Fig. 1: Pedigrees and clinical characteristics of individuals harboring biallelic disease-causing variants in PCDHGC4. | Genetics in Medicine

Fig. 1: Pedigrees and clinical characteristics of individuals harboring biallelic disease-causing variants in PCDHGC4.

From: Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Fig. 1

(a) Pedigrees of nine unrelated families with disease-causing variants in PCDHGC4. All affected siblings (solid symbols) in each family carry homozygous disease-causing variants in PCDHGC4 while unaffected  parents are heterozygous for identified PCDHGC4 variants (white symbols). (b) Upper panel: facial features of subjects IV-3 and V-1 from family 1 (left), clinical characteristics of subjects II-1 and II-2 from family 2 showing kyphoscoliosis, clinodactyly and hallux valgus (subject II-1), and kyphosis and hypoplasia of the toes (subject II-2). Lower panel (from left to right): facial features and hand anomalies observed in subjects II-1 (22 years) and II-3 (14 years) from family 4, clinical characteristics of subjects VI-1 and VI-2 from family 5, and subjects IV-2 and IV-3 from family 6, and facial features and feet anomalies observed subject VI-1 from family 8.

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