neurodevelopmental disorder with speech delay, movement abnormalities, and seizures

An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalitie

An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Action tremor
• Moderate intellectual disability
• Mild intellectual disability
• Focal impaired awareness seizure
• Gait ataxia
• Gastroesophageal reflux
• Ataxia
• Nystagmus
• Aggressive behavior