pontocerebellar hypoplasia, type 16
MONDO:0030438Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 16 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
- Neonatal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
24 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.
- Absent speechHPOHP:0001344
- 8 of 8 reported patients
- Axial hypotoniaHPOHP:0008936
- 8 of 8 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 8 of 8 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 8 of 8 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 8 of 8 reported patients
- DysphagiaHPOHP:0002015
- 8 of 8 reported patients
- Limb hypertoniaHPOHP:0002509
- 8 of 8 reported patients
- NystagmusHPOHP:0000639
- 8 of 8 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 8 of 8 reported patients
- VentriculomegalyHPOHP:0002119
- 8 of 8 reported patients
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 7 of 8 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 7 of 8 reported patients
Show the remaining 12
- ScoliosisHPOHP:0002650
- 7 of 8 reported patients
- SeizureHPOHP:0001250
- 7 of 8 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 7 of 8 reported patients
- Thin corpus callosumHPOHP:0033725
- 8 of 14 reported patients
- CataractHPOHP:0000518
- 4 of 8 reported patients
- Optic atrophyHPOHP:0000648
- 4 of 8 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.
- MINPP1HGNC:7102
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: pontocerebellar hypoplasia, type 16
- Also called
- PCH16