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STT3B-CDG
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Herpetic encephalitis
DDOST-CDG
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked non-syndromic intellectual deficit
Acute fatty liver of pregnancy
Blackfan-Diamond anemia
Familial short QT syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
STT3B Q8TCJ2608605
No signs/symptoms info available.