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Human Disease

pontocerebellar hypoplasia type 13

Term ID
DOID:0112332
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models