SSR4-congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG Iy
related
CDG syndrome type Iy
exact
CDG-Iy
exact
CDG1Y
exact
CDGIy
related
SSR4-CDG
exact
SSR4-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type Iy
exact
congenital disorder of glycosylation type 1y
exact
congenital disorder of glycosylation type Iy
exact
congenital disorder of glycosylation, type Iy
related
congenital disorder of glycosylation, type Iy, X-linked recessive
exact