X-linked intellectual disability-hypotonic facies syndrome

Definition:

X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial features. It has been reported that mutations in ATRX gene cause this syndrome.

References:

[1]. Fatima E Abidi, et al. Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet. 2005 Feb;13(2):176-83. [Content Brief]

[2]. Liangshan Li, et al. A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Mol Med Rep. 2020 Jan;21(1):387-392. [Content Brief]

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