pontocerebellar hypoplasia type 2
Findings
No curated finding names pontocerebellar hypoplasia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
Definition from the Mondo Disease Ontology (MONDO:0016759), read 2026-09-29. CC BY 4.0.
Features
39 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
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Very frequent (80% to 99% of cases)
- ChoreoathetosisHPOHP:0001266
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ventral ponsHPOHP:0006850
- Very frequent (80% to 99% of cases)
- Impaired oropharyngeal swallow responseHPOHP:0031162
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Sleep disturbanceHPOHP:0002360
- Very frequent (80% to 99% of cases)
- ApneaHPOHP:0002104
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal facial shapeHPOHP:0001999
Show the remaining 27
- Hypoplasia of the brainstemHPOHP:0002365
- Frequent (30% to 79% of cases)
- Infantile spasmsHPOHP:0012469
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Oral-pharyngeal dysphagiaHPOHP:0200136
- Frequent (30% to 79% of cases)
- Paroxysmal dystoniaHPOHP:0002268
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
Genes
5 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.
- HGNC:30605HGNC:30605
- Supportive · Orphanet · Autosomal recessive · 2021
- TSEN15HGNC:16791
- Supportive · Orphanet · Autosomal recessive · 2021
- TSEN2HGNC:28422
- Supportive · Orphanet · Autosomal recessive · 2021
- TSEN34HGNC:15506
- Supportive · Orphanet · Autosomal recessive · 2021
- TSEN54HGNC:27561
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: pontocerebellar hypoplasia type 2
- Also called
- PCH2