Kaufman oculocerebrofacial syndrome

Summary

DOID:0111456 - Kaufman oculocerebrofacial syndrome

Disease Ontology Definition:A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11.

Synonyms: blepharophimosis ptosis intellectual disability syndrome, KOS, oculocerebrofacial syndrome, Kaufman type

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

: ube3b

MIM:

MIM:244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

MIM:244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

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), syndromic intellectual disability (is_a)