salt and pepper syndrome

Term ID

DOID:0060470

Synonyms

• salt & pepper syndrome
• salt-and-pepper syndrome

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/24026681

References

• OMIM:609056
• ORDO:370938

Ontology

Human Disease   ( DOID:0060470 )