OBO ID: DOID:0080296
Term Name: hypomyelinating leukodystrophy 14 Search Ontology:
Synonyms:
Definition: A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/28931644/
References:
Ontology: Human Disease   ( DOID:0080296 )
OTHER hypomyelinating leukodystrophy 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UFM1 Leukodystrophy, hypomyelinating, 14 617899
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None