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...
Comprehensive, easy-to-understand information about this condition
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Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
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Common questions about AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.