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GENATLAS PHENOTYPE

last update : 16-09-2013

Symbol	MDDGA14
Location	3p21.31
Name	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Corresponding gene	GMPPB
Main clinical features	increased muscle tone, microcephaly, cleft palate, and feeding difficulties, severe muscle weakness, delayed walking, and severe intellectual development with lack of speech sensorineural hearing loss, ataxia, and retinal dysfunction brain MRI revealed pontine and cerebellar hypoplasia
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neuromuscular
	ear
	eye
Type	disease

Remark(s)