salt and pepper syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: st3gal5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018275 - obsolete salt and pepper syndrome

MONDO:0018275 - obsolete salt and pepper syndrome

MIM:

MIM:609056 - SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

MIM:609056 - SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

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

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

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)