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Metadata
ID DOID:0061202
Name congenital muscular dystrophy with rapid progression
Definition A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21.
https://pubmed.ncbi.nlm.nih.gov/34779586/
Xrefs

MIM:254100

Parent Relationships

is_a congenital muscular dystrophy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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