Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Alias:
Atr-X Syndrome
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type
Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
Alpha Thalassemia X-Linked Mental Retardation Syndrome
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
X-Linked Alpha-Thalassemia/mental Retardation Syndrome
Alpha Thalassemia/mental Retardation, X-Linked
Xlmr-Hypotonic Face Syndrome
Atr, Nondeletion Type
Atrx Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome, also known as atr-x syndrome, is related to autism and microcephaly, and has symptoms including constipation An important gene associated with Alpha Thalassemia-X-Linked Intellectual Disability Syndrome is ATRX (ATRX Chromatin Remodeler), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include testes and skin, and related phenotypes are intellectual disability and aphasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
--
22
227
68

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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IF
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