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.
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PMM2-congenital disorder of glycosylation
MONDO:0008907
developmental and epileptic encephalopathy, 36
MONDO:0010472
SSR4-congenital disorder of glycosylation
MONDO:0010490
ALG3-congenital disorder of glycosylation
MONDO:0010998
MPI-congenital disorder of glycosylation
MONDO:0011257
ALG6-congenital disorder of glycosylation 1C
MONDO:0011291