Term Name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
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.
Ontology: Human Disease [DOID:0081327]   ( DOID:0081327 )

Relationships
is a type of: neurodegenerative disease