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GENATLAS PHENOTYPE |
last update : 06-11-2017 |
Symbol | WLKWS7 |
Location | 7p21.2 |
Name | Walker-Warburg syndrome 7 |
Other name(s) | muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A7) |
Corresponding gene | ISPD |
Other symbol(s) | MDDGA7 |
Main clinical features |
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Genetic determination | autosomal recessive |
Prevalence | 9p100 of WLKWS |
Function/system disorder | eye |
neurology | |
neuromuscular | |
Type | disease |
Remark(s) | . recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation (PMID: 22522420)) |