intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MONDO:0060745Mondo
Findings
No curated finding names intellectual developmental disorder with or without epilepsy or cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Delayed speech and language developmentHPOHP:0000750
- 10 of 13 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 12 reported patients · Infantile onset
- TremorHPOHP:0001337
- 8 of 13 reported patients
- SeizureHPOHP:0001250
- 9 of 16 reported patients
- Generalized hypotoniaHPOHP:0001290
- 7 of 13 reported patients
- StrabismusHPOHP:0000486
- 6 of 13 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 16 reported patients
- AtaxiaHPOHP:0001251
- 4 of 13 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 9 reported patients
- EsotropiaHPOHP:0000565
- 2 of 13 reported patients
- HypermetropiaHPOHP:0000540
- 2 of 13 reported patients
- IncoordinationHPOHP:0002311
- 2 of 13 reported patients
Show the remaining 15
- CryptorchidismHPOHP:0000028
- 1 of 8 reported patients · Male
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 9 reported patients
- Pontocerebellar atrophyHPOHP:0006879
- 1 of 9 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 13 reported patients
- NystagmusHPOHP:0000639
- 1 of 13 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 1 of 13 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.
- RORAHGNC:10258
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of