Metadata | |
---|---|
ID | DOID:0060484 |
Name | EAST 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. https://www.ncbi.nlm.nih.gov/pubmed/23471908, https://www.ncbi.nlm.nih.gov/pubmed/19420365, https://www.ncbi.nlm.nih.gov/pubmed/19289823 |
Xrefs |
SNOMEDCT_US_2023_03_01:721207002 |
Subsets |
DO_rare_slim |
Synonyms |
epilepsy, ataxia, sensorineural deafness and tubulopathy [EXACT] seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance [EXACT] SeSAME syndrome [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |