Phelan-McDermid syndrome

Definition:

Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.

References:

[1]. M C Bonaglia, et al. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet. 2001 Aug;69(2):261-8. [Content Brief]

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