Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (NEDHND)

Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness, also known as myopathy, congenital, with neuropathy and deafness, is related to sptbn4 disorder. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness is SPTBN4 (Spectrin Beta, Non-Erythrocytic 4). The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, and related phenotypes are seizure and eeg abnormality