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

Term ID

DOID:0081327

Synonyms

• 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. (5)

References

• OMIM:618088

Ontology

Human Disease   ( DOID:0081327 )