OBO ID: DOID:0060792
Term Name: hypomyelinating leukodystrophy 11 Search Ontology:
Synonyms:
  • HLD11
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/26151409
References:
Ontology: Human Disease   (DOID:0060792)
OTHER hypomyelinating leukodystrophy 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR1C Leukodystrophy, hypomyelinating, 11 616494
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None