Oculocerebrofacial syndrome, Kaufman type

Orpha code: 2707OMIM code: 244450

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2707
OMIM code
244450
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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