oculocerebrofaciaal syndroom Kaufman type (aandoening)
oculocerebrofaciaal syndroom Kaufman type
Oculocerebrofacial syndrome Kaufman type
Kaufman oculocerebrofacial syndrome
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.
