Table 1 Clinical phenotypes of affected individuals

Patient (sex)	Age at exam	Speech	Intellect	Motor	Ears: Low-set posterior rotated	Flat broad nasal bridge	Eyebrows: tented with synophris	Upper lip: Median cleft/pseudocleft	Tongue: Tethered, lobed, with hamartomas	Lower gingival cleft	Polydactyly and Brachydactyly	Duplicated/broad hallux	Angulated 1^st tow	Micropenis
F1-V-15(M)	9 y	None	Comprehends basic instructions	Crawled at 5 y. Stands with support as of 8 y	+	+	+	+	+	+	-	+	+	+
F2-II-1(M)	1 y	None	?	No sitting	+	+	+	+	+	+	+	-	-	+
F1-V3(M)	13 y	None	Comprehends basic instructions	Sat at 2 y. Stands and walks (frequent falls) from age 4 y.	+	+	+	+	+	+	+	+	+	+
F1-V-11(M)	18 y	None	Comprehends basic instructions	Sat at 5 y.Walks from age 10 y	+	+	+	-	+	+	+	+	+	Not relevant
F1-V-8(M)	1 y	None	?	Sat at 1 y	+	+	+	+	+	+	+	+	+	+

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