Developmental delay with variable intellectual disability and dysmorphic facies
Definition:
Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a regulator of histone methyltransferase complexes.
References:
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[1]. Eline A Verberne, et al. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome. Int J Mol Sci. 2022 Jul 20;23(14):8001. [Content Brief]
[2]. Eline A Verberne, et al. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021 Feb;23(2):374-383. [Content Brief]
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