EAST syndrome

Term ID

DOID:0060484

Synonyms

• epilepsy, ataxia, sensorineural deafness and tubulopathy
• seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance
• SeSAME syndrome

Definition

A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (3)

References

• MESH:C557674
• OMIM:612780
• ORDO:199343
• SNOMEDCT_US_2023_03_01:721207002
• UMLS_CUI:C2748572

Ontology

Human Disease   ( DOID:0060484 )