pontocerebellar hypoplasia type 3
Findings
No curated finding names pontocerebellar hypoplasia type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
Definition from the Mondo Disease Ontology (MONDO:0011948), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
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.
- PCLOHGNC:13406
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: pontocerebellar hypoplasia type 3
- Also called
- cerebellar atrophy with progressive microcephalyclamnon-syndromic pontocerebellar hypoplasia caused by mutation in PCLOPCH with optic atrophyPCH without dyskinesiaPCH3PCLO non-syndromic pontocerebellar hypoplasia