Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome(来自ICD-11)
别称:
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
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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
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MALACARDS
XL
XLD
Newborn
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22
227
68

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