alpha thalassemia-X-linked intellectual disability syndrome
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
MONDO:0016980
ATR-X-related syndrome
is_a
MONDO:0020040
46 XY differences of sex development
is_a
ALPHA-thalassemia/intellectual disability syndrome, X-linked
related
ALPHA-thalassemia/mental retardation syndrome, X-linked
related
ATR, nondeletion type
exact
ATR-X syndrome
exact
ATRX
related
ATRX syndrome
related
Alpha Thalassemia X-linked Intellectual Disability Syndrome
exact
Alpha thalassemia X-linked intellectual disability syndrome
exact
Alpha thalassemia X-linked mental retardation syndrome
exact
Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked
related
Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked
related
Alpha thalassemia/intellectual disability syndrome X-linked
exact
Alpha thalassemia/mental retardation syndrome X-linked
exact
Alpha-thalassemia X-linked intellectual disability syndrome
related
Alpha-thalassemia/mental retardation syndrome, Nondeletion type
related
XLMR hypotonic face syndrome
related
alpha thalassemia-X-linked intellectual disability syndrome
exact
alpha-thalassemia/intellectual disability syndrome nondeletion type
exact
alpha-thalassemia/mental retardation syndrome, X-linked dominant
exact