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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.
Features include always present findings: Upslanted palpebral fissure, Hypochromic microcytic anemia, Thin corpus callosum, and Delayed speech and language development and others; and very common findings: Intellectual disability, HbH hemoglobin, Small red blood cells (microcytic anemia), and Abnormal speech pattern and others. 59 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Seizure, Intellectual disability, Delayed speech and language development |
Blood and immune system | 3 | Hypochromic microcytic anemia, HbH hemoglobin, Small red blood cells (microcytic anemia) |
Growth and development | 2 | Short stature, Failure to thrive |
Muscles | 2 | Low muscle tone (hypotonia), Flexion contracture |
Arms and legs | 2 | Radial deviation of finger, Short toe |
Head and neck | 2 | High palate, Microcephaly |
Eyes | 1 | Ptosis |
Biomarker and diagnostic research for alpha thalassemia-intellectual disability syndrome type 1 has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 5 very common features, 22 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for alpha thalassemia-intellectual disability syndrome type 1.
7 publications have been identified in PubMed for alpha thalassemia-intellectual disability syndrome type 1. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).
Brott JT (2026). [PMID: 42048321](https://pubmed.ncbi.nlm.nih.gov/42048321/). *PLoS One*. [Basic Science / Preclinical]
Tamaru H (2025). [PMID: 41317128](https://pubmed.ncbi.nlm.nih.gov/41317128/). *Congenital anomalies*. [Case Report / Case Series]
Mizuguchi T (2025). [PMID: 39966947](https://pubmed.ncbi.nlm.nih.gov/39966947/). *Clinical epigenetics*. [Diagnostic / Biomarker]
Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Frontiers in genetics*. [Case Report / Case Series]
Jajodia E (2024). [PMID: 38990295](https://pubmed.ncbi.nlm.nih.gov/38990295/). *Annals of hematology*. [Case Report / Case Series]
Wang Y (2024). [PMID: 39363269](https://pubmed.ncbi.nlm.nih.gov/39363269/). *BMC Pediatr*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:15 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center