Alpha-Thalassemia/impaired Intellectual Development Syndrome, Deletion Type (HBHR)

Alias:
Atr-16 Syndrome
Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related
Alpha-Thalassemia/mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha Thalassemia-Mental Retardation Syndrome
Hemoglobin H-Related Mental Retardation
Mental Retardation with Hemoglobin H
Chromosome 16p Deletion Syndrome
Chromosome 16p Deletion
Atr, Deletion-Type
Hbhr
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Alpha-Thalassemia/impaired Intellectual Development Syndrome, Deletion Type, also known as atr-16 syndrome, is related to alpha thalassemia-intellectual disability syndrome type 1 and syndrome with alpha-thalassemia as a major feature. An important gene associated with Alpha-Thalassemia/impaired Intellectual Development Syndrome, Deletion Type is HBHR (Alpha-Thalassemia/Mental Retardation Syndrome, Type 1). Affiliated tissues include tongue, and related phenotypes are intellectual disability and abnormal erythrocyte morphology.

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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18

Medical Symptom

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No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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No data available

References Literature

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No Data Found!
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