Search Ontology:
Human Disease
congenital muscular dystrophy with rapid progression
- Term ID
- DOID:0061202
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061202 )
Other Pages
Genes Involved
Zebrafish Models