pontocerebellar hypoplasia type 10
Findings
No curated finding names pontocerebellar hypoplasia type 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014349), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
49 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.
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- ConstipationHPOHP:0002019
- 2 of 2 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 37
- StrabismusHPOHP:0000486
- 2 of 2 reported patients
- Very rare (1% to 4% of cases)
- Tapered fingerHPOHP:0001182
- 2 of 2 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Delayed fine motor developmentHPOHP:0010862
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.
- CLP1HGNC:16999
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: pontocerebellar hypoplasia type 10
- Also called
- CLP1 non-syndromic pontocerebellar hypoplasiaCLP1-related pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in CLP1PCH10