congenital myopathy 17

Term ID

DOID:0081349

Synonyms

Definition

A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/30403323/

References

• MIM:618975

Ontology

Human Disease   ( DOID:0081349 )