Disease & disorder

STT3B-congenital disorder of glycosylation

MONDO:0014271

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

Outbreak surveillance

Global reported events

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Clinical trials0
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Drug concepts studied0
Synonyms9
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Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.