EAST syndrome
SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)
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EAST syndrome
Summary
EAST syndrome is a developmental defect during embryogenesis[1].
Key Facts
- EAST syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- EAST syndrome's instance of is recorded as head and neck disease[3].
- EAST syndrome's instance of is recorded as rare disease[4].
- EAST syndrome's instance of is recorded as class of disease[5].
- EAST syndrome is a type of syndrome[6].
- EAST syndrome is a type of cerebral degeneration[7].
- EAST syndrome is a type of nervous system heredodegenerative disease[8].
- EAST syndrome is a type of channelopathy with epilepsy[9].
- EAST syndrome is a type of inherited renal tubular disease[10].
- EAST syndrome is a type of genetic syndromic intellectual disability[11].
- EAST syndrome is a type of syndromic genetic deafness[12].
- EAST syndrome is a type of tubulopathy[13].
- EAST syndrome is a type of genetic disease[14].
- EAST syndrome's genetic association is recorded as KCNJ10[15].
- EAST syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060484[16].
- EAST syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060484[17].
- EAST syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_199343[18].
- EAST syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].