salt and pepper syndrome

A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome

A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Global brain atrophy
• Hypotonia
• Multifocal epileptiform discharges
• Failure to thrive
• Irritability
• Hyporeflexia of upper limbs
• Developmental stagnation at onset of seizures
• Developmental regression
• Vomiting

Also known as: salt & pepper syndrome; salt-and-pepper syndrome