Goldberg-Shprintzen syndrome
A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0021189
intestinal motility disease
is_a
GOSHS
exact
Goldberg-Shprintzen megacolon syndrome
exact
Goldberg-Shprintzen syndrome
exact
megacolon-microcephaly syndrome
exact