Goldberg-Shprintzen syndrome
MONDO:0012280A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Also known as: GOSHS, Goldberg-Shprintzen megacolon syndrome, Goldberg-Shprintzen syndrome, megacolon-microcephaly syndrome
3 clinical trials for this condition and its sub-types.
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Disease
(680)
Hereditary disease
(176)
Digestive system disorder
(160)
Intestinal disorder
(66)
Syndromic disease
(25)
Human disease
(14)
Intestinal motility disease
(9)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)