pontocerebellar hypoplasia, type 11
MONDO:0054669Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 11 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 · Infantile onset
HPO, annotations 2026-09-02
Features
21 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
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Happy demeanorHPOHP:0040082
- 7 of 7 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 4 of 4 reported patients
- MacrotiaHPOHP:0000400
- 7 of 7 reported patients
- Motor stereotypyHPOHP:0000733
- 4 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients
- SpasticityHPOHP:0001257
- 7 of 7 reported patients
- Bulbous noseHPOHP:0000414
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 4 reported patients
- ColobomaHPOHP:0000589
- 2 of 6 reported patients
Show the remaining 9
- StrabismusHPOHP:0000486
- 2 of 6 reported patients
- Pes planusHPOHP:0001763
- 2 of 7 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Self-injurious behaviorHPOHP:0100716
- 1 of 4 reported patients
- HypermetropiaHPOHP:0000540
- 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.
- TBC1D23HGNC:25622
- Definitive · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia, type 11
- Also called
- PCH11Pontocerebellar hypoplasia due to TBC1D23