Gene: [09q31/HARD] hydrocephalus, agyria, and retinal dysplasia (HARD syndrome); Walker-Warburg syndrome; [WWS ]
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COM |
Toda-1995 analyzed a family in which 3 siblings were affected with either Fukuyama-type congenital muscular dystrophy (GEM:09q31/FCMD) or WWS by using polymorphic microsatellites flanking the FCMD locus on Chr 9q31. The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be "genetically" identical." |
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REF |
LOC "Toda T &: Ann Neurol, 37, N1, 99-101, 1995 |
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KEY |
myo |
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CLA |
unknown, basic |
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LOC |
09 q31 |
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MIM |
MIM: 236670 |
|
SYN |
WWS |
