pontocerebellar hypoplasia, type 1C
Findings
No curated finding names pontocerebellar hypoplasia, type 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014485), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
19 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.
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Respiratory failureHPOHP:0002878
- 11 of 11 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 11 of 11 reported patients
- Hearing impairmentHPOHP:0000365
- 9 of 11 reported patients
- Visual impairmentHPOHP:0000505
- 9 of 11 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 8 of 11 reported patients
- Spastic tetraparesisHPO
Show the remaining 7
- IrritabilityHPOHP:0000737
- 4 of 11 reported patients
- Joint contractureHPOHP:0034392
- 3 of 11 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 2 of 8 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 11 reported patients
- Tongue fasciculationsHPOHP:0001308
- 1 of 11 reported patients
- Failure to thriveHPOHP:0001508
- Spinal muscular atrophyHPO
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.
- EXOSC8HGNC:17035
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia, type 1C
- Also called
- EXOSC8 pontocerebellar hypoplasia type 1pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8