Search Ontology:
Human Disease
pontocerebellar hypoplasia type 13
- Term ID
- DOID:0112332
- Synonyms
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- 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 the VPS51 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/31207318/
- References
- Ontology
- Human Disease ( DOID:0112332 )
- is a type of
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Genes Involved
Zebrafish Models