Weiss-Kruszka syndrome

Definition:

Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency of ZNF462 is associated with this syndrome.

References:

[1]. Karin Weiss, et al. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 Aug;25(8):946-951. [Content Brief]

[2]. Paul Kruszka, et al. Phenotype delineation of ZNF462 related syndrome. Am J Med Genet A. 2019 Oct;179(10):2075-2082. [Content Brief]

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