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Fig. 2 | Molecular Autism

Fig. 2

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Fig. 2

Common dysmorphic features in UW-SNV patients with DYRK1A haploinsufficiency. a Facial features of eight UW-SNV patients with DYRK1A haploinsufficiency. Note common features across patients, including prominent brow with high anterior hairline, slightly upslanted palpebral fissures, retrognathic jaw, deep-set eyes with a hooded appearance, bitemporal narrowing, high nasal bridge with tubular-shaped, broad-tipped nose, and protruding ears. b Profiles of six UW-SNV patients. Note prominent brows with high anterior hairlines as well as low-set, posteriorly rotated ears in a subset of patients. c Ear abnormalities in four UW-SNV patients, including post-rotated and protruding ears with protruding thick and overfolded helices (i.e., outer fold of the ear). d Foot abnormalities in eight UW-SNV patients. Common features include proximal placement of the first toe, crooked toes, and syndactyly of the second and third toes. Frameshift, nonsense, and missense cases identified by HGVS protein notation; cases with splice site variants identified by HGVS cDNA notation

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