Figure 1. . Consistent facial features of individuals with KMT2E-related neurodevelopmental disorder include dolichocephaly, tall forehead, and deep-set eyes, often with downslanting palpebral fissures, periorbital fullness, prominent cheeks, and prominent nasolabial folds.

Figure 1.

Consistent facial features of individuals with KMT2E-related neurodevelopmental disorder include dolichocephaly, tall forehead, and deep-set eyes, often with downslanting palpebral fissures, periorbital fullness, prominent cheeks, and prominent nasolabial folds.

(A) Individual 9 – age 11 years; (B) Individual 11 – age 1 year, 10 months; (C) Individual 12 – age 4.5 years; (D) Individual 13 – age 6 years; (E) Individual 15 – age 1 year, 7 months; (F) Individual 20 – age 6 years; (G) Individual 24 – age 5 years; (H) Individual 25 – age 12 years; (I) Individual 30 – age 18 years; (J) Individual 31 – age 22 years; (K) Individual 32 – age 7 years; (L) Individual 33 – age 16 years. Included on the bottom right of each cluster is the individual's sex.

NMD = nonsense mediated decay

Reprinted with permission from O'Donnell-Luria et al [2019]

From: KMT2E-Related Neurodevelopmental Disorder

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