cognitive impairment with or without cerebellar ataxia
MONDO:0013680Mondo
Findings
No curated finding names cognitive impairment with or without cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- EsophoriaHPOHP:0025312
- 1 of 1 reported patient
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Optic nerve hypoplasiaHPOHP:0000609
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 3 reported patients
Show the remaining 7
- Delayed speech and language developmentHPOHP:0000750
- 2 of 3 reported patients
- Borderline intellectual disabilityHPOHP:0006889
- 1 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 2 reported patients
- Severe temper tantrumsHPOHP:0025162
- 1 of 2 reported patients
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.
- SCN8AHGNC:10596
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of