OBO ID: DOID:0060788
Term Name: hypomyelinating leukodystrophy 10 Search Ontology:
Synonyms:
  • HLD10
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (2)
References:
Ontology: Human Disease   (DOID:0060788)
OTHER hypomyelinating leukodystrophy 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYCR2 Leukodystrophy, hypomyelinating, 10 616420
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None