Conditions / Nervous system
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
info · Nervous system
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 heterozyg
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.
Signs and symptoms
- Seizure
- Intellectual disability
- Absent speech
- Loss of ambulation
- Developmental regression
- Dystonia
- Dysmetria
- Hypotonia
- Weakness of facial musculature
- Dysarthria
Also known as: NEDAMSS