Summary Literature (0)

DOID:0060470 - salt and pepper syndrome

Disease Ontology 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.

Synonyms: salt & pepper syndrome, salt-and-pepper syndrome,

Echinobase Genes :


OMIM:

MIM:609056 - amish infantile epilepsy syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee