Skip to search form
Skip to main content
Semantic Scholar's Logo
You are currently offline. Some features of the site may not work correctly.
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
National Institutes of Health
Autosomal recessive inheritance
Developmental delay (disorder)
Intellectual disability, severe
Semantic Scholar uses AI to extract papers important to this topic.
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
Advances in experimental medicine and biology
Corpus ID: 7844684
Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic…
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Terms of Service
ACCEPT & CONTINUE