alpha thalassemia-X-linked intellectual disability syndrome
Findings
No curated finding names alpha thalassemia-X-linked intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
Definition from the Mondo Disease Ontology (MONDO:0010519), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Childhood onset
HPO, annotations 2026-09-02
Features
75 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.
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- DiastemaHPOHP:0000699
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HbH hemoglobinHPOHP:0011903
- 1 of 1 reported patient
- Hypertelorism
Show the remaining 63
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
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 · Ambry Genetics · X-linked · 2015
- Definitive · Natera · X-linked recessive · 2023
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
8 names
Resolves to: alpha thalassemia-X-linked intellectual disability syndrome
- Also called
- Alpha Thalassemia X-linked Intellectual Disability SyndromeAlpha thalassemia X-linked mental retardation syndromeAlpha thalassemia/intellectual disability syndrome X-linkedAlpha thalassemia/mental retardation syndrome X-linkedalpha-thalassemia/intellectual disability syndrome nondeletion typealpha-thalassemia/mental retardation syndrome, X-linked dominantATR-X syndromeATR, nondeletion type