X-linked complex neurodevelopmental disorder
Findings
No curated finding names X-linked complex neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0100148), read 2026-09-29. CC BY 4.0.
Features
3 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, hp/releases/2026-09-01.
- Autistic behaviorMondoHP:0000729
- Intellectual disabilityMondoHP:0001249
- SeizureMondoHP:0001250
Genes
33 genes
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.
- ARHGEF9HGNC:14561
- Definitive · ClinGen · X-linked · 2024
- ARXHGNC:18060
- Definitive · ClinGen · X-linked · 2020
- Definitive · G2P · X-linked · 2025
- CLCN4HGNC:2022
- Definitive · ClinGen · X-linked · 2026
- CNKSR2HGNC:19701
- Definitive · ClinGen · X-linked · 2020
- FRMPD4HGNC:29007
- Definitive · ClinGen · X-linked · 2022