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. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.