cerebellar ataxia-ectodermal dysplasia syndrome
MONDO:0008934Mondo
Findings
No curated finding names cerebellar ataxia-ectodermal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Definition from the Mondo Disease Ontology (MONDO:0008934), read 2026-09-29. CC BY 4.0.
Features
12 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.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- MicrodontiaHPOHP:0000691
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
Where it sits
- A kind of