pontocerebellar hypoplasia type 9
Findings
No curated finding names pontocerebellar hypoplasia type 9 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 AMPD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014351), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 8 of 8 reported patients
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- HyperreflexiaHPOHP:0001347
- 8 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 8 of 8 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 8 of 8 reported patients
- Intellectual disabilityHPO
Show the remaining 12
- Visual fixation instabilityHPOHP:0025405
- 7 of 8 reported patients
- Absent speechHPOHP:0001344
- 6 of 8 reported patients
- ClonusHPOHP:0002169
- 6 of 8 reported patients
- SeizureHPOHP:0001250
- 6 of 8 reported patients
- VentriculomegalyHPOHP:0002119
- 6 of 8 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 5 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.
- AMPD2HGNC:469
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: pontocerebellar hypoplasia type 9
- Also called
- AMPD2 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2PCH9