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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
  • severe muscular dystrophy with increased serum creatine kinase, bilateral microphthalmia, cataracts, and arrested retinal development, anterior chamber defects, and glaucoma, hypotonia, associated with occipital neural-tube defects, facial clefts, visceral malformations, and gonadal dysplasia
  • at brain MRI, hydrocephalus, cobblestone lissencephaly of the cerebral cortex, and severe brainstem and cerebellar hypoplasia
  • Genetic determination autosomal recessive
    Prevalence 9p100 of WLKWS
    Function/system disorder eye
    Type disease
    Remark(s) . recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation (PMID: 22522420))