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

• OMIM:618606

Ontology

Human Disease   ( DOID:0112332 )