Condition: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
rs1263369560
in
SPATA5
gene and
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
PMID 26299366
2015 Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
PMID 28293831
2017 Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
PMID 28513609
2017 Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
PMID 27683084
2016 SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
PMID 27246907
2016 Characterization of SPATA5-related encephalopathy in early childhood.