Search Ontology:
Human Disease

X-linked congenital myopathy with fiber-type disproportion

Term ID
DOID:0111226
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.