neurodevelopmental disorder with hypotonia, epilepsy, and absent speech

An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutatio

An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.

Signs and symptoms

• Type 2 muscle fiber atrophy
• Strabismus
• Hearing abnormality
• Seizure
• Atrophy of the spinal cord
• Gastroesophageal reflux
• Multifocal epileptiform discharges
• Short palpebral fissure
• Axonal spheroids
• Hypertrichosis