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| Term | Ullrich congenital muscular dystrophy 1A | ID (Ontology) | DOID:0060946 (Human Disease) |
| 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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congenital muscular dystrophy__ autosomal dominant disease_____| autosomal recessive disease____| Ullrich congenital muscular dystrophy |__Ullrich congenital muscular dystrophy 1A |
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| Is a | Ullrich congenital muscular dystrophy | ||
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| MIM:254090 | |||