OBO ID: DOID:0060795
Term Name: hypomyelinating leukodystrophy 13 Search Ontology:
Synonyms:
  • HLD13
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. https://www.ncbi.nlm.nih.gov/pubmed/26545878
References:
Ontology: Human Disease   (DOID:0060795)
OTHER hypomyelinating leukodystrophy 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HIKESHI Leukodystrophy, hypomyelinating, 13 616881
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None