Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (AGFA2 gene) – formerly known as SPATA5 gene

OMIM number: 616577

Comments closing date: 31/07/2026

Neurodevelopmental Disorder with Hearing Loss, Seizures and Brain Abnormalities (NEDHSB) is a rare inherited genetic condition caused by disease-causing variants in the AFG2A gene (previously known as SPATA5). The condition primarily affects the development and function of the brain and nervous system. Affected individuals usually have developmental delay, intellectual disability, hearing loss and low muscle tone. Many also develop seizures and movement difficulties. Brain imaging may show structural or developmental abnormalities, although findings vary between individuals. Speech and language development is often significantly delayed, and some affected individuals have limited verbal communication. The condition is present from birth, with symptoms typically becoming apparent during infancy. Severity ranges from moderate to severe, but most affected individuals require ongoing medical care and developmental support. There is currently no cure, and treatment focuses on managing symptoms and maximising development, communication, mobility and quality of life

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