OBO ID: DOID:0112324
Term Name: pontocerebellar hypoplasia type 11 Search Ontology:
Synonyms:
  • PCH11
Definition: A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D23 on chromosome 3q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/28823706/
References:
Ontology: Human Disease   (DOID:0112324)
OTHER pontocerebellar hypoplasia type 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBC1D23 Pontocerebellar hypoplasia, type 11 617695
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None