Fig. 1: Clinical phenotypes of individuals with TCEAL1 variants.

A Family pedigrees of affected individuals, with TCEAL1 variant indicated. Affected individuals harboring TCEAL1 variants are indicated with black filled symbols, numbered, and highlighted by the arrows. B Clinical photographs of affected individuals. Individual 1 has a coarse face, with straight eyebrows, deep-set and elongated palpebral fissures, prominent nasal tip, short philtrum, pointy chin, and a high anterior hairline. Hands with short appearing distal phalanges and mild bilateral fifth digit clinodactyly. Feet with hallux valgus. Individual 2 has deep-set and long palpebral fissures with mild downslant, a broad nasal bridge, thin and slightly tented upper lip vermilion, small ears, hands with short appearing distal phalanges and flat feet. Individual 3 has a triangular face, with a high and wide forehead, frontal bossing, hypertelorism, downslanting palpebral fissures, hypoplasia of the alae nasae, short philtrum and thin upper and lower lip vermilion. Feet are flat and in valgus position. Individual 4 has a high anterior hairline and frontal bossing, deep-set and elongated palpebral fissures with mild ptosis, bulbous nose with a flattened nasal bridge and round nasal tip, hypertelorism, micrognathia, brachydactyly and low-set ears. C T2 weighted brain MRI images from Individual 2 showing bilateral frontal focal subcortical heterotopia (indicated with arrow heads). D Schematic representation of the TCEAL1 protein (UniProt: Q15170, 159 aa). Three domains are indicated: the arginine/serine (RS) rich domain (green), the zinc finger-like (ZnF-L) domain (brown), and the helix-turn-helix (HTH) domain (grey). Variants reported in this paper (above), and the previously reported de novo variants in TCEAL1 [5] (below) are indicated. In red are variants found in females and in blue are variants found in males. Red dotted line represents the previously reported ~14 kb TCEAL1 deletion.