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EAST syndrome
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Pendred syndrome
Synonym(s):
- SeSAME syndrome
- Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
(no data available)
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
KCNJ10 P78508602208
No signs/symptoms info available.