Fig. 2: Facial phenotypes of patients with KDM6A variants are highly variable. | Genetics in Medicine

Fig. 2: Facial phenotypes of patients with KDM6A variants are highly variable.

From: Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Fig. 2: Facial phenotypes of patients with KDM6A variants are highly variable.

Patients are grouped according to sex and type of variant. Most patients have arched eyebrows, long palpebral fissures, some eversion of the lateral part of the lower eyelids, and bulbous or rounded nasal tip. Unlike the classical gestalt of Kabuki syndrome, the eyebrows are interrupted in only some patients, and are thick in many (P4, 11, 60, 66, and 67) or thin and penciled occasionally (P1, 72). Lateral flaring of eyebrows is observed in some patients (P11, 67, 69, and 74). Ears are not simple or as prominent as usually seen in patients with classic Kabuki syndrome. In several patients they appear relatively large and rather fleshy. Prominent lower lips or pillowing of the lower lips was observed in some patients (P11, 21, 42, 44, 60, 67, and 74). Prominent forehead was observed frequently. Patient 20 inherited the p.Ala149Thr variant form her father, who is similarly affected. PAV  protein-altering variants, PTV protein-truncating variants.

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