Schinzel-Giedion syndrome
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
SGS
exact
Schinzel Giedion Syndrome
exact
Schinzel Giedion midface-retraction syndrome
related
Schinzel Giedion syndrome
related
Schinzel-Giedion midface-retraction syndrome
exact
Schinzel-Giedion syndrome
exact