aprosencephaly cerebellar dysgenesis
MONDO:0011062Mondo
Findings
No curated finding names aprosencephaly cerebellar dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Absent mesencephalonHPOHP:0007265
- 2 of 2 reported patients · Antenatal onset
- AprosencephalyHPOHP:0007268
- 2 of 2 reported patients · Antenatal onset
- Cerebellar dysplasiaHPOHP:0007033
- 2 of 2 reported patients · Antenatal onset
- CraniosynostosisHPOHP:0001363
- 2 of 2 reported patients · Fetal onset
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients · Fetal onset
- Poorly formed metencephalonHPOHP:0007027
- 2 of 2 reported patients · Antenatal onset
- Retinal dysplasiaHPOHP:0007973
- 2 of 2 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 2 reported patients · Fetal onset
- Talipes equinovarusHPOHP:0001762
- 1 of 2 reported patients · Fetal onset
Where it sits
- A kind of