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All: 347 
OMIM dbSNP: 41 
OMIM UniSTS: 116 
Items 1 - 20 of 347
 
 of 18
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1: #313200 GeneTests, Links
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
SPINAL MUSCULAR ATROPHY, BENIGN, WITH HYPERTROPHY OF CALVES, INCLUDED
Gene map locus Xq11-q12
2: #172700 Links
PICK DISEASE OF BRAIN
Gene map locus 17q21.1, 14q24.3
3: +258870 GeneTests, Links
ORNITHINE AMINOTRANSFERASE DEFICIENCY
ORNITHINE AMINOTRANSFERASE, INCLUDED; OAT, INCLUDED
Gene map locus 10q26
4: #183090 GeneTests, Links
SPINOCEREBELLAR ATAXIA 2; SCA2
Gene map locus 12q24
5: #253300 GeneTests, Links
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
Gene map locus 5q12.2-q13.3
6: #164400 GeneTests, Links
SPINOCEREBELLAR ATAXIA 1; SCA1
Gene map locus 6p23
7: #109150 GeneTests, Links
MACHADO-JOSEPH DISEASE; MJD
Gene map locus 14q24.3-q31
8: %260565 Links
PEHO SYNDROME
PEHO-LIKE SYNDROME, INCLUDED
9: %608027 Links
CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY
Gene map locus 7q11-q21
10: #222300 GeneTests, Links
WOLFRAM SYNDROME
WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, INCLUDED
Gene map locus 4p16.1
11: #253280 GeneTests, Links
MUSCLE-EYE-BRAIN DISEASE; MEB
Gene map locus 19q13.3, 1p34-p33
12: #118200 GeneTests, Links
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
Gene map locus 1q22
13: #125370 GeneTests, Links
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
Gene map locus 12p13.31
14: %141300 Links
HEMIFACIAL ATROPHY, PROGRESSIVE; HFA
15: #535000 GeneTests, Links
LEBER OPTIC ATROPHY
16: #164500 GeneTests, Links
SPINOCEREBELLAR ATAXIA 7; SCA7
Gene map locus 3p21.1-p12
17: #500001 Links
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
18: +143100 GeneTests, Links
HUNTINGTON DISEASE; HD
HUNTINGTIN, INCLUDED; HD, INCLUDED
Gene map locus 4p16.3
19: #598500 Links
WOLFRAM SYNDROME, MITOCHONDRIAL FORM
20: #221770 GeneTests, Links
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
Gene map locus 19q13.1, 6p21.2
Items 1 - 20 of 347
 
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