OBO ID: DOID:0112325
Term Name: pontocerebellar hypoplasia type 14 Search Ontology:
Synonyms:
  • PCH14
Definition: A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in PPIL1 on chromosome 6p21.2. https://pubmed.ncbi.nlm.nih.gov/33220177/
References:
Ontology: Human Disease   (DOID:0112325)
OTHER pontocerebellar hypoplasia type 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PPIL1 Pontocerebellar hypoplasia, type 14 619301
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None