pontocerebellar hypoplasia, IIA 17
MONDO:0030890Mondo
Findings
No curated finding names pontocerebellar hypoplasia, IIA 17 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
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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
- 6 of 6 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Limb hypertoniaHPOHP:0002509
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 6 of 6 reported patients
- Cerebellar hemisphere hypoplasiaHPOHP:0100307
- 6 of 8 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 6 of 8 reported patients
- DysphagiaHPOHP:0002015
- 4 of 6 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 5 of 8 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 3 of 6 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 4 reported patients
Show the remaining 14
- EpicanthusHPOHP:0000286
- 2 of 8 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 8 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 8 reported patients
- KyphosisHPOHP:0002808
- 1 of 5 reported patients
- Paroxysmal dystoniaHPOHP:0002268
- 1 of 5 reported patients
- NystagmusHPOHP:0000639
- 1 of 6 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.
- PRDM13HGNC:13998
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: pontocerebellar hypoplasia, IIA 17
- Also called
- PCH17