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pontocerebellar hypoplasia type 13
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0112332
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UID3 | Vacuolar protein sorting-associated protein 51 homolog |
