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EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME

Known as: EHLMRS 
 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceDevelopmental delay (disorder)Intellectual disability, severeMuscle Spasticity
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic… Expand
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