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10.26180/15035007.V1

ATR-X syndrome is a Disorder of Sex Development (aka ‘intersex’) that affects males and is characterized by alpha thalassemia, intellectual disability, and genital anomalies (80%) including small testes.

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10.1007/s00439-021-02361-5

ATR-X syndrome is caused by germline variants in the ATRX gene.

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Atr X Syndrome

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Oct 03, 2022

What is/are Atr X Syndrome?

Atr X Syndrome - ATR-X syndrome is a Disorder of Sex Development (aka ‘intersex’) that affects males and is characterized by alpha thalassemia, intellectual disability, and genital anomalies (80%) including small testes. ^[1] ATR-X syndrome is caused by germline variants in the ATRX gene. ^[2]