ATR-X-related syndrome
MONDO:0016980Mondo
Findings
No curated finding names ATR-X-related syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0016980), read 2026-09-29. CC BY 4.0.
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.
- ATRXHGNC:886
- Definitive · ClinGen · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025