pontocerebellar hypoplasia type 1
Findings
No curated finding names pontocerebellar hypoplasia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
Definition from the Mondo Disease Ontology (MONDO:0016396), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- Degeneration of anterior horn cellsHPOHP:0002398
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Muscle weakness
Show the remaining 17
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Progressive microcephalyHPOHP:0000253
- Frequent (30% to 79% of cases)
- Progressive visual lossHPOHP:0000529
- Frequent (30% to 79% of cases)
- Cerebellar cystHPOHP:0002350
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
Genes
6 genes
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.
- AGTPBP1HGNC:17258
- Supportive · Orphanet · Autosomal recessive · 2021
- EXOSC3HGNC:17944
- Supportive · Orphanet · Autosomal recessive · 2021
- EXOSC8HGNC:17035
- Supportive · Orphanet · Autosomal recessive · 2021
- EXOSC9HGNC:9137
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC25A46HGNC:25198
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: pontocerebellar hypoplasia type 1
- Also called
- MRT32Norman diseasePCH1