Term Name: EAST syndrome
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.
Ontology: Human Disease [DOID:0060484]   ( DOID:0060484 )

Relationships
is a type of: autosomal recessive disease syndrome