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Diseases / Nervous system disorder/ Congenital nervous system disorder/ Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

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

Autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0011787
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 MONDO:0013157

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