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: This deletion spans the KMT2E and LHFPL3 genes. Studies link this specific size of deletion to neurodevelopmental conditions, including developmental delay, hypotonia (low muscle tone), and distinct facial features.

: Detailed medical reviews, such as those in the Journal of Molecular Syndromology , classify this specific 239-kb loss as "pathogenic" because it removes critical exons of the KMT2E gene. (239 KB)

In clinical research, a on chromosome 7 (specifically at 7q22.2q22.3) is a significant genetic variant. : This deletion spans the KMT2E and LHFPL3 genes

: While rare, the identifying review suggests these patients often require early physical therapy and neurological monitoring due to the KMT2E -related neurodevelopmental disorder. 3. Document & Policy Guidelines (239 KB PDFs) including developmental delay