pontocerebellar hypoplasia type 8
Findings
No curated finding names pontocerebellar hypoplasia type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
Definition from the Mondo Disease Ontology (MONDO:0013990), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
47 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 6 of 6 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 5 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 6 reported patients
- Reduced social responsivenessHPOHP:0012760
- 4 of 6 reported patients
- Delayed ability to walkHPO
Genes
1 gene
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.
- CHMP1AHGNC:8740
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: pontocerebellar hypoplasia type 8
- Also called
- CHMP1A non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1APCH8pontocerebellar hypoplasia due to CHMP1A mutation