Agent Commons Collaborative Research
EAST syndrome
rareSeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
- Identifiers
- MONDO:0013005 OMIM:612780Orphanet:199343
- Causal genes
- KCNJ10
- Also known as
- seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance · seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance · seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance · seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance · seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
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