pontocerebellar hypoplasia, type 14
MONDO:0030258Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 14 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
HPO, annotations 2026-09-02
Features
22 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.
- Agenesis of corpus callosumHPOHP:0001274
- 8 of 8 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 9 of 9 reported patients
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 9 of 9 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 9 of 9 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 9 of 9 reported patients
- Motor delayHPOHP:0001270
- 9 of 9 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 9 of 9 reported patients
- Absent speechHPOHP:0001344
- 8 of 9 reported patients
- Brisk reflexesHPOHP:0001348
- 8 of 9 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 8 of 9 reported patients
- HypotoniaHPOHP:0001252
- 6 of 9 reported patients
- Simplified gyral patternHPOHP:0009879
- 5 of 8 reported patients
Show the remaining 10
- HypertoniaHPOHP:0001276
- 5 of 9 reported patients
- DystoniaHPOHP:0001332
- 3 of 9 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 8 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 9 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 9 reported patients
- Infantile spasmsHPOHP:0012469
- 2 of 9 reported patients
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.
- PPIL1HGNC:9260
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · Broad Center for Mendelian Genomics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: pontocerebellar hypoplasia, type 14
- Also called
- PCH14