Parenti-Mignot neurodevelopmental syndrome

Definition:

Parenti-Mignot neurodevelopmental syndrome (PMNDS) is a neurodevelopmental syndrome characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. It has been reported that missense and truncating variants in CHD5 cause this disease. CHD5 belongs to a highly conserved family of genes encoding ATP-dependent chromatin remodeling complex subunits.

References:

[1]. Ilaria Parenti, et al. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021 Jul;140(7):1109-1120. [Content Brief]

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