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Fig. 2 | Genome Medicine

Fig. 2

From: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Fig. 2

Twelve individuals with TCF20-associated neurodevelopmental disorder (TAND). Facial features are variable from normal or mildly dysmorphic: subject #8 (b), subject #25 (h), subject #29 (i), and subject #31 (m) to dysmorphic: macrocephaly in subjects #11 (c) and #30 (picture taken at 22 years old) (l); brachycephaly in subject #19 (f); midface hypoplasia in subject #17 and #32 (e, n); long eyelashes, thick lips, and occipital grove in subject #32 (n); upper lip abnormality including tented or thin upper lip in subjects #1, #11, #13, and #17 (a, c, d, e); coarse facies in subjects #1 and #11 (a, c); long face, full cheeks, deep-set eyes, and prominent lower lip in subject #22 (g). Digital anomalies include contracture of the fifth finger in subject #19 (f) and slender fingers in subject #22 (g)

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