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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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
AD
Unknown
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18

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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