Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
X-linked alpha thalassemia mental retardation syndrome (ATR-X)
Introduction
Overview
Overview
Caused by mutations in the ATR X gene. ATR X syndrome is characterised by severe learning difficulties, a characteristic facial appearance, abnormal genitalia and alpha thalassemia. The ATR protein affects the 3D structure of chromatin in the cell nucleus.