SSR3-CDG

MONDO:0300000

A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.

Also known as: SSR3 congenital disorder of glycosylation, SSR3 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with SSR3-CDG itself.

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Part of

↑ Congenital disorder of glycosylation type I (7)

Including sub-types (0) Tagged with SSR3-CDG (0)

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