OBO ID: DOID:0050559
Term Name: Fukuyama congenital muscular dystrophy Search Ontology:
Synonyms:
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy
References:
Ontology: Human Disease   ( DOID:0050559 )
OTHER Fukuyama congenital muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKTN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None