Phenotype Library | Search Phenotypes

East Syndrome (MONDO:0013005)

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

Overview

Category

urinary system disorder

nervous system disorder

Ontology ID

MONDO:0013005

Internal:14044

Synonyms

EAST syndrome

seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance

seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome

sesame syndrome

SESAMES

epilepsy, ataxia, sensorineural deafness, and tubulopathy

seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance

seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance

seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance

Mapped terms

DOID:0060484

GARD:0010514

MEDGEN:411243

MESH:C557674

OMIM:612780

Orphanet:199343

SCTID:721207002

UMLS:C2748572

Child terms

Unknown children.

Results

Cookie consent