Version: 8.0.0
Date: Tue Jan 28 2025
Ullrich congenital muscular dystrophy 1A
DOID:0060946
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ullrich congenital muscular dystrophy 1A

Definition
An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.
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None
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