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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.