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SSR4-CDG
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Amyotrophic lateral sclerosis
Burkitt lymphoma
Intermittent hydrarthrosis
Precursor T-cell acute lymphoblastic leukemia
TRAPS syndrome
17q11 microdeletion syndrome
CLN3 disease
Glycogen storage disease due to liver phosphorylase kinase deficiency
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Pseudohypoaldosteronism type 2E
Young adult-onset Parkinsonism
DDOST-CDG
Familial isolated congenital asplenia
Hirschsprung disease
Translocation renal cell carcinoma
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- 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: x-linked recessive
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
SSR4 P51571300090
No signs/symptoms info available.