OBO ID: DOID:0112153
Term Name: hypomyelinating leukodystrophy 20 Search Ontology:
Synonyms:
  • HLD20
Definition: A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. https://pubmed.ncbi.nlm.nih.gov/32128616/
References:
Ontology: Human Disease   (DOID:0112153)
OTHER hypomyelinating leukodystrophy 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNP ?Leukodystrophy, hypomyelinating, 20 619071
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None