pontocerebellar hypoplasia type 1A
Findings
No curated finding names pontocerebellar hypoplasia type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011866), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Progressive · Fetal onset
HPO, annotations 2026-09-02
Features
23 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 2 reported patients
- DysphagiaHPOHP:0002015
- 2 of 2 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 2 of 2 reported patients
- FasciculationsHPOHP:0002380
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
Show the remaining 11
- Hand tremorHPOHP:0002378
- 1 of 2 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Intercostal muscle weaknessHPOHP:0004878
- 1 of 2 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 2 reported patients
- Limb ataxiaHPOHP:0002070
- 1 of 2 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.
- VRK1HGNC:12718
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 1A
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1VRK1 non-syndromic pontocerebellar hypoplasia