DISEASES

Disease-gene associations mined from literature

Human genes for EAST syndrome

EAST syndrome [DOID:0060484]

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.

Synonyms:  EAST syndrome,  DOID:0060484,  EAST disease,  EAST disorder,  EAST syndromes ...