Fig. 4: Phenotypic features of females with USP9X missense and single amino acid deletion variants.
From: Missense variant contribution to USP9X-female syndrome
a Constellation and frequency of major clinical features. b Magnetic resonance imaging (MRI) of brains of affected individuals. Note prominent extra-axial spaces in all, hypoplastic corpus callosum in Females 25 and 29, optic nerve atrophy and in Female 25, Dandy Walker malformation and Blake’s pouch cyst in Female 26, and ventriculomegaly of the 3rd and 4th ventricles in Female 29. c Images of affected females showing facial dysmorphisms, with common features including deep-set eyes, telecanthus, blepharophimosis, a broad nasal tip with wide alae and short collumnella, and low set and dysplastic ears. Written consent was obtained for the publication of photographs.
