alpha thalassemia-intellectual disability syndrome type 1
Findings
No curated finding names alpha thalassemia-intellectual disability syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0007716), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
40 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 ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 16 of 16 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- 1 of 1 reported patient
Show the remaining 28
- CryptorchidismHPOHP:0000028
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HbH hemoglobinHPOHP:0011903
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Microcytic anemiaHPOHP:0001935
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
Where it sits
Other names
11 names
Resolves to: alpha thalassemia-intellectual disability syndrome type 1
- Also called
- Alpha thalassemia-intellectual disability syndromeAlpha thalassemia-intellectual disability syndrome, deletion typeAlpha thalassemia-mental retardation syndromealpha-thalassemia-intellectual disability syndrome linked to chromosome 16Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16alpha-thalassemia/intellectual disability syndrome, deletion-typealpha-thalassemia/intellectual disability syndrome, type 1alpha-thalassemia/mental retardation syndrome, deletion-typeATR syndrome linked to chromosome 16ATR syndrome, deletion typeATR-16 Syndrome