Kaufman oculocerebrofacial syndrome

Term ID

DOID:0111456

Synonyms

• blepharophimosis ptosis intellectual disability syndrome
• KOS
• oculocerebrofacial syndrome, Kaufman type

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. (2)

References

• GARD:3084
• MESH:C537013
• MIM:244450
• ORDO:2707
• SNOMEDCT_US_2023_03_01:722056009
• UMLS_CUI:C1855663

Ontology

Human Disease   ( DOID:0111456 )