pontocerebellar hypoplasia
MONDO:0020135Mondo
Findings
No curated finding names pontocerebellar hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
Definition from the Mondo Disease Ontology (MONDO:0020135), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (21)
- pontocerebellar hypoplasia type 1
- pontocerebellar hypoplasia type 10
- pontocerebellar hypoplasia type 2
- pontocerebellar hypoplasia type 2E
- pontocerebellar hypoplasia type 3
- pontocerebellar hypoplasia type 4
- pontocerebellar hypoplasia type 5
- pontocerebellar hypoplasia type 6
- pontocerebellar hypoplasia type 7
- pontocerebellar hypoplasia type 8
- pontocerebellar hypoplasia type 9
- pontocerebellar hypoplasia, IIA 17
- pontocerebellar hypoplasia, type 11
- pontocerebellar hypoplasia, type 12
- pontocerebellar hypoplasia, type 13
- pontocerebellar hypoplasia, type 14
- pontocerebellar hypoplasia, type 15
- pontocerebellar hypoplasia, type 16
- pontocerebellar hypoplasia, type 1D
Other names
3 names
Resolves to: pontocerebellar hypoplasia
- Also called
- PCHpontoneocerebellar atrophypontoneocerebllar hypoplasia