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Disease Ontology Browser
Kaufman oculocerebrofacial syndrome (DOID:0111456)
Alliance: disease page
Synonyms: blepharophimosis ptosis intellectual disability syndrome; KOS; oculocerebrofacial syndrome, Kaufman type
Alt IDs: OMIM:244450, MESH:C537013, ORDO:2707, UMLS_CUI:C1855663
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 compund heterozygous mutation in UBE3B on chromosome 12q24.11.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory