pontocerebellar hypoplasia, type 1E
MONDO:0030260Mondo
Findings
No curated finding names pontocerebellar hypoplasia, type 1E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
14 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
- 4 of 4 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 4 of 4 reported patients
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- 4 of 4 reported patients · Neonatal onset
- Severe global developmental delayHPOHP:0011344
- 4 of 4 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 4 reported patients · Fetal onset
- Cerebellar atrophyHPOHP:0001272
- 2 of 4 reported patients
- MyoclonusHPOHP:0001336
- 2 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 2 of 4 reported patients
- AreflexiaHPOHP:0001284
- 1 of 4 reported patients
- EEG with burst suppressionHPOHP:0010851
- 1 of 4 reported patients
- Elbow flexion contractureHPOHP:0002987
- 1 of 4 reported patients
Show the remaining 2
- Knee flexion contractureHPOHP:0006380
- 1 of 4 reported patients
- Neonatal hypotoniaHPOHP:0001319
- Neonatal onset
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.
- SLC25A46HGNC:25198
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: pontocerebellar hypoplasia, type 1E
- Also called
- PCH1E