Kariminejad neurodevelopmental syndrome

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on c

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25.

Signs and symptoms

• Foam cells
• Narrow palate
• Hypotonia
• Short nose
• Motor delay
• Infantile spasms
• Osteopenia
• Low hanging columella
• Muscle weakness
• Thick lower lip vermilion