Intellectual developmental disorder with short stature

Definition:

Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short stature. Several underlying genetic causes of these diseases have been identified.

References:

[1]. Arjan P M de Brouwer, et al. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. [Content Brief]

[2]. Muhammad Ansar, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):907-920. [Content Brief]

[3]. Muhammad Ansar, et al. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. Hum Mol Genet. 2019 Mar 15;28(6):972-979. [Content Brief]

[4]. Musharraf Jelani, et al. A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. Brain. 2019 May 1;142(5):1242-1254. [Content Brief]

[5]. Sofia I H Godinho, et al. The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. Science. 2007 May 11;316(5826):897-900. [Content Brief]

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