Human genes for Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome [DOID:0111456]
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.
Synonyms: Kaufman oculocerebrofacial syndrome, DOID:0111456, Kaufman oculocerebrofacial disease, Kaufman oculocerebrofacial disorder, Kaufman oculocerebrofacial syndromes ...