Fig. 1: Clinical features and dysmorphisms. | Genetics in Medicine

Fig. 1: Clinical features and dysmorphisms.

From: Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

Fig. 1

(a) Visual overview of clinical features present in six individuals with a heterozygous FOXP4 variant, more details on phenotypes are provided in Table S1. + present, - not present, NA not applicable, NK not known. *Short stature in history, after growth hormone treatment now normal height. (b) Facial phenotype of three individuals with a FOXP4 variant. Recurrently reported dysmorphisms include tented and/or flared eyebrows, ptosis, small teeth, and gingival hyperplasia. (c) Additional abnormalities as noted by physical examination. In individual 2, asymmetric scapulae were reported. Individual 4 presented with a very short stature (<P1) and a short and broad neck.

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