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mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others.
Mondo Term and Equivalent IDs
MONDO:0044714:  mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Orphanet:502423: 
UMLS:CN484737: