Luscan-Lumish syndrome

Definition:

Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems.

References:

[1]. Armelle Luscan, et al. Mutations in SETD2 cause a novel overgrowth condition. J Med Genet. 2014 Aug;51(8):512-7. [Content Brief]

[2]. Heidi S Lumish, et al. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. J Autism Dev Disord. 2015 Nov;45(11):3764-70. [Content Brief]

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