Pathogenic variant causative of the reported phenotype was identified

Gene (Transcript) ǂ

Location

Variant

Zygosity

Disease (OMIM)

Inheritance

Classification

KMT2D (-) (ENST00000301067)

Exon 39

c.12137delG (p.Gly4046GlufsTer4)

Heterozygous

Kabuki syndrome-1

Autosomal dominant

Pathogenic