITY, INCLUDEDCytogenetic locations: Xp11.4 OMIM: 311250 121. #209900 - BARDET-BIEDL SYNDROME 1; BBS1 Cytogenetic locations: 1pter-p36.13, 1p35.1, 1pter-p36.13, 3q11.2, 1pter-p36.13, 3p21.31, 1pter-p36.13, 2q31.1, 1pter-p36.13, 2p15, 1pter-p36.13, 20p12.2, 1pter-p36.13, 17q22, 1pter-p36.13, 16q12.2, 1pter-p36.13, 15q24.1 OMIM: 209900 122. #147920 - KABUKI SYNDROME 1; KABUK1 Cytogenetic locations: 12q13.12 OMIM: 147920 123. #312080 - PELIZAEUS-MERZBACHER DISEASE; PMD Cytogenetic locations: Xq22.2 OMIM: 312080 124. #220110 - MITOCHONDRIAL COMPLEX IV DEFICIENCY Cytogenetic locations: 1pter-p36.13, 19q13.12, 1pter-p36.13, 19p13.2, 1pter-p36.13, 17q23.3, 1pter-p36.13, 17p12 OMIM: 220110 125. #615996 - BARDET-BIEDL SYNDROME 19; BBS19 OMIM: 615996 126. #607014 - HURLER SYNDROME Cytogenetic locations: 4p16.3 OMIM: 607014 127. #105830 - ANGELMAN SYNDROME; AS ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDEDCytogenetic locations: Xp22.13, 1pter-p36.13, 15q11.2 OMIM: 105830 128. #176270 - PRADER-WILLI SYNDROME; PWS PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDEDCytogenetic locations: 1pter-p36.13, 15q11.2 OMIM: 176270 129. #615862 - NEPHRONOPHTHISIS 18; NPHP18 OMIM: 615862 130. #615979 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45 OMIM: 615979 131. #615995 - BARDET-BIEDL SYNDROME 18; BBS18 OMIM: 615995 132. #616460 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50; MRT50 OMIM: 616460 133. #616127 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 OMIM: 616127 134. #609583 - JOUBERT SYNDROME 4; JBTS4 Cytogenetic locations: 2q13 OMIM: 609583 135. #615983 - BARDET-BIEDL SYNDROME 5; BBS5 OMIM: 615983 136. #616094 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12 OMIM: 616094 137. #615879 - TATTON-BROWN-RAHMAN SYNDROME; TBRS OMIM: 615879 138. #616080 - MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12 OMIM: 616080 139. #615871 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24 OMIM: 615871 140. #615160 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5 Cytogenetic locations: 16p12.2 OMIM: 615160 141. #616393 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 OMIM: 616393 142. #615989 - BARDET-BIEDL SYNDROME 12; BBS12 OMIM: 615989 143. #614898 - SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Cytogenetic locations: 8p22 OMIM: 614898 144. #616494 - LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 OMIM: 616494 145. #616267 - ATAXIA-OCULOMOTOR APRAXIA 4; AOA4 OMIM: 616267 146. #615722 - BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS Cytogenetic locations: 5q15 OMIM: 615722 147. #615948 - OROFACIODIGITAL SYNDROME XIV; OFD14 OMIM: 615948 148. #614018 - EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 Cytogenetic locations: 17q21.32 OMIM: 614018 149. #615744 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 Cytogenetic locations: 5q34 OMIM: 615744 150. #174300 - OROFACIODIGITAL SYNDROME V; OFD5 Cytogenetic locations: 1q32.1 OMIM: 174300 151. #615987 - BARDET-BIEDL SYNDROME 10; BBS10 OMIM: 615987 152. #614807 - MYOPATHY, CENTRONUCLEAR, 4; CNM4 Cytogenetic locations: 16p13.3 OMIM: 614807 153. #615761 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Cytogenetic locations: 3p25.3 OMIM: 615761 154. #615994 - BARDET-BIEDL SYNDROME 17; BBS17 OMIM: 615994 155. #614230 - CHROMOSOME 8q21.11 DELETION SYNDROME Cytogenetic locations: 8q21.11 OMIM: 614230 156. #616202 - CEREBELLOFACIODENTAL SYNDROME; CFDS OMIM: 616202 157. #615942 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44 OMIM: 615942 158. #616413 - BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6 OMIM: 616413 159. #616368 - CHOPS SYNDROME; CHOPS OMIM: 616368 160. #616307 - SENIOR-LOKEN SYNDROME 8; SLSN8 OMIM: 616307 161. #615071 - ALAZAMI SYNDROME; ALAZS Cytogenetic locations: 4q25 OMIM: 615071 162. #613206 - SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 Cytogenetic locations: 1q42.13 OMIM: 613206 163. #615005 - EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5 Cytogenetic locations: 9q34.3 OMIM: 615005 164. #615510 - ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR Cytogenetic locations: 2q35 OMIM: 615510 165. #616260 - TENORIO SYNDROME; TNORS OMIM: 616260 166. #613204 - MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY Cytogenetic locations: 12q13.2 OMIM: 613204 167. #615181 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Cytogenetic locations: 1q42.3 OMIM: 615181 168. #615398 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 Cytogenetic locations: 20q13.12 OMIM: 615398 169. #615578 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18 Cytogenetic locations: 10q26.11 OMIM: 615578 170. #616139 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27 OMIM: 616139 171. #615483 - BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 Cytogenetic locations: 22q13.1 OMIM: 615483 172. #612067 - DYSTONIA 16; DYT16 Cytogenetic locations: 2q31.2 OMIM: 612067 173. #615668 - CHROMOSOME 5q12 DELETION SYNDROME Cytogenetic locations: 5q12 OMIM: 615668 174. #616366 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32 OMIM: 616366 175. #615386 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 Cytogenetic locations: 11q13.2 OMIM: 615386 176. #248000 - MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH Cytogenetic locations: 6p24.1 OMIM: 248000 177. #616479 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 OMIM: 616479 178. #615937 - MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2 OMIM: 615937 179. #613451 - FRONTONASAL DYSPLASIA 2; FND2 Cytogenetic locations: 11p11.2 OMIM: 613451 180. #615030 - SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56 Cytogenetic locations: 4q25 OMIM: 615030 181. #601042 - DYSTONIA 9; DYT9 Cytogenetic locations: 1pter-p36.13, 1p34.2 OMIM: 601042 182. #616421 - MYOCLONIC-ATONIC EPILEPSY; MAE OMIM: 616421 183. #616346 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31 OMIM: 616346 184. #613728 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 Cytogenetic locations: 3p22.1 OMIM: 613728 185. #605021 - MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME Cytogenetic locations: 16p13.3 OMIM: 605021 186. #615418 - MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 Cytogenetic locations: 4q35.1 OMIM: 615418 187. #611390 - SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 Cytogenetic locations: 2q33.1 OMIM: 611390 188. #615075 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 Cytogenetic locations: 3p22.1 OMIM: 615075 189. #615547 - SCHAAF-YANG SYNDROME; SHFYNG Cytogenetic locations: 15q11.2 OMIM: 615547 190. #614487 - SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 Cytogenetic locations: 18p11.21 OMIM: 614487 191. #616263 - NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD OMIM: 616263 192. #615244 - NEPHROTIC SYNDROME, TYPE 8; NPHS8 Cytogenetic locations: 17q25.3 OMIM: 615244 193. #310490 - COWCHOCK SYNDROME; COWCK Cytogenetic locations: 1pter-p36.13, Xq24-q26.1 OMIM: 310490 194. #300882 - CORNELIA DE LANGE SYNDROME 5; CDLS5 Cytogenetic locations: Xq13.1 OMIM: 300882 195. #616239 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24 OMIM: 616239 196. #616212 - LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6 OMIM: 616212 197. #300615 - BRUNNER SYNDROME Cytogenetic locations: Xp11.3 OMIM: 300615 198. #233400 - PERRAULT SYNDROME 1; PRLTS1 Cytogenetic locations: 5q23.1 OMIM: 233400 199. #614702 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 Cytogenetic locations: 6q13 OMIM: 614702 200. #600224 - SPINOCEREBELLAR ATAXIA 5; SCA5 Cytogenetic locations: 11q13.2 OMIM: 600224 201. #615355 - NOONAN SYNDROME 8; NS8 Cytogenetic locations: 1q22 OMIM: 615355 202. #607876 - EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Cytogenetic locations: 2p11.1-q12.2 OMIM: 607876 203. #263570 - POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN Cytogenetic locations: 3p12.2 OMIM: 263570 204. #607346 - SPINOCEREBELLAR ATAXIA 19; SCA19 Cytogenetic locations: 1p13.2 OMIM: 607346 205. #615816 - IMMUNODEFICIENCY 23; IMD23 OMIM: 615816 206. #610733 - NOONAN SYNDROME 4; NS4 Cytogenetic locations: 2p22.1 OMIM: 610733 207. #614558 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13 Cytogenetic locations: 12q13.13 OMIM: 614558 208. #616271 - 3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN OMIM: 616271 209. #614613 - ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2 Cytogenetic locations: 5q11.2-q12.1 OMIM: 614613 210. #604213 - CHUDLEY-MCCULLOUGH SYNDROME; CMCS Cytogenetic locations: 1p13.3 OMIM: 604213 211. #117360 - SPINOCEREBELLAR ATAXIA 29; SCA29 Cytogenetic locations: 3p26.1 OMIM: 117360 212. #615768 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16 Cytogenetic locations: 16p13.3 OMIM: 615768 213. #215470 - BOUCHER-NEUHAUSER SYNDROME; BNHS Cytogenetic locations: 19p13.2 OMIM: 215470 214. #615656 - CHROMOSOME 15q11.2 DELETION SYNDROME Cytogenetic locations: 15q11.2 OMIM: 615656 215. #607459 - SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED OMIM: 607459 216. #250950 - 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Cytogenetic locations: 9q22.31 OMIM: 250950 217. #603516 - SPINOCEREBELLAR ATAXIA 10; SCA10 Cytogenetic locations: 22q13.31 OMIM: 603516 218. #252011 - MITOCHONDRIAL COMPLEX II DEFICIENCY Cytogenetic locations: 1pter-p36.13, 19q13.12 OMIM: 252011 219. #300088 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 Cytogenetic locations: Xq22.1 OMIM: 300088 220. #604364 - EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF Cytogenetic locations: 22q12.2-q12.3 OMIM: 604364 221. #612126 - GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 Cytogenetic locations: 1p34.2 OMIM: 612126 222. #146500 - MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 AUTONOMIC FAILURE, PURE, INCLUDEDCytogenetic locations: 4q21.23 OMIM: 146500 223. #607595 - BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD Cytogenetic locations: 13q34 OMIM: 607595 224. #169500 - LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD Cytogenetic locations: 5q23.2 OMIM: 169500 225. #607485 - FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED APHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDEDCytogenetic locations: 17q21.31 OMIM: 607485 226. #164400 - SPINOCEREBELLAR ATAXIA 1; SCA1 Cytogenetic locations: 6p22.3 OMIM: 164400 227. #500003 - STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL OMIM: 500003 228. #614654 - COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 Cytogenetic locations: 16q21 OMIM: 614654 229. #614231 - MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS Cytogenetic locations: 18q21.1 OMIM: 614231 230. #614402 - MICROPHTHALMIA, SYNDROMIC 11; MCOPS11 Cytogenetic locations: 10q25.3 OMIM: 614402 231. #615349 - EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2 Cytogenetic locations: 1p36.33 OMIM: 615349 232. #613404 - ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2 Cytogenetic locations: 14q24.3 OMIM: 613404 233. #300802 - MENTAL RETARDATION, X-LINKED 96; MRX96 Cytogenetic locations: Xp11.23 OMIM: 300802 234. #612938 - GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH; GDFD Cytogenetic locations: 16q12.2 OMIM: 612938 235. #614615 - JOUBERT SYNDROME 17; JBTS17 Cytogenetic locations: 5p13.2 OMIM: 614615 236. #251110 - METHYLMALONIC ACIDURIA, cblB TYPE Cytogenetic locations: 12q24.11 OMIM: 251110 237. #607091 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D Cytogenetic locations: 9p21.1 OMIM: 607091 238. #615763 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5 Cytogenetic locations: 6p25.2 OMIM: 615763 239. #614845 - NEPHRONOPHTHISIS 15; NPHP15 Cytogenetic locations: 11q23.3 OMIM: 614845 240. #607371 - DYSTONIA, JUVENILE-ONSET Cytogenetic locations: 7p22.1 OMIM: 607371 241. #615314 - CRANIOSYNOSTOSIS 3; CRS3 Cytogenetic locations: 15q21.3 OMIM: 615314 242. #615438 - INFANTILE LIVER FAILURE SYNDROME 1; ILFS1 Cytogenetic locations: 5q32 OMIM: 615438 243. #615538 - CHROMOSOME 22q13 DUPLICATION SYNDROME Cytogenetic locations: 22q13 OMIM: 615538 244. #615474 - PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA Cytogenetic locations: 3p21.1 OMIM: 615474 245. #612394 - BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS Cytogenetic locations: 7q22.1 OMIM: 612394 246. #613355 - CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Cytogenetic locations: 17q23.1-q23.2 OMIM: 613355 247. #606744 - SECKEL SYNDROME 2; SCKL2 Cytogenetic locations: 18q11.2 OMIM: 606744 248. #613730 - HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS; HDBSCC Cytogenetic locations: 11q25 OMIM: 613730 249. #614300 - HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY Cytogenetic locations: 10q22.2 OMIM: 614300 250. #615926 - WEBB-DATTANI SYNDROME; WEDAS OMIM: 615926 251. #615273 - CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG Cytogenetic locations: 3p24.2 OMIM: 615273 252. #605309 - MACROCEPHALY/AUTISM SYNDROME Cytogenetic locations: 10q23.31 OMIM: 605309 253. #613320 - SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM OMIM: 613320 254. #608027 - PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 Cytogenetic locations: 7q11-q21 OMIM: 608027 255. #610006 - 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Cytogenetic locations: 10q26.13 OMIM: 610006 256. #551500 - NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA OMIM: 551500 257. #300845 - MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM; MYMY4 Cytogenetic locations: Xq28 OMIM: 300845 258. #123790 - BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS Cytogenetic locations: 10q26.13 OMIM: 123790 259. #610758 - CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 Cytogenetic locations: 19q13.32 OMIM: 610758 260. #611523 - PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Cytogenetic locations: 6q15 OMIM: 611523 261. #262190 - PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Cytogenetic locations: 19p13.2 OMIM: 262190 262. #614946 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14 Cytogenetic locations: 6p25.1 OMIM: 614946 263. #604377 - CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 Cytogenetic locations: 22q13.33 OMIM: 604377 264. #251100 - METHYLMALONIC ACIDURIA, cblA TYPE Cytogenetic locations: 4q31.21 OMIM: 251100 265. #243500 - ISOVALERIC ACIDEMIA; IVA Cytogenetic locations: 15q15.1 OMIM: 243500 266. #613662 - MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Cytogenetic locations: 15q26.1 OMIM: 613662 267. #607625 - NIEMANN-PICK DISEASE, TYPE C2; NPC2 Cytogenetic locations: 14q24.3 OMIM: 607625 268. #248360 - MALONYL-CoA DECARBOXYLASE DEFICIENCY Cytogenetic locations: 16q23.3 OMIM: 248360 269. #616247 - LONG QT SYNDROME 14; LQT14 OMIM: 616247 270. #277380 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE Cytogenetic locations: 6q13 OMIM: 277380 271. #608022 - DIAPHANOSPONDYLODYSOSTOSIS Cytogenetic locations: 7p14.3 OMIM: 608022 272. #614129 - PERRAULT SYNDROME 3; PRLTS3 Cytogenetic locations: 1pter-p36.13, 19p13.3 OMIM: 614129 273. #272300 - SULFOCYSTEINURIA Cytogenetic locations: 12q13.2 OMIM: 272300 274. #613839 - MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY Cytogenetic locations: 5q14.1 OMIM: 613839 275. #249900 - METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Cytogenetic locations: 10q22.1 OMIM: 249900 276. #614976 - CARPENTER SYNDROME 2; CRPT2 Cytogenetic locations: 19q13.2 OMIM: 614976 277. #612940 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B Cytogenetic locations: 17q25.3 OMIM: 612940 278. #614732 - INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES Cytogenetic locations: 11p15.4 OMIM: 614732 279. #311900 - TARP SYNDROME; TARPS Cytogenetic locations: Xp11.23 OMIM: 311900 280. #300867 - KABUKI SYNDROME 2; KABUK2 Cytogenetic locations: Xp11.3 OMIM: 300867 281. #169100 - CHAR SYNDROME Cytogenetic locations: 6p12.3 OMIM: 169100 282. #271665 - SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE Cytogenetic locations: 1q23.3 OMIM: 271665 283. #615433 - CHROMOSOME 3q13.31 DELETION SYNDROME Cytogenetic locations: 3q13.31 OMIM: 615433 284. #613135 - PARKINSONISM-DYSTONIA, INFANTILE; PKDYS Cytogenetic locations: 5p15.33 OMIM: 613135 285. #610131 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Cytogenetic locations: 17q23.3 OMIM: 610131 286. #613989 - DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED; DKCB4, INCLUDEDCytogenetic locations: 5p15.33 OMIM: 613989 287. #615471 - MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 Cytogenetic locations: 6q16.1 OMIM: 615471 288. #615220 - OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Cytogenetic locations: 12q13.12 OMIM: 615220 289. #169400 - PELGER-HUET ANOMALY; PHA Cytogenetic locations: 1q42.12 OMIM: 169400 290. #608156 - NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS Cytogenetic locations: 8q22.1 OMIM: 608156 291. #269921 - SIALURIA Cytogenetic locations: 9p13.3 OMIM: 269921 292. #607694 - LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 Cytogenetic locations: 10q22.3 OMIM: 607694 293. #260600 - LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 Cytogenetic locations: 4q24 OMIM: 260600 294. #269000 - SC PHOCOMELIA SYNDROME Cytogenetic locations: 8p21.1 OMIM: 269000 295. #253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Cytogenetic locations: 21q22.13 OMIM: 253270 296. #222448 - DONNAI-BARROW SYNDROME Cytogenetic locations: 2q31.1 OMIM: 222448 297. #610978 - CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP Cytogenetic locations: 14q13.3 OMIM: 610978 298. #258900 - OROTIC ACIDURIA OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED; OAWA, INCLUDEDCytogenetic locations: 3q21.2 OMIM: 258900 299. #226980 - EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS Cytogenetic locations: 2p11.2 OMIM: 226980 300. #602361 - GRACILE BONE DYSPLASIA; GCLEB Cytogenetic locations: 11q12.1 OMIM: 602361 301. #176450 - CURRARINO SYNDROME SACRAL AGENESIS SYNDROME, INCLUDEDCytogenetic locations: 7q36.3 OMIM: 176450 302. #608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Cytogenetic locations: 20q13.13 OMIM: 608799 303. #277470 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Cytogenetic locations: 17q25.1 OMIM: 277470 304. #614820 - ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2 Cytogenetic locations: 19q13.2 OMIM: 614820 305. #613776 - CHROMOSOME 17p13.1 DELETION SYNDROME Cytogenetic locations: 17p13.1 OMIM: 613776 306. #256500 - NETHERTON SYNDROME; NETH Cytogenetic locations: 5q32 OMIM: 256500 307. #612304 - THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 Cytogenetic locations: 2q14.3 OMIM: 612304 308. #601321 - NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Cytogenetic locations: 17q11.2 OMIM: 601321 309. #615577 - IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Cytogenetic locations: 10q24.32 OMIM: 615577 310. #220111 - LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC Cytogenetic locations: 2p21 OMIM: 220111 311. #608643 - AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Cytogenetic locations: 7p12.1 OMIM: 608643 312. #267000 - PERLMAN SYNDROME; PRLMNS Cytogenetic locations: 2q37.1 OMIM: 267000 313. #268305 - ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES Cytogenetic locations: 17q25.3 OMIM: 268305 314. #208085 - ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 Cytogenetic locations: 15q26.1 OMIM: 208085 315. #616145 - CATEL-MANZKE SYNDROME; CATMANS OMIM: 616145 316. #610377 - MEVALONIC ACIDURIA; MEVA Cytogenetic locations: 12q24.11 OMIM: 610377 317. #231050 - GELEOPHYSIC DYSPLASIA 1; GPHYSD1 Cytogenetic locations: 9q34.2 OMIM: 231050 318. #615190 - DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5; DKCB5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 4, INCLUDED; DKCA4, INCLUDEDCytogenetic locations: 20q13.33 OMIM: 615190 319. #600373 - CODAS SYNDROME OMIM: 600373 320. #216340 - YUNIS-VARON SYNDROME; YVS Cytogenetic locations: 6q21 OMIM: 216340 321. #600001 - HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA Cytogenetic locations: 18q11.2 OMIM: 600001 322. #300000 - OPITZ GBBB SYNDROME, TYPE I; GBBB1 Cytogenetic locations: Xp22.2 OMIM: 300000 323. #219150 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Cytogenetic locations: 10q24.1 OMIM: 219150 324. #249270 - THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Cytogenetic locations: 1q24.2 OMIM: 249270 325. #302950 - CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Cytogenetic locations: Xp22.33 OMIM: 302950 326. #256810 - MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDEDCytogenetic locations: 2p23.3 OMIM: 256810 327. #121050 - ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 Cytogenetic locations: 5q23.3 OMIM: 121050 328. #251290 - BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLCPMG Cytogenetic locations: 5q13.2 OMIM: 251290 329. #269920 - INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Cytogenetic locations: 6q13 OMIM: 269920 330. #170100 - PROLIDASE DEFICIENCY Cytogenetic locations: 19q13.11 OMIM: 170100 331. #259775 - RAINE SYNDROME; RNS Cytogenetic locations: 7p22.3 OMIM: 259775 332. #162300 - MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B MUCOSAL NEUROMA SYNDROME, INCLUDEDCytogenetic locations: 10q11.21 OMIM: 162300 333. #614678 - PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B Cytogenetic locations: 9p13.2 OMIM: 614678 334. #251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDEDCytogenetic locations: 6p12.3 OMIM: 251000 335. #304110 - CRANIOFRONTONASAL SYNDROME; CFNS Cytogenetic locations: Xq13.1 OMIM: 304110 336. #201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD Cytogenetic locations: 12q24.31 OMIM: 201470 337. #201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD Cytogenetic locations: 1p31.1 OMIM: 201450 338. #606176 - DIABETES MELLITUS, PERMANENT NEONATAL; PNDM DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDEDCytogenetic locations: 1pter-p36.13, 11p15.5, 1pter-p36.13, 7p13 OMIM: 606176 339. #243310 - BARAITSER-WINTER SYNDROME 1; BRWS1 Cytogenetic locations: 7p22.1 OMIM: 243310 340. #203700 - MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A Cytogenetic locations: 15q26.1 OMIM: 203700 341. #253260 - BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSETCytogenetic locations: 3p25.1 OMIM: 253260 342. #610125 - MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, INCLUDEDCytogenetic locations: 14q22.3 OMIM: 610125 343. #252500 - MUCOLIPIDOSIS II ALPHA/BETA Cytogenetic locations: 12q23.2 OMIM: 252500 344. #203800 - ALSTROM SYNDROME; ALMS Cytogenetic locations: 2p13.1 OMIM: 203800 345. #236250 - HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDEDCytogenetic locations: 1p36.22 OMIM: 236250 346. #180860 - SILVER-RUSSELL SYNDROME; SRS Cytogenetic locations: 1pter-p36.13, 7p11.2 OMIM: 180860 347. #257220 - NIEMANN-PICK DISEASE, TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE D, INCLUDEDCytogenetic locations: 18q11.2 OMIM: 257220 348. #252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY Cytogenetic locations: 1pter-p36.13, 3p21.31, 1pter-p36.13, 2q33.3, 1pter-p36.13, 2q33.1, 1pter-p36.13, Xq24, 1pter-p36.13, 20p12.1, 1pter-p36.13, 19p13.3, 1pter-p36.13, 18p11.22, 1pter-p36.13, 1q23.3, 1pter-p36.13, 15q15.1 OMIM: 252010 349. #129850 - EDINBURGH MALFORMATION SYNDROME OMIM: 129850 350. #615984 - BARDET-BIEDL SYNDROME 7; BBS7 OMIM: 615984 351. #225250 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5 Cytogenetic locations: 5q35.1 OMIM: 225250 352. #202370 - PEROXISOME BIOGENESIS DISORDER 2B; PBD2B Cytogenetic locations: 12p13.31 OMIM: 202370 353. #615986 - BARDET-BIEDL SYNDROME 9; BBS9 OMIM: 615986 354. #600002 - EIKEN SYNDROME Cytogenetic locations: 3p21.31 OMIM: 600002 355. #300923 - MENTAL RETARDATION, X-LINKED 100; MRX100 OMIM: 300923 356. #614815 - JOUBERT SYNDROME 18; JBTS18 Cytogenetic locations: 10q24.1 OMIM: 614815 357. #615286 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 Cytogenetic locations: 19p13.3 OMIM: 615286 358. #607417 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Cytogenetic locations: 3p26.2 OMIM: 607417 359. #239510 - HYPERPROLINEMIA, TYPE II; HYRPRO2 Cytogenetic locations: 1p36.13 OMIM: 239510 360. #615817 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 OMIM: 615817 361. #611936 - CHROMOSOME 3q29 DUPLICATION SYNDROME Cytogenetic locations: 3q29 OMIM: 611936 362. #615829 - XIA-GIBBS SYNDROME OMIM: 615829 363. #613987 - DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2; DKCB2 Cytogenetic locations: 5q35.3 OMIM: 613987 364. #300915 - MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 Cytogenetic locations: Chr.X OMIM: 300915 365. #304100 - CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Cytogenetic locations: Xq28 OMIM: 304100 366. #615597 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X Cytogenetic locations: 3p23 OMIM: 615597 367. #607906 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I Cytogenetic locations: 9q22.33 OMIM: 607906 368. #300423 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Cytogenetic locations: Xp11.4 OMIM: 300423 369. #615990 - BARDET-BIEDL SYNDROME 13; BBS13 OMIM: 615990 370. #616116 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46 OMIM: 616116 371. #615596 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W Cytogenetic locations: 11q24.2 OMIM: 615596 372. #614651 - COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 Cytogenetic locations: 10p12.1 OMIM: 614651 373. #188025 - THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT Cytogenetic locations: 11q23 OMIM: 188025 374. #616402 - MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14 OMIM: 616402 375. #614067 - SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Cytogenetic locations: 14q12 OMIM: 614067 376. #300863 - CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA Cytogenetic locations: Xp11.23 OMIM: 300863 377. #300534 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ Cytogenetic locations: Xp11.22 OMIM: 300534 378. #614023 - PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Cytogenetic locations: 7p11.2 OMIM: 614023 379. #604278 - RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION Cytogenetic locations: 4q13.3 OMIM: 604278 380. #300436 - MENTAL RETARDATION, X-LINKED 46; MRX46 Cytogenetic locations: Xq26.3 OMIM: 300436 381. #610156 - MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Cytogenetic locations: 9q34.3 OMIM: 610156 382. #300472 - CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Cytogenetic locations: Xq13.1 OMIM: 300472 383. #611092 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6 Cytogenetic locations: 6q16.3 OMIM: 611092 384. #615268 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 Cytogenetic locations: 13q12.13 OMIM: 615268 385. #274900 - THYROID DYSHORMONOGENESIS 5; TDH5 Cytogenetic locations: 15q21.1 OMIM: 274900 386. #615328 - SHAHEEN SYNDROME; SHNS Cytogenetic locations: 13q14.11 OMIM: 615328 387. #614673 - MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8 Cytogenetic locations: 4q12 OMIM: 614673 388. #300558 - MENTAL RETARDATION, X-LINKED 30; MRX30 Cytogenetic locations: Xq23 OMIM: 300558 389. #613671 - MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS Cytogenetic locations: 6q21 OMIM: 613671 390. #300578 - CHROMOSOME Xp11.3 DELETION SYNDROME Cytogenetic locations: Xp11.3 OMIM: 300578 391. #615284 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3 Cytogenetic locations: 22q13.33 OMIM: 615284 392. #300486 - MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Cytogenetic locations: Xq12 OMIM: 300486 393. #300850 - MENTAL RETARDATION, X-LINKED 90; MRX90 Cytogenetic locations: Xq13.1 OMIM: 300850 394. #616269 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48 OMIM: 616269 395. #615350 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Cytogenetic locations: 3p21.31 OMIM: 615350 396. #240800 - HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Cytogenetic locations: 11p15.1 OMIM: 240800 397. #214110 - PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED; CG2, INCLUDEDCytogenetic locations: 12p13.31 OMIM: 214110 398. #615006 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15 Cytogenetic locations: 1p34.1 OMIM: 615006 399. #615637 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41; MRT41 Cytogenetic locations: 19q13.32 OMIM: 615637 400. #615159 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4 Cytogenetic locations: 5q31.1 OMIM: 615159 401. #300919 - MENTAL RETARDATION, X-LINKED 99; MRX99 Cytogenetic locations: Xq28 OMIM: 300919 402. #280000 - COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME Cytogenetic locations: 17p11.2 OMIM: 280000 403. #605259 - SPINOCEREBELLAR ATAXIA 13; SCA13 Cytogenetic locations: 19q13.33 OMIM: 605259 404. #608393 - MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6 Cytogenetic locations: 13q12.12 OMIM: 608393 405. #612713 - KAHRIZI SYNDROME; KHRZ Cytogenetic locations: 4q12 OMIM: 612713 406. #615705 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 Cytogenetic locations: 3q29 OMIM: 615705 407. #276880 - UROCANASE DEFICIENCY; UROCD Cytogenetic locations: 3q21.3 OMIM: 276880 408. #608443 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 Cytogenetic locations: 19p13.12 OMIM: 608443 409. #613151 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 Cytogenetic locations: 1p34.1 OMIM: 613151 410. #614464 - JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDEDCytogenetic locations: 7q32.2 OMIM: 614464 411. #300496 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 Cytogenetic locations: Xq28 OMIM: 300496 412. #300425 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1 Cytogenetic locations: Xq13.1 OMIM: 300425 413. #615703 - MORBID OBESITY AND SPERMATOGENIC FAILURE; MOSPGF Cytogenetic locations: 3q29 OMIM: 615703 414. #616078 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29 OMIM: 616078 415. #615851 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E OMIM: 615851 416. #245348 - PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD Cytogenetic locations: 11q23.1 OMIM: 245348 417. #613068 - NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY Cytogenetic locations: 11q13.4 OMIM: 613068 418. #615541 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39 Cytogenetic locations: 8p12 OMIM: 615541 419. #614833 - POLYMICROGYRIA WITH SEIZURES; PMGYS Cytogenetic locations: 18q22.2 OMIM: 614833 420. #613818 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Cytogenetic locations: 3p21.31 OMIM: 613818 421. #300220 - MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10 Cytogenetic locations: Xp11.22 OMIM: 300220 422. #613090 - BARTTER SYNDROME, TYPE 4B Cytogenetic locations: 1pter-p36.13, 1p36.13 OMIM: 613090 423. #613926 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B Cytogenetic locations: 11q24.2 OMIM: 613926 424. #614839 - HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10 Cytogenetic locations: 12q13.3 OMIM: 614839 425. #613925 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A Cytogenetic locations: 11q24.2 OMIM: 613925 426. #612936 - SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Cytogenetic locations: 7q22.1 OMIM: 612936 427. #615352 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 Cytogenetic locations: 3p21.31 OMIM: 615352 428. #177980 - PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES OMIM: 177980 429. #613804 - MEIER-GORLIN SYNDROME 4; MGORS4 Cytogenetic locations: 16q24.3 OMIM: 613804 430. #615281 - HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL Cytogenetic locations: 2q21.3 OMIM: 615281 431. #300659 - MENTAL RETARDATION, X-LINKED 93; MRX93 Cytogenetic locations: Xq21.1 OMIM: 300659 432. #300676 - MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 Cytogenetic locations: Xq24 OMIM: 300676 433. #236800 - HYDROXYKYNURENINURIA OMIM: 236800 434. #612233 - LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 Cytogenetic locations: 2q33.1 OMIM: 612233 435. #615599 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 Cytogenetic locations: 8q24.12 OMIM: 615599 436. #614202 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15 Cytogenetic locations: 9q34.3 OMIM: 614202 437. #222730 - DICARBOXYLIC AMINOACIDURIA; DCBXA OMIM: 222730 438. #300912 - MENTAL RETARDATION, X-LINKED 98; MRX98 Cytogenetic locations: Xq13.3 OMIM: 300912 439. #613227 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Cytogenetic locations: 8q12.1 OMIM: 613227 440. #608688 - AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Cytogenetic locations: 2q35 OMIM: 608688 441. #615553 - ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS Cytogenetic locations: 1p21.2 OMIM: 615553 442. #602541 - MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC Cytogenetic locations: 22q13.33 OMIM: 602541 443. #603513 - CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 Cytogenetic locations: 2q31.1 OMIM: 603513 444. #615524 - MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Cytogenetic locations: 3p24.2 OMIM: 615524 445. #615663 - WARBURG MICRO SYNDROME 4; WARBM4 Cytogenetic locations: 20p13 OMIM: 615663 446. #251255 - JAWAD SYNDROME; JWDS Cytogenetic locations: 18q11.2 OMIM: 251255 447. #249500 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 Cytogenetic locations: 4q26 OMIM: 249500 448. #613162 - SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 Cytogenetic locations: 1pter-p36.13, 10q24.32-q24.33 OMIM: 613162 449. #300495 - AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 MENTAL RETARDATION, X-LINKED, INCLUDEDCytogenetic locations: Xp22.32-p22.31 OMIM: 300495 450. #120433 - COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1 Cytogenetic locations: 11q22.1-q22.2 OMIM: 120433 451. #615528 - PARKINSON DISEASE 19, JUVENILE-ONSET; PARK19 Cytogenetic locations: 1p31.3 OMIM: 615528 452. #604321 - MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 Cytogenetic locations: 15q15.1 OMIM: 604321 453. #274800 - THYROID DYSHORMONOGENESIS 4; TDH4 Cytogenetic locations: 6q25.1 OMIM: 274800 454. #608097 - PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM Cytogenetic locations: 20q13.13 OMIM: 608097 455. #616418 - HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR OMIM: 616418 456. #614066 - SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Cytogenetic locations: 1p13.2 OMIM: 614066 457. #612447 - SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION Cytogenetic locations: 11q23.2 OMIM: 612447 458. #300831 - CK SYNDROME Cytogenetic locations: Xq28 OMIM: 300831 459. #300869 - CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME Cytogenetic locations: Xq27.3-q28 OMIM: 300869 460. #615516 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 Cytogenetic locations: 15q13.1 OMIM: 615516 461. #614325 - PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2 Cytogenetic locations: 2p16.3 OMIM: 614325 462. #166780 - OTOFACIOCERVICAL SYNDROME 1; OFC1 Cytogenetic locations: 8q13.3 OMIM: 166780 463. #616140 - LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9 OMIM: 616140 464. #600901 - FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Cytogenetic locations: 6p21.31 OMIM: 600901 465. #615351 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Cytogenetic locations: 3p21.31 OMIM: 615351 466. #610188 - JOUBERT SYNDROME 5; JBTS5 Cytogenetic locations: 12q21.32 OMIM: 610188 467. #609528 - CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME Cytogenetic locations: 22q11.21 OMIM: 609528 468. #613398 - WARSAW BREAKAGE SYNDROME; WABS Cytogenetic locations: 12p11.21 OMIM: 613398 469. #614322 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 Cytogenetic locations: 1pter-p36.13, 16q21-q23 OMIM: 614322 470. #609975 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 Cytogenetic locations: 4q25 OMIM: 609975 471. #242600 - IMINOGLYCINURIA Cytogenetic locations: 5p15.33, 1pter-p36.13, 3p21.31 OMIM: 242600 472. #613159 - NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1 Cytogenetic locations: 22q13.2 OMIM: 613159 473. #117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS OMIM: 117650 474. #616222 - TEMPLE SYNDROME OMIM: 616222 475. #609313 - MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK Cytogenetic locations: 7q22.1 OMIM: 609313 476. #309585 - WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Cytogenetic locations: Xq13.1 OMIM: 309585 477. #220500 - DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Cytogenetic locations: 16p13.3 OMIM: 220500 478. #613470 - HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Cytogenetic locations: 19q13.11 OMIM: 613470 479. #612285 - JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDEDCytogenetic locations: 4p15.32 OMIM: 612285 480. #611881 - GLYCOGEN STORAGE DISEASE XII; GSD12 Cytogenetic locations: 16p11.2 OMIM: 611881 481. #612379 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q Cytogenetic locations: 4q12 OMIM: 612379 482. #614831 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Cytogenetic locations: 6q24.3 OMIM: 614831 483. #598500 - WOLFRAM SYNDROME, MITOCHONDRIAL FORM OMIM: 598500 484. #300209 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 Cytogenetic locations: Xp22.2 OMIM: 300209 485. #616154 - PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD OMIM: 616154 486. #613174 - CHROMOSOME 5p13 DUPLICATION SYNDROME Cytogenetic locations: 5p13 OMIM: 613174 487. #613811 - PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Cytogenetic locations: 4p15.2 OMIM: 613811 488. #614961 - PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Cytogenetic locations: 16q24.3 OMIM: 614961 489. #300607 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 Cytogenetic locations: Xq11.1-q11.2 OMIM: 300607 490. #602032 - ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4 Cytogenetic locations: 12q13.13 OMIM: 602032 491. #609152 - HYPERTHYROIDISM, NONAUTOIMMUNE Cytogenetic locations: 14q31.1 OMIM: 609152 492. #608328 - WEILL-MARCHESANI SYNDROME 2; WMS2 Cytogenetic locations: 15q21.1 OMIM: 608328 493. #300801 - CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Cytogenetic locations: Xp11.23-p11.22 OMIM: 300801 494. #614326 - FEINGOLD SYNDROME 2; FGLDS2 Cytogenetic locations: 13q31.3 OMIM: 614326 495. #255995 - NATIVE AMERICAN MYOPATHY; NAM Cytogenetic locations: 12q13.3 OMIM: 255995 496. #613744 - SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 Cytogenetic locations: 15q21.2 OMIM: 613744 497. #103050 - ADENYLOSUCCINASE DEFICIENCY Cytogenetic locations: 22q13.1 OMIM: 103050 498. #609195 - SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 Cytogenetic locations: 1pter-p36.13, 12p11.1-q14 OMIM: 609195 499. #245800 - LAURENCE-MOON SYNDROME; LNMS OMIM: 245800 500. #614039 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 Cytogenetic locations: 16q24.3 OMIM: 614039 501. #616171 - MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 OMIM: 616171 502. #614559 - INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD Cytogenetic locations: 22q13.2 OMIM: 614559 503. #613477 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5 Cytogenetic locations: 9q34.11 OMIM: 613477 504. #607721 - NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH Cytogenetic locations: 10q25.2 OMIM: 607721 505. #613150 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Cytogenetic locations: 14q24.3 OMIM: 613150 506. #615982 - BARDET-BIEDL SYNDROME 4; BBS4 OMIM: 615982 507. #261630 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Cytogenetic locations: 4p15.32 OMIM: 261630 508. #104290 - ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 Cytogenetic locations: 1q23.2 OMIM: 104290 509. #605231 - BARDET-BIEDL SYNDROME 6; BBS6 OMIM: 605231 510. #615369 - EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC Cytogenetic locations: 15q26.1 OMIM: 615369 511. #612079 - ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES Cytogenetic locations: 7q32.1 OMIM: 612079 512. #276710 - TYROSINEMIA, TYPE III; TYRSN3 Cytogenetic locations: 12q24.31 OMIM: 276710 513. #613161 - BETA-UREIDOPROPIONASE DEFICIENCY Cytogenetic locations: 22q11.23 OMIM: 613161 514. #609307 - SPINOCEREBELLAR ATAXIA 27; SCA27 Cytogenetic locations: 13q33.1 OMIM: 609307 515. #615084 - MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11 Cytogenetic locations: 20p11.23 OMIM: 615084 516. #141750 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED Cytogenetic locations: 16pter-p13.3 OMIM: 141750 517. #274400 - THYROID DYSHORMONOGENESIS 1; TDH1 Cytogenetic locations: 19p13.11 OMIM: 274400 518. #610003 - CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT Cytogenetic locations: 8p23.3 OMIM: 610003 519. #301900 - BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS Cytogenetic locations: Xq26.2 OMIM: 301900 520. #602485 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 Cytogenetic locations: 7p13 OMIM: 602485 521. #607095 - ANAUXETIC DYSPLASIA Cytogenetic locations: 9p13.3 OMIM: 607095 522. #607330 - LATHOSTEROLOSIS Cytogenetic locations: 11q23.3 OMIM: 607330 523. #610031 - POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA Cytogenetic locations: 6p25.2 OMIM: 610031 524. #262000 - BJORNSTAD SYNDROME; BJS Cytogenetic locations: 2q35 OMIM: 262000 525. #311510 - WAISMAN SYNDROME; WSMN Cytogenetic locations: Xq28 OMIM: 311510 526. #251270 - MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1 Cytogenetic locations: 22q13.33 OMIM: 251270 527. #300055 - MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION, X-LINKED 79; MRX79Cytogenetic locations: Xq28 OMIM: 300055 528. #614222 - WARBURG MICRO SYNDROME 3; WARBM3 Cytogenetic locations: 10p12.1 OMIM: 614222 529. #601088 - AYME-GRIPP SYNDROME; AYGRP OMIM: 601088 530. #300860 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Cytogenetic locations: Xq24 OMIM: 300860 531. #612075 - MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B, INCLUDEDCytogenetic locations: 8q22.3 OMIM: 612075 532. #275100 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDEDCytogenetic locations: 1p13.2 OMIM: 275100 533. #614098 - KEPPEN-LUBINSKY SYNDROME; KPLBS OMIM: 614098 534. #613154 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Cytogenetic locations: 22q12.3 OMIM: 613154 535. #613026 - CHROMOSOME 19q13.11 DELETION SYNDROME Cytogenetic locations: 19q13.11 OMIM: 613026 536. #271930 - STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Cytogenetic locations: 19q13.33 OMIM: 271930 537. #614069 - IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2 Cytogenetic locations: 6q21 OMIM: 614069 538. #611091 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 Cytogenetic locations: 5p15.31 OMIM: 611091 539. #303350 - MASA SYNDROME Cytogenetic locations: Xq28 OMIM: 303350 540. #612462 - PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C Cytogenetic locations: 20q13.32 OMIM: 612462 541. #614424 - JOUBERT SYNDROME 14; JBTS14 Cytogenetic locations: 2q33.1 OMIM: 614424 542. #265050 - 3MC SYNDROME 2; 3MC2 Cytogenetic locations: 2p25.3 OMIM: 265050 543. #613402 - MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Cytogenetic locations: 19q13.33 OMIM: 613402 544. #219500 - CYSTATHIONINURIA Cytogenetic locations: 1p31.1 OMIM: 219500 545. #610185 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Cytogenetic locations: 17p13.3 OMIM: 610185 546. #300953 - TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5 OMIM: 300953 547. #203750 - ALPHA-METHYLACETOACETIC ACIDURIA Cytogenetic locations: 11q22.3 OMIM: 203750 548. #614526 - CHROMOSOME 17q12 DUPLICATION SYNDROME Cytogenetic locations: 17q12 OMIM: 614526 549. #612016 - COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 Cytogenetic locations: 1q42.13 OMIM: 612016 550. #244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS OMIM: 244450 551. #204750 - 2-@AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD Cytogenetic locations: 10p14 OMIM: 204750 552. #616113 - POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS OMIM: 616113 553. #610651 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDEDCytogenetic locations: 2q14.3 OMIM: 610651 554. #616455 - ZIMMERMANN-LABAND SYNDROME 2; ZLS2 OMIM: 616455 555. #607596 - PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A Cytogenetic locations: 14q32.2 OMIM: 607596 556. #615033 - SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Cytogenetic locations: 8p11.23 OMIM: 615033 557. #307000 - HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDEDCytogenetic locations: Xq28 OMIM: 307000 558. #600462 - MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 Cytogenetic locations: 12q24.33 OMIM: 600462 559. #275630 - CHANARIN-DORFMAN SYNDROME; CDS Cytogenetic locations: 3p21.33 OMIM: 275630 560. #259770 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG Cytogenetic locations: 11q13.2 OMIM: 259770 561. #615777 - DESBUQUOIS DYSPLASIA 2; DBQD2 Cytogenetic locations: 16p12.3 OMIM: 615777 562. #236600 - HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 Cytogenetic locations: 14q32.11 OMIM: 236600 563. #227646 - FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Cytogenetic locations: 3p25.3 OMIM: 227646 564. #253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 Cytogenetic locations: 1p34.1 OMIM: 253280 565. #300475 - DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDEDCytogenetic locations: Xq28 OMIM: 300475 566. #613153 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Cytogenetic locations: 19q13.32 OMIM: 613153 567. #612621 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 Cytogenetic locations: 6p21.32 OMIM: 612621 568. #309530 - MENTAL RETARDATION, X-LINKED 1; MRX1 MENTAL RETARDATION, X-LINKED 18, INCLUDED; MRX18, INCLUDEDCytogenetic locations: Xp11.22 OMIM: 309530 569. #309580 - MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Cytogenetic locations: Xq21.1 OMIM: 309580 570. #222748 - DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD Cytogenetic locations: 8q22.3 OMIM: 222748 571. #220120 - D-GLYCERIC ACIDURIA Cytogenetic locations: 3p21.1 OMIM: 220120 572. #614019 - LISSENCEPHALY 4; LIS4 Cytogenetic locations: 16p13.11 OMIM: 614019 573. #125800 - DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Cytogenetic locations: 12q13.12 OMIM: 125800 574. #257920 - 3MC SYNDROME 1; 3MC1 Cytogenetic locations: 3q27.3 OMIM: 257920 575. #309510 - PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Cytogenetic locations: Xp21.3 OMIM: 309510 576. #309541 - METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE Cytogenetic locations: Xq28 OMIM: 309541 577. #600513 - EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 Cytogenetic locations: 20q13.33 OMIM: 600513 578. #615630 - SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 Cytogenetic locations: 2p23.3 OMIM: 615630 579. #610127 - CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDEDCytogenetic locations: 11p15.5 OMIM: 610127 580. #133540 - COCKAYNE SYNDROME B; CSB Cytogenetic locations: 10q11.23 OMIM: 133540 581. #612780 - SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES Cytogenetic locations: 1q23.2 OMIM: 612780 582. #309500 - RENPENNING SYNDROME 1; RENS1 Cytogenetic locations: Xp11.23 OMIM: 309500 583. #607341 - FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIA, INCLUDEDCytogenetic locations: 9q34.13 OMIM: 607341 584. #612463 - PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP OMIM: 612463 585. #616033 - MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM; MSSGM OMIM: 616033 586. #614563 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Cytogenetic locations: 14q32.31 OMIM: 614563 587. #241410 - HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD Cytogenetic locations: 1q42.3 OMIM: 241410 588. #611726 - EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 Cytogenetic locations: 7q11.21 OMIM: 611726 589. #609033 - POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 Cytogenetic locations: 1q32.3 OMIM: 609033 590. #255800 - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Cytogenetic locations: 1p36.12 OMIM: 255800 591. #614739 - 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL Cytogenetic locations: 6q25.3 OMIM: 614739 592. #613670 - MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Cytogenetic locations: 3p13 OMIM: 613670 593. #300699 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW Cytogenetic locations: Xq25 OMIM: 300699 594. #235800 - HISTIDINEMIA Cytogenetic locations: 12q23.1 OMIM: 235800 595. #613156 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Cytogenetic locations: 14q24.3 OMIM: 613156 596. #602535 - MARSHALL-SMITH SYNDROME; MRSHSS Cytogenetic locations: 19p13.2 OMIM: 602535 597. #224230 - DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1; DKCB1 Cytogenetic locations: 15q14 OMIM: 224230 598. #601815 - PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD Cytogenetic locations: 1p12 OMIM: 601815 599. #613884 - CHROMOSOME 13q14 DELETION SYNDROME Cytogenetic locations: 13q14 OMIM: 613884 600. #606612 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Cytogenetic locations: 19q13.32 OMIM: 606612 601. #608629 - JOUBERT SYNDROME 3; JBTS3 Cytogenetic locations: 6q23.3 OMIM: 608629 602. #612513 - CHROMOSOME 2p16.1-p15 DELETION SYNDROME Cytogenetic locations: 2p16.1-p15 OMIM: 612513 603. #603671 - ACROMELIC FRONTONASAL DYSOSTOSIS; AFND OMIM: 603671 604. #255200 - MYOPATHY, CENTRONUCLEAR, 2; CNM2 Cytogenetic locations: 2q14.3 OMIM: 255200 605. #609460 - GOLDBERG-SHPRINTZEN SYNDROME; GOSHS Cytogenetic locations: 10q22.1 OMIM: 609460 606. #266130 - GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD Cytogenetic locations: 20q11.22 OMIM: 266130 607. #301835 - ARTS SYNDROME; ARTS Cytogenetic locations: Xq22.3 OMIM: 301835 608. #275400 - OLIVER-MCFARLANE SYNDROME; OMCS OMIM: 275400 609. #613684 - RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 Cytogenetic locations: 22q13.2 OMIM: 613684 610. #608033 - ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 Cytogenetic locations: 2q12.3 OMIM: 608033 611. #609425 - CHROMOSOME 3q29 DELETION SYNDROME Cytogenetic locations: 3q29 OMIM: 609425 612. #277600 - WEILL-MARCHESANI SYNDROME 1; WMS1 Cytogenetic locations: 19p13.2 OMIM: 277600 613. #613604 - CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB Cytogenetic locations: 16p12.2-p11.2 OMIM: 613604 614. #227645 - FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Cytogenetic locations: 9q22.32 OMIM: 227645 615. #252940 - MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Cytogenetic locations: 12q14.3 OMIM: 252940 616. #601358 - NICOLAIDES-BARAITSER SYNDROME; NCBRS Cytogenetic locations: 9p24.3 OMIM: 601358 617. #612626 - CHROMOSOME 15q26-qter DELETION SYNDROME Cytogenetic locations: 15q26-qter OMIM: 612626 618. #612718 - CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 Cytogenetic locations: 15q21.1 OMIM: 612718 619. #305620 - FRONTOMETAPHYSEAL DYSPLASIA; FMD Cytogenetic locations: Xq28 OMIM: 305620 620. #309583 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Cytogenetic locations: Xp22.11 OMIM: 309583 621. #266100 - EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Cytogenetic locations: 5q23.2 OMIM: 266100 622. #231070 - GERODERMA OSTEODYSPLASTICUM; GO Cytogenetic locations: 1q24.2 OMIM: 231070 623. #611603 - LISSENCEPHALY 3; LIS3 Cytogenetic locations: 12q13.12 OMIM: 611603 624. #608654 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 Cytogenetic locations: 1p13.2 OMIM: 608654 625. #212720 - MARTSOLF SYNDROME Cytogenetic locations: 1q41 OMIM: 212720 626. #610198 - 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 Cytogenetic locations: 3q26.33 OMIM: 610198 627. #222765 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 Cytogenetic locations: 1q42.2 OMIM: 222765 628. #309520 - LUJAN-FRYNS SYNDROME Cytogenetic locations: Xq13.1 OMIM: 309520 629. #609308 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Cytogenetic locations: 9q34.13 OMIM: 609308 630. #304340 - PETTIGREW SYNDROME; PGS Cytogenetic locations: Xq25-q27 OMIM: 304340 631. #615636 - JOUBERT SYNDROME 21; JBTS21 Cytogenetic locations: 8q13.1-q13.2 OMIM: 615636 632. #252605 - MUCOLIPIDOSIS III GAMMA Cytogenetic locations: 16p13.3 OMIM: 252605 633. #500001 - LEBER OPTIC ATROPHY AND DYSTONIA OMIM: 500001 634. #608747 - INSULIN-LIKE GROWTH FACTOR I DEFICIENCY Cytogenetic locations: 12q23.2 OMIM: 608747 635. #300894 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 Cytogenetic locations: Xp11.23 OMIM: 300894 636. #612073 - MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5 Cytogenetic locations: 13q14.2 OMIM: 612073 637. #194072 - WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR Cytogenetic locations: 11p13 OMIM: 194072 638. #614409 - SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46 Cytogenetic locations: 9p13.3 OMIM: 614409 639. #613192 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 Cytogenetic locations: 8q24.3 OMIM: 613192 640. #614114 - MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 Cytogenetic locations: 11q21 OMIM: 614114 641. #611816 - TEMPLE-BARAITSER SYNDROME; TMBTS OMIM: 611816 642. #206920 - MICROPHTHALMIA WITH LIMB ANOMALIES Cytogenetic locations: 14q24.2 OMIM: 206920 643. #276600 - TYROSINEMIA, TYPE II; TYRSN2 Cytogenetic locations: 16q22.2 OMIM: 276600 644. #270700 - SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 Cytogenetic locations: 14q24.1 OMIM: 270700 645. #251300 - GALLOWAY-MOWAT SYNDROME; GAMOS OMIM: 251300 646. #615035 - SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 Cytogenetic locations: 12q24.31 OMIM: 615035 647. #604317 - MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 Cytogenetic locations: 19q13.12 OMIM: 604317 648. #612475 - CHROMOSOME 1q21.1 DUPLICATION SYNDROME Cytogenetic locations: 1q21.1 OMIM: 612475 649. #101800 - ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Cytogenetic locations: 17q24.2 OMIM: 101800 650. #613155 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Cytogenetic locations: 9q34.13 OMIM: 613155 651. #615846 - AICARDI-GOUTIERES SYNDROME 7; AGS7 OMIM: 615846 652. #248700 - MARDEN-WALKER SYNDROME; MWKS OMIM: 248700 653. #614643 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Cytogenetic locations: 7p21.2 OMIM: 614643 654. #207410 - ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 OMIM: 207410 655. #602522 - BARTTER SYNDROME, TYPE 4A SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDEDCytogenetic locations: 1p32.3 OMIM: 602522 656. #259050 - OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES OMIM: 259050 657. #221750 - PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Cytogenetic locations: 9q34.3 OMIM: 221750 658. #148820 - WAARDENBURG SYNDROME, TYPE 3; WS3 Cytogenetic locations: 2q36.1 OMIM: 148820 659. #608233 - HERMANSKY-PUDLAK SYNDROME 2; HPS2 Cytogenetic locations: 5q14.1 OMIM: 608233 660. #611584 - WAARDENBURG SYNDROME, TYPE 2E; WS2E Cytogenetic locations: 22q13.1 OMIM: 611584 661. #604004 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 Cytogenetic locations: 22q13.33 OMIM: 604004 662. #158170 - CHROMOSOME 9p DELETION SYNDROME Cytogenetic locations: 9p OMIM: 158170 663. #613720 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 Cytogenetic locations: 20q13.33 OMIM: 613720 664. #270200 - SJOGREN-LARSSON SYNDROME; SLS Cytogenetic locations: 17p11.2 OMIM: 270200 665. #269700 - LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Cytogenetic locations: 11q12.3 OMIM: 269700 666. #608091 - JOUBERT SYNDROME 2; JBTS2 Cytogenetic locations: 11q12.2 OMIM: 608091 667. #229050 - FOLATE MALABSORPTION, HEREDITARY Cytogenetic locations: 17q11.2 OMIM: 229050 668. #123500 - CROUZON SYNDROME Cytogenetic locations: 10q26.13 OMIM: 123500 669. #275350 - TRANSCOBALAMIN II DEFICIENCY Cytogenetic locations: 22q12.2 OMIM: 275350 670. #259730 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Cytogenetic locations: 8q21.2 OMIM: 259730 671. #250850 - METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Cytogenetic locations: 10q23.1 OMIM: 250850 672. #245400 - MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 Cytogenetic locations: 2p11.2 OMIM: 245400 673. #228000 - FARBER LIPOGRANULOMATOSIS; FRBRL Cytogenetic locations: 8p22 OMIM: 228000 674. #300438 - 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY Cytogenetic locations: Xp11.22 OMIM: 300438 675. #233910 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDEDCytogenetic locations: 14q22.2 OMIM: 233910 676. #612164 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 Cytogenetic locations: 9q34.11 OMIM: 612164 677. #612337 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDEDCytogenetic locations: 1pter-p36.13, 1q43-q44 OMIM: 612337 678. #311300 - OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDEDCytogenetic locations: Xq28 OMIM: 311300 679. #309800 - MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 Cytogenetic locations: 1pter-p36.13, Xq27-q28 OMIM: 309800 680. #611225 - SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 Cytogenetic locations: 8p11.23 OMIM: 611225 681. #604168 - CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN Cytogenetic locations: 18q23 OMIM: 604168 682. #212066 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A Cytogenetic locations: 14q21.3 OMIM: 212066 683. #613179 - PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Cytogenetic locations: 14q11.2 OMIM: 613179 684. #150250 - LARSEN SYNDROME; LRS Cytogenetic locations: 3p14.3 OMIM: 150250 685. #214150 - CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Cytogenetic locations: 10q11.23 OMIM: 214150 686. #236792 - L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA Cytogenetic locations: 14q21.3 OMIM: 236792 687. #604292 - ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 Cytogenetic locations: 3q28 OMIM: 604292 688. #212112 - CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM OMIM: 212112 689. #271980 - SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Cytogenetic locations: 6p22.3 OMIM: 271980 690. #606762 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 Cytogenetic locations: 10q23.2 OMIM: 606762 691. #307030 - GLYCEROL KINASE DEFICIENCY; GKD Cytogenetic locations: Xp21.2 OMIM: 307030 692. #300143 - MENTAL RETARDATION, X-LINKED 21; MRX21 Cytogenetic locations: Xp21.3-p21.2 OMIM: 300143 693. #601224 - POTOCKI-SHAFFER SYNDROME Cytogenetic locations: 11p11.2 OMIM: 601224 694. #213980 - CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR OMIM: 213980 695. #216360 - COACH SYNDROME Cytogenetic locations: 4p15.32, 1pter-p36.13, 16q12.2 OMIM: 216360 696. #272440 - FILIPPI SYNDROME; FLPIS OMIM: 272440 697. #264470 - PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Cytogenetic locations: 17q25.1 OMIM: 264470 698. #301040 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Cytogenetic locations: Xq21.1 OMIM: 301040 699. #218600 - BALLER-GEROLD SYNDROME; BGS Cytogenetic locations: 8q24.3 OMIM: 218600 700. #613454 - RETT SYNDROME, CONGENITAL VARIANT Cytogenetic locations: 14q12 OMIM: 613454 701. #151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD Cytogenetic locations: 8q22.1 OMIM: 151050 702. #156200 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDEDCytogenetic locations: 2q23.1 OMIM: 156200 703. #185300 - STURGE-WEBER SYNDROME; SWS Cytogenetic locations: 9q21.2 OMIM: 185300 704. #303600 - COFFIN-LOWRY SYNDROME; CLS Cytogenetic locations: Xp22.12 OMIM: 303600 705. #302350 - NANCE-HORAN SYNDROME; NHS Cytogenetic locations: Xp22.13 OMIM: 302350 706. #193700 - ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Cytogenetic locations: 17p13.1 OMIM: 193700 707. #613406 - CHROMOSOME 15q24 DELETION SYNDROME CHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDEDCytogenetic locations: 15q24 OMIM: 613406 708. #269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME Cytogenetic locations: 18q12.3 OMIM: 269150 709. #248510 - MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB Cytogenetic locations: 4q24 OMIM: 248510 710. #308050 - CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Cytogenetic locations: Xq28 OMIM: 308050 711. #239500 - HYPERPROLINEMIA, TYPE I; HYRPRO1 Cytogenetic locations: 22q11.21 OMIM: 239500 712. #610253 - KLEEFSTRA SYNDROME Cytogenetic locations: 9q34.3 OMIM: 610253 713. #252920 - MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Cytogenetic locations: 17q21.2 OMIM: 252920 714. #609241 - SCHINDLER DISEASE, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDEDCytogenetic locations: 22q13.2 OMIM: 609241 715. #613457 - CHROMOSOME 14q11-q22 DELETION SYNDROME Cytogenetic locations: 14q11-q22 OMIM: 613457 716. #300661 - PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDEDCytogenetic locations: Xq22.3 OMIM: 300661 717. #235510 - HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1; HKLLS1 Cytogenetic locations: 18q21.32 OMIM: 235510 718. #278760 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS, INCLUDEDCytogenetic locations: 16p13.12 OMIM: 278760 719. #245150 - KEUTEL SYNDROME; KTLS Cytogenetic locations: 12p12.3 OMIM: 245150 720. #261540 - PETERS-PLUS SYNDROME Cytogenetic locations: 13q12.3 OMIM: 261540 721. #239850 - CANTU SYNDROME Cytogenetic locations: 12p12.1 OMIM: 239850 722. #230650 - GM1-GANGLIOSIDOSIS, TYPE III Cytogenetic locations: 3p22.3 OMIM: 230650 723. #300354 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC Cytogenetic locations: Xq24 OMIM: 300354 724. #146000 - HYPOCHONDROPLASIA; HCH Cytogenetic locations: 4p16.3 OMIM: 146000 725. #312920 - SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 Cytogenetic locations: Xq22.2 OMIM: 312920 726. #605130 - HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY Cytogenetic locations: 11q23.3 OMIM: 605130 727. #224050 - CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 Cytogenetic locations: 9p24.2 OMIM: 224050 728. #208050 - ARTERIAL TORTUOSITY SYNDROME; ATS Cytogenetic locations: 20q13.12 OMIM: 208050 729. #274270 - DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY 5-@FLUOROURACIL TOXICITY, INCLUDEDCytogenetic locations: 1p21.3 OMIM: 274270 730. #272200 - MULTIPLE SULFATASE DEFICIENCY; MSD Cytogenetic locations: 3p26.1 OMIM: 272200 731. #609637 - HOLOPROSENCEPHALY 5; HPE5 Cytogenetic locations: 13q32.3 OMIM: 609637 732. #151100 - LEOPARD SYNDROME 1; LPRD1 Cytogenetic locations: 12q24.13 OMIM: 151100 733. #136760 - FRONTONASAL DYSPLASIA 1; FND1 Cytogenetic locations: 1p13.3 OMIM: 136760 734. #613443 - MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDEDCytogenetic locations: 5q14.3 OMIM: 613443 735. #226750 - KOHLSCHUTTER-TONZ SYNDROME; KTZS Cytogenetic locations: 16p13.3 OMIM: 226750 736. #208400 - ASPARTYLGLUCOSAMINURIA; AGU Cytogenetic locations: 4q34.3 OMIM: 208400 737. #243800 - JOHANSON-BLIZZARD SYNDROME; JBS Cytogenetic locations: 15q15.2 OMIM: 243800 738. #256850 - GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1 Cytogenetic locations: 16q23.2 OMIM: 256850 739. #309548 - MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE Cytogenetic locations: Xq28 OMIM: 309548 740. #601803 - PALLISTER-KILLIAN SYNDROME; PKS HEXASOMY 12p, MOSAIC, INCLUDEDCytogenetic locations: 12p OMIM: 601803 741. #239300 - HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 Cytogenetic locations: 1p36.11 OMIM: 239300 742. #608716 - MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 Cytogenetic locations: 1q31.3 OMIM: 608716 743. #135500 - ZIMMERMANN-LABAND SYNDROME 1; ZLS1 Cytogenetic locations: 3p14.3 OMIM: 135500 744. #271245 - MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 Cytogenetic locations: 10q24.31 OMIM: 271245 745. #257200 - NIEMANN-PICK DISEASE, TYPE A NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDEDCytogenetic locations: 11p15.4 OMIM: 257200 746. #253220 - MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Cytogenetic locations: 7q11.21 OMIM: 253220 747. #230500 - GM1-GANGLIOSIDOSIS, TYPE I GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDEDCytogenetic locations: 3p22.3 OMIM: 230500 748. #206700 - ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION Cytogenetic locations: 11p13 OMIM: 206700 749. #238970 - HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME Cytogenetic locations: 13q14.11 OMIM: 238970 750. #229600 - FRUCTOSE INTOLERANCE, HEREDITARY Cytogenetic locations: 9q31.1 OMIM: 229600 751. #256040 - AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD Cytogenetic locations: 6p21.32 OMIM: 256040 752. #152950 - MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Cytogenetic locations: 10q23.33 OMIM: 152950 753. #175780 - PORENCEPHALY 1; POREN1 Cytogenetic locations: 13q34 OMIM: 175780 754. #251200 - MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 Cytogenetic locations: 8p23.1 OMIM: 251200 755. #236670 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 Cytogenetic locations: 9q34.13 OMIM: 236670 756. #300749 - MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Cytogenetic locations: Xp11.4 OMIM: 300749 757. #612474 - CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB Cytogenetic locations: 1q21.1 OMIM: 612474 758. #612438 - LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 Cytogenetic locations: 19p13.3 OMIM: 612438 759. #600118 - WARBURG MICRO SYNDROME 1; WARBM1 Cytogenetic locations: 2q21.3 OMIM: 600118 760. #124200 - DARIER-WHITE DISEASE; DAR DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDEDCytogenetic locations: 12q24.11 OMIM: 124200 761. #210600 - SECKEL SYNDROME 1; SCKL1 Cytogenetic locations: 3q23 OMIM: 210600 762. #305400 - AARSKOG-SCOTT SYNDROME; AAS FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDEDCytogenetic locations: Xp11.22 OMIM: 305400 763. #200990 - ACROCALLOSAL SYNDROME; ACLS JOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDEDCytogenetic locations: 15q26.1 OMIM: 200990 764. #163200 - SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM Cytogenetic locations: 1pter-p36.13, 11p15.5 OMIM: 163200 765. #612313 - GLASS SYNDROME; GLASS Cytogenetic locations: 2q33.1 OMIM: 612313 766. #241080 - WOODHOUSE-SAKATI SYNDROME Cytogenetic locations: 2q31.1 OMIM: 241080 767. #204100 - LEBER CONGENITAL AMAUROSIS 2; LCA2 Cytogenetic locations: 1p31.3-p31.2 OMIM: 204100 768. #309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL Cytogenetic locations: Xq25-q26 OMIM: 309000 769. #268400 - ROTHMUND-THOMSON SYNDROME; RTS Cytogenetic locations: 8q24.3 OMIM: 268400 770. #124000 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 Cytogenetic locations: 2q35 OMIM: 124000 771. #242860 - IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1 Cytogenetic locations: 20q11.21 OMIM: 242860 772. #304800 - DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED Cytogenetic locations: Xq28 OMIM: 304800 773. #274700 - THYROID DYSHORMONOGENESIS 3; TDH3 Cytogenetic locations: 8q24.22 OMIM: 274700 774. #252930 - MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Cytogenetic locations: 8p11.21 OMIM: 252930 775. #614527 - CHROMOSOME 17q12 DELETION SYNDROME Cytogenetic locations: 17q12 OMIM: 614527 776. #213700 - CEREBROTENDINOUS XANTHOMATOSIS; CTX Cytogenetic locations: 2q35 OMIM: 213700 777. #150230 - TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Cytogenetic locations: 8q24.11-q24.13 OMIM: 150230 778. #270550 - SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS Cytogenetic locations: 13q12.12 OMIM: 270550 779. #101600 - PFEIFFER SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDEDCytogenetic locations: 1pter-p36.13, 8p11.23-p11.22 OMIM: 101600 780. #252900 - MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Cytogenetic locations: 17q25.3 OMIM: 252900 781. #300166 - MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 Cytogenetic locations: Xp11.4 OMIM: 300166 782. #107480 - TOWNES-BROCKS SYNDROME; TBS TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDEDCytogenetic locations: 16q12.1 OMIM: 107480 783. #261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDEDCytogenetic locations: 11q23.1 OMIM: 261640 784. #113620 - BRANCHIOOCULOFACIAL SYNDROME; BOFS Cytogenetic locations: 6p24.3 OMIM: 113620 785. #612716 - DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Cytogenetic locations: 2p13.2 OMIM: 612716 786. #300623 - FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS Cytogenetic locations: Xq27.3 OMIM: 300623 787. #224690 - MEIER-GORLIN SYNDROME 1; MGORS1 Cytogenetic locations: 1p32.3 OMIM: 224690 788. #248800 - MARINESCO-SJOGREN SYNDROME; MSS Cytogenetic locations: 5q31.2 OMIM: 248800 789. #300067 - LISSENCEPHALY, X-LINKED, 1; LISX1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDEDCytogenetic locations: Xq23 OMIM: 300067 790. #610954 - PITT-HOPKINS SYNDROME; PTHS Cytogenetic locations: 18q21.2 OMIM: 610954 791. #602481 - MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 MIGRAINE, FAMILIAL BASILAR, INCLUDEDCytogenetic locations: 1q23.2 OMIM: 602481 792. #135900 - COFFIN-SIRIS SYNDROME; CSS Cytogenetic locations: 7q32-q34 OMIM: 135900 793. #252600 - MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDEDCytogenetic locations: 12q23.2 OMIM: 252600 794. #308350 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 Cytogenetic locations: Xp21.3 OMIM: 308350 795. #230000 - FUCOSIDOSIS Cytogenetic locations: 1p36.11 OMIM: 230000 796. #304120 - OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 Cytogenetic locations: Xq28 OMIM: 304120 797. #246560 - SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 Cytogenetic locations: 10q24 OMIM: 246560 798. #300337 - HYPOMELANOSIS OF ITO; HMI OMIM: 300337 799. #601675 - TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Cytogenetic locations: 2q14.3, 1pter-p36.13, 19q13.32 OMIM: 601675 800. #164280 - FEINGOLD SYNDROME 1; FGLDS1 Cytogenetic locations: 2p24.3 OMIM: 164280 801. #219200 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Cytogenetic locations: 12q24.31 OMIM: 219200 802. #139210 - MYHRE SYNDROME; MYHRS Cytogenetic locations: 18q21.2 OMIM: 139210 803. #213300 - JOUBERT SYNDROME 1; JBTS1 Cytogenetic locations: 9q34.3 OMIM: 213300 804. #210710 - MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 Cytogenetic locations: 2q14.2 OMIM: 210710 805. #601808 - CHROMOSOME 18q DELETION SYNDROME Cytogenetic locations: 18q OMIM: 601808 806. #101400 - SAETHRE-CHOTZEN SYNDROME; SCS SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDEDCytogenetic locations: 1pter-p36.13, 7p21.1 OMIM: 101400 807. #115470 - CAT EYE SYNDROME; CES Cytogenetic locations: 22q11 OMIM: 115470 808. #300523 - ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Cytogenetic locations: Xq13.2 OMIM: 300523 809. #266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C Cytogenetic locations: 11p11.2 OMIM: 266265 810. #164200 - OCULODENTODIGITAL DYSPLASIA; ODDD Cytogenetic locations: 6q22.31 OMIM: 164200 811. #310600 - NORRIE DISEASE; ND Cytogenetic locations: Xp11.3 OMIM: 310600 812. #300672 - EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 Cytogenetic locations: Xp22.13 OMIM: 300672 813. #256540 - GALACTOSIALIDOSIS; GSL Cytogenetic locations: 20q13.12 OMIM: 256540 814. #607426 - COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Cytogenetic locations: 4q21.23 OMIM: 607426 815. #215100 - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Cytogenetic locations: 6q23.3 OMIM: 215100 816. #187600 - THANATOPHORIC DYSPLASIA, TYPE I; TD1 Cytogenetic locations: 4p16.3 OMIM: 187600 817. #608363 - CHROMOSOME 22q11.2 DUPLICATION SYNDROME Cytogenetic locations: 22q11.2 OMIM: 608363 818. #225500 - ELLIS-VAN CREVELD SYNDROME; EVC Cytogenetic locations: 1pter-p36.13, 4p16.2 OMIM: 225500 819. #613038 - PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Cytogenetic locations: 3p11.2 OMIM: 613038 820. #219000 - FRASER SYNDROME CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDEDCytogenetic locations: 12q14.3, 1pter-p36.13, 4q21.21 OMIM: 219000 821. #300049 - HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDEDCytogenetic locations: Xq28 OMIM: 300049 822. #274000 - THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Cytogenetic locations: 1q21.1 OMIM: 274000 823. #308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME Cytogenetic locations: Xp22.12-p22.11 OMIM: 308205 824. #300322 - LESCH-NYHAN SYNDROME; LNS HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDEDCytogenetic locations: Xq26.2-q26.3 OMIM: 300322 825. #604360 - SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 Cytogenetic locations: 15q21.1 OMIM: 604360 826. #311200 - OROFACIODIGITAL SYNDROME I; OFD1 Cytogenetic locations: Xp22.2 OMIM: 311200 827. #605899 - GLYCINE ENCEPHALOPATHY; GCE HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDEDCytogenetic locations: 3p21.31, 1pter-p36.13, 16q23.2 OMIM: 605899 828. #309801 - LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 Cytogenetic locations: Xp22.2 OMIM: 309801 829. #175700 - GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Cytogenetic locations: 7p14.1 OMIM: 175700 830. #204000 - LEBER CONGENITAL AMAUROSIS 1; LCA1 Cytogenetic locations: 17p13.1 OMIM: 204000 831. #601186 - MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED; MCOPCB8, INCLUDEDCytogenetic locations: 15q24.1 OMIM: 601186 832. #302960 - CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 Cytogenetic locations: Xp11.23 OMIM: 302960 833. #608636 - CHROMOSOME 15q11-q13 DUPLICATION SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED; AUTS4, INCLUDEDCytogenetic locations: 15q11 OMIM: 608636 834. #216400 - COCKAYNE SYNDROME A; CSA Cytogenetic locations: 5q12.1 OMIM: 216400 835. #305600 - FOCAL DERMAL HYPOPLASIA; FDH Cytogenetic locations: Xp11.23 OMIM: 305600 836. #252650 - MUCOLIPIDOSIS IV; ML4 Cytogenetic locations: 19p13.2 OMIM: 252650 837. #251260 - NIJMEGEN BREAKAGE SYNDROME BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDEDCytogenetic locations: 8q21.3 OMIM: 251260 838. #268300 - ROBERTS SYNDROME; RBS Cytogenetic locations: 8p21.1 OMIM: 268300 839. #245570 - EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD LANDAU-KLEFFNER SYNDROME, INCLUDED; LKS, INCLUDEDCytogenetic locations: 16p13.2 OMIM: 245570 840. #147791 - JACOBSEN SYNDROME; JBS Cytogenetic locations: 11q23 OMIM: 147791 841. #176920 - PROTEUS SYNDROME ELATTOPROTEUS SYNDROME, INCLUDEDCytogenetic locations: 14q32.33 OMIM: 176920 842. #204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Cytogenetic locations: 16p11.2 OMIM: 204200 843. #230400 - GALACTOSEMIA GALACTOSEMIA, DUARTE VARIANTCytogenetic locations: 9p13.3 OMIM: 230400 844. #256550 - NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE I, INCLUDEDCytogenetic locations: 6p21.33 OMIM: 256550 845. #120330 - PAPILLORENAL SYNDROME; PAPRS Cytogenetic locations: 10q24.31 OMIM: 120330 846. #153480 - BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Cytogenetic locations: 10q23.31 OMIM: 153480 847. #607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDEDCytogenetic locations: 6q22.33 OMIM: 607855 848. #251450 - DESBUQUOIS DYSPLASIA 1; DBQD1 DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDEDCytogenetic locations: 17q25.3 OMIM: 251450 849. #602668 - MYOTONIC DYSTROPHY 2; DM2 Cytogenetic locations: 3q21.3 OMIM: 602668 850. #235730 - MOWAT-WILSON SYNDROME; MOWS Cytogenetic locations: 2q22.3 OMIM: 235730 851. #248500 - MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Cytogenetic locations: 19p13.2 OMIM: 248500 852. #272430 - COLD-INDUCED SWEATING SYNDROME 1; CISS1 Cytogenetic locations: 19p13.11 OMIM: 272430 853. #300373 - OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Cytogenetic locations: Xq11.2 OMIM: 300373 854. #613675 - CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB NF1 MICRODUPLICATION SYNDROME, INCLUDEDCytogenetic locations: 17q11.2 OMIM: 613675 855. #101200 - APERT SYNDROME APERT-CROUZON DISEASE, INCLUDEDCytogenetic locations: 10q26.13 OMIM: 101200 856. #182601 - SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 Cytogenetic locations: 2p22.3 OMIM: 182601 857. #308300 - INCONTINENTIA PIGMENTI; IP Cytogenetic locations: Xq28 OMIM: 308300 858. #248600 - MAPLE SYRUP URINE DISEASE; MSUD MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDEDCytogenetic locations: 6q14.1, 1pter-p36.13, 19q13.2 OMIM: 248600 859. #115150 - CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 Cytogenetic locations: 7q34 OMIM: 115150 860. #613254 - TUBEROUS SCLEROSIS 2; TSC2 TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDEDCytogenetic locations: 1pter-p36.13, 16p13.3 OMIM: 613254 861. #105650 - DIAMOND-BLACKFAN ANEMIA 1; DBA1 Cytogenetic locations: 19q13.2 OMIM: 105650 862. #182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Cytogenetic locations: 14q22.1 OMIM: 182600 863. #222300 - WOLFRAM SYNDROME 1; WFS1 Cytogenetic locations: 4p16.1 OMIM: 222300 864. #312170 - PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDEDCytogenetic locations: Xp22.12 OMIM: 312170 865. #135100 - FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP Cytogenetic locations: 2q24.1 OMIM: 135100 866. #214100 - PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDEDCytogenetic locations: 7q21.2 OMIM: 214100 867. #216550 - COHEN SYNDROME; COH1 Cytogenetic locations: 8q22.2 OMIM: 216550 868. #247200 - MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDEDCytogenetic locations: 17p13.3 OMIM: 247200 869. #308100 - ICHTHYOSIS, X-LINKED; XLI ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDEDCytogenetic locations: Xp22.31 OMIM: 308100 870. #109400 - BASAL CELL NEVUS SYNDROME; BCNS Cytogenetic locations: 9q22.32 OMIM: 109400 871. #182290 - SMITH-MAGENIS SYNDROME; SMS SMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDEDCytogenetic locations: 17p11.2 OMIM: 182290 872. #305000 - DYSKERATOSIS CONGENITA, X-LINKED; DKCX HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDEDCytogenetic locations: Xq28 OMIM: 305000 873. #118450 - ALAGILLE SYNDROME 1; ALGS1 Cytogenetic locations: 20p12.2 OMIM: 118450 874. #194190 - WOLF-HIRSCHHORN SYNDROME; WHS Cytogenetic locations: 4p16.3 OMIM: 194190 875. #180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Cytogenetic locations: 16p13.3 OMIM: 180849 876. #253800 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Cytogenetic locations: 9q31.2 OMIM: 253800 877. #103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Cytogenetic locations: 20q13.32 OMIM: 103580 878. #214800 - CHARGE SYNDROME Cytogenetic locations: 1pter-p36.13, 7q21.11 OMIM: 214800 879. #309400 - MENKES DISEASE Cytogenetic locations: Xq21.1 OMIM: 309400 880. #210900 - BLOOM SYNDROME; BLM Cytogenetic locations: 15q26.1 OMIM: 210900 881. #158350 - COWDEN SYNDROME 1; CWS1 DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDEDCytogenetic locations: 10q23.31 OMIM: 158350 882. #256450 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Cytogenetic locations: 11p15.1 OMIM: 256450 883. #300624 - FRAGILE X MENTAL RETARDATION SYNDROME PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED, INCLUDEDCytogenetic locations: Xq27.3 OMIM: 300624 884. #256000 - LEIGH SYNDROME; LS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDEDCytogenetic locations: 1pter-p36.13, 5q31.3, 1pter-p36.13, 5q12.1, 1pter-p36.13, 5q11.2, 1pter-p36.13, 5p15.33, 1pter-p36.13, 2q37.3, 1pter-p36.13, 2q35, 1pter-p36.13, 19p13.3, 1pter-p36.13, 17p12 OMIM: 256000 885. #122470 - CORNELIA DE LANGE SYNDROME 1; CDLS1 Cytogenetic locations: 5p13.2 OMIM: 122470 886. #309900 - MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Cytogenetic locations: Xq28 OMIM: 309900 887. #227650 - FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDEDCytogenetic locations: 16q24.3 OMIM: 227650 888. #191100 - TUBEROUS SCLEROSIS 1; TSC1 Cytogenetic locations: 9q34.13 OMIM: 191100 889. #310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Cytogenetic locations: Xp21.2-p21.1 OMIM: 310200 890. #236200 - HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDEDCytogenetic locations: 21q22.3 OMIM: 236200 891. #270400 - SMITH-LEMLI-OPITZ SYNDROME; SLOS Cytogenetic locations: 11q13.4 OMIM: 270400 892. #218040 - COSTELLO SYNDROME; CSTLO MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDEDCytogenetic locations: 11p15.5 OMIM: 218040 893. #190685 - DOWN SYNDROME TRISOMY 21, INCLUDEDCytogenetic locations: 1pter-p36.13, 21q22.3 OMIM: 190685 894. #192430 - VELOCARDIOFACIAL SYNDROME Cytogenetic locations: 22q11.21 OMIM: 192430 895. #158900 - FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDEDCytogenetic locations: 4q35 OMIM: 158900 896. #312750 - RETT SYNDROME; RTT RETT SYNDROME, ZAPPELLA VARIANT, INCLUDEDCytogenetic locations: Xq28 OMIM: 312750 897. #261600 - PHENYLKETONURIA; PKU HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDEDCytogenetic locations: 12q23.2 OMIM: 261600 898. #194050 - WILLIAMS-BEUREN SYNDROME; WBS Cytogenetic locations: 7q11.23 OMIM: 194050 899. #162200 - NEUROFIBROMATOSIS, TYPE I; NF1 Cytogenetic locations: 17q11.2 OMIM: 162200 900. #160900 - MYOTONIC DYSTROPHY 1; DM1 Cytogenetic locations: 19q13.32 OMIM: 160900