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Article

Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C.

American journal of medical genetics. Part A - 1 Oct 2021

Hatch Hayden A M, O'Neil Molly H, Marion Robert W, Secombe Julie, Shulman Lisa H

Abstract excerpt

Loss of function variants in the lysine demethylase 5C (KDM5C) gene account for approximately 0.7-2.8% of X-linked intellectual disability (ID) cases and pose significant burdens for patients and their caregivers. To date, 45 unique variants in KDM5C have been reported in individuals with ID. As a rare disorder, its etiology and natural history remain an area of active investigation, with treatment limited to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34089235
DOI: 10.1002/ajmg.a.62381
PMCID: PMC8446302

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