The phenotypes resulting from ATR-X are due to skewed x-inactivation . Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips. Cardiac examination was normal. Brain MRI showed thick and short corpus callosum.
Alpha-thalassemia mental retardation syndrome
Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. X-linked disorders. Hennekam
In a girl with a clinically insignificant perimembranous ventricular septal defect, mild hypotonia, and mild developmental delay, Asadollahi et al. Poyhonen, M. Haemophilia A Haemophilia B X-linked sideroblastic anemia. Hidden categories: