pontocerebellar hypoplasia, type 12
MONDO:0032643Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
13 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 4 reported patients
- Primary microcephalyHPOHP:0011451
- 4 of 4 reported patients
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 4 reported patients
- Joint contractureHPOHP:0034392
- 1 of 4 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 4 reported patients
- Overlapping fingersHPOHP:0010557
- 1 of 4 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 4 reported patients
- Rocker bottom footHPOHP:0001838
- 1 of 4 reported patients
- Talipes equinovarusHPOHP:0001762
- 1 of 4 reported patients
Show the remaining 1
- Cerebral hypoplasiaHPOHP:0006872
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.
- COASYHGNC:29932
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia, type 12
- Also called
- COASY-related pontocerebellar hypoplasiaPCH12