1. Biology Dictionary
  2. Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome

Definition:

Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function.

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