OBO ID: DOID:0112324 |
Term Name: | pontocerebellar hypoplasia type 11 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112324 ) |
OTHER pontocerebellar hypoplasia type 11 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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