Valence-Farazi cerebellar ataxia syndrome
MONDO:0980707Mondo
Findings
No curated finding names Valence-Farazi cerebellar ataxia syndrome 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
22 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 dysplasiaHPOHP:0007033
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 9 of 9 reported patients
- Congenital hip dislocationHPOHP:0001374
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- OsteomalaciaHPOHP:0002749
- 1 of 1 reported patient
- Retrograde ejaculationHPOHP:0012877
- 2 of 2 reported patients
- Severe periodontitisHPOHP:0000166
- 2 of 2 reported patients
Show the remaining 10
- Small posterior fossaHPOHP:0040010
- 1 of 1 reported patient
- Specific learning disabilityHPOHP:0001328
- 1 of 1 reported patient
- Thick corpus callosumHPOHP:0007074
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 6 of 7 reported patients
- ClumsinessHPOHP:0002312
- 7 of 9 reported patients
- Head titubationHPOHP:0002599
- 6 of 9 reported patients