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.
References:
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[1]. Elisabetta Flex, et al. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet. 2013 Aug;50(8):493-9. [Content Brief]
[2]. Lina Basel-Vanagaite, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. [Content Brief]
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