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Synonyms: CDG syndrome type Iy | CDG-Iy | CDG1Y | Carbohydrate deficient glycoprotein syndrome type Iy | Congenital disorder of glycosylation type 1y | Congenital disorder of glycosylation type Iy

SSR4-CDG is 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.