Fig. 2: Individuals with likely pathogenic de novo CLTC variants. | Genetics in Medicine

Fig. 2: Individuals with likely pathogenic de novo CLTC variants.

From: De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Fig. 2

(a–f) Brain magnetic resonance imaging (MRI). The structure of the corpus callosum was normal in (a) individual 3 at 5 years (T1) and (b) individual 4 at 23 months, while hypoplasia of the corpus callosum (white arrows) was observed in (c) individual 5 at 2 months (T2), (d) individual 6 at 11 years (T2), (e) individual 9 at 4 years (T1), and (f) individual 12 at 2.5 years. (g–n) Craniofacial dysmorphisms, such as long face with high forehead, large ears, long palpebral fissures, midface hypoplasia, bulbous tip of the nose, deep philtrum, wide mouth, and large upper central incisors (individuals are ordered by increasing age at clinical photograph).

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