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neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Summary

Synonym

NEDAMSS

Definition

A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.

Super Class

neurodegenerative disease

External Links

Disease Ontology

DOID:0081327

Mondo Disease Ontology

MONDO:0060759

OMIM

618088

Related Genes

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
26145	IRF2BP1	interferon regulatory factor 2 binding protein 1	Alliance of Genome Resources
64207	IRF2BPL	interferon regulatory factor 2 binding protein like	Alliance of Genome Resources
359948	IRF2BP2	interferon regulatory factor 2 binding protein 2	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
238330	Irf2bpl	interferon regulatory factor 2 binding protein-like	Alliance of Genome Resources
270110	Irf2bp2	interferon regulatory factor 2 binding protein 2	Alliance of Genome Resources