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limb-girdle muscular dystrophy due to POMK deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Uniprot Description An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0014489:  limb-girdle muscular dystrophy due to POMK deficiency
Orphanet:445110: 
UMLS:C4015184: