Disease-gene associations mined from literature

Human genes for salt and pepper syndrome

Salt and pepper syndrome [DOID:0060470]

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 SIAT9 on chromosome 2p11.2.

Synonyms:  salt and pepper syndrome,  DOID:0060470,  salt and pepper disease,  salt and pepper disorder,  salt and pepper syndromes ...