|OBO ID: DOID:0112324|
|Term Name:||pontocerebellar hypoplasia type 11||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0112324)|
|is a type of:||
OTHER pontocerebellar hypoplasia type 11 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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