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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	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
	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))