AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
Findings
No curated finding names AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.
Definition from the Mondo Disease Ontology (MONDO:0100551), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
- Also called
- SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss