Term Name:	Kaufman oculocerebrofacial syndrome
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.
Ontology:	Human Disease [DOID:0111456]   ( DOID:0111456 )