qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Findings

No curated finding names qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• congenital nervous system disorder
• disorder of protein O-glycosylation
• hereditary neurological disease
• neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan

Narrower terms (9)

• limb-girdle muscular dystrophy due to POMK deficiency
• myopathy caused by variation in CRPPA
• myopathy caused by variation in FKTN
• myopathy caused by variation in GMPPB
• myopathy caused by variation in POMT1
• myopathy caused by variation in POMT2
• qualitative or quantitative defects of FKRP
• qualitative or quantitative defects of protein O-mannosyltransferase 1
• qualitative or quantitative defects of protein O-mannosyltransferase 2

Resolves to: qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Also called

secondary alpha-dystroglycanopathysecondary dystroglycanopathy