neurodevelopmental disorder with seizures, hypotonia, and variable spasticity

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromos

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Clonus
• Seizure
• Lower limb spasticity
• Arm dystonia
• Severe intellectual disability
• Torticollis
• Axial hypotonia
• Delayed speech and language development
• Febrile seizure (within the age range of 3 months to 6 years)

Also known as: NEDSHS