pontocerebellar hypoplasia type 1B
Findings
No curated finding names pontocerebellar hypoplasia type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene, which may include other brain anomalies (such as cerebellar atrophy or mega cisterna magna), hypotonia, ocular anomalies (including strabismus or vision loss), thrombotic microangiopathy, hypertension, proteinuria, and swollen or hyperechogenic kidneys.
Definition from the Mondo Disease Ontology (MONDO:0013853), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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 atrophyHPOHP:0001272
- Generalized hypotoniaHPOHP:0001290
- Progressive microcephalyHPOHP:0000253
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.
- EXOSC3HGNC:17944
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 1B
- Also called
- EXOSC3-related pontocerebellar hypoplasia with or without thrombotic microangiopathyPCH1B