OBO ID: DOID:0111226
Term Name: X-linked congenital myopathy with fiber-type disproportion Search Ontology:
Synonyms:
  • CFTDX
Definition: A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. https://www.ncbi.nlm.nih.gov/pubmed/16173074
References:
Ontology: Human Disease   ( DOID:0111226 )
Relationships
is a type of:
OTHER X-linked congenital myopathy with fiber-type disproportion PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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