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congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Disease Summary
Associated Targets (15)
Tbio
15
Mondo Description Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
Mondo Term and Equivalent IDs
MONDO:0018132: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies