neurodevelopmental disorder with eye movement abnormalities and ataxia
MONDO:0859305Mondo
Findings
No curated finding names neurodevelopmental disorder with eye movement abnormalities and 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
- Infantile onset · 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.
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 8 of 8 reported patients
- AtaxiaHPOHP:0001251
- 7 of 8 reported patients
- HypotoniaHPOHP:0001252
- 5 of 7 reported patients
- SeizureHPOHP:0001250
- 5 of 8 reported patients
- SpasticityHPOHP:0001257
- 4 of 7 reported patients
- NystagmusHPOHP:0000639
- 4 of 8 reported patients
- OpsoclonusHPOHP:0010543
- 3 of 8 reported patients
- DystoniaHPOHP:0001332
- 2 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 8 reported patients
- AnxietyHPOHP:0000739
- 1 of 8 reported patients
Show the remaining 10
- Atrial septal defectHPOHP:0001631
- 1 of 8 reported patients
- ConstipationHPOHP:0002019
- 1 of 8 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 8 reported patients
- DyslexiaHPOHP:0010522
- 1 of 8 reported patients
- EsotropiaHPOHP:0000565
- 1 of 8 reported patients
- MigraineHPOHP:0002076
- 1 of 8 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.
- FRMD5HGNC:28214
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · G2P · Autosomal dominant · 2025