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GENATLAS PHENOTYPE

last update : 16-09-2013

Symbol	MDDGB14
Location	3p21.31
Name	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
Corresponding gene	GMPPB
Main clinical features	congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	mental retardation
Type	disease

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