Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alias:

Alpha-Thalassemia-Intellectual Disability Syndrome Linked to Chromosome 16

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Atr Syndrome Linked to Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/mental Retardation Syndrome, Type 1

Alpha Thalassemia-Retardation Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Alpha Thalassemia-Intellectual Disability Syndrome Type 1, also known as alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, is related to thalassemia and alpha-thalassemia. An important gene associated with Alpha Thalassemia-Intellectual Disability Syndrome Type 1 is HBA1 (Hemoglobin Subunit Alpha 1), and among its related pathways/superpathways are Erythrocytes take up carbon dioxide and release oxygen and Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations. Affiliated tissues include ovary, and related phenotypes are intellectual disability and fatigue

Related ID：

MALACARDS：ALP094