intellectual disability, X-linked, with or without seizures, ARX-related
MONDO:0010317Mondo
Findings
No curated finding names intellectual disability, X-linked, with or without seizures, ARX-related yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Dysplastic testisHPOHP:0008733
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 14 of 14 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Pes planusHPOHP:0001763
- 3 of 4 reported patients
- Urinary incontinenceHPOHP:0000020
- 2 of 4 reported patients
- Babinski signHPOHP:0003487
- 1 of 4 reported patients
- DroolingHPOHP:0002307
- 1 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 4 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.
- ARXHGNC:18060
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
Other names
2 names
Resolves to: intellectual disability, X-linked, with or without seizures, ARX-related
- Also called
- ARX-related intellectual disabilityintellectual developmental disorder, X-linked 29, X-linked recessive