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GENATLAS PHENOTYPE

last update : 27-10-2011

Symbol	MDDGB3
Location	1p34.1
Name	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Other name(s)	muscular dystrophy with mental retardation and mild brain abnormalities mental retardation, myopia, optic atrophy, and increased serum creatine kinase; brain MRI showed ventricular dilatation, diffuse white matter changes, cerebellar cysts, and pontine hypoplasia
Corresponding gene	POMGNT1
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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