Kaufman oculocerebrofacial syndrome

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 g

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.

Signs and symptoms

• Narrow mouth
• Sparse eyebrow
• Nystagmus
• Absent speech
• Thin skin
• Low-set ears
• Anteverted nares
• Blepharophimosis
• Motor delay
• Sparse hair

Also known as: blepharophimosis ptosis intellectual disability syndrome; oculocerebrofacial syndrome, Kaufman type