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Human Disease

pontocerebellar hypoplasia type 11

Term ID
DOID:0112324
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 the TBC1D23 gene on chromosome 3q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/28823706/
References
Ontology
Human Disease   ( DOID:0112324 )
Relationships
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Genes Involved
Zebrafish Models