pontocerebellar hypoplasia, type 13
MONDO:0032831Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
39 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.
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- ClubbingHPOHP:0001217
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Decreased liver functionHPOHP:0001410
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- EdemaHPOHP:0000969
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
Show the remaining 27
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 11 of 11 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 3 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- Hypoplastic hippocampusHPOHP:0025517
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
1 name
Resolves to: pontocerebellar hypoplasia, type 13
- Also called
- PCH13