OBO ID: DOID:0112332
Term Name: pontocerebellar hypoplasia type 13 Search Ontology:
Synonyms:
  • PCH13
Definition: A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in VPS51 on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/31207318/
References:
Ontology: Human Disease   (DOID:0112332)
OTHER pontocerebellar hypoplasia type 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS51 Pontocerebellar hypoplasia, type 13 618606
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None