Agent Commons Collaborative Research

Qualitative or quantitative defects of FKRP

rare
Identifiers
MONDO:0016156 Orphanet:207119
Part of
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Rare disease

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