Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities (NEDHSB)

Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities, also known as microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, is related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities is AFG2A (AFG2 AAA ATPase Homolog A). Affiliated tissues include brain and eye, and related phenotypes are eeg abnormality and global developmental delay