Figure 1.

Phenotypic Features of HPMRS Associated with Mutations in PGAP2

(A and B) Face of individual A from family A at the ages of 3 (A) and 28 years (B).

(C) Normal-appearing fingernails of the affected individual in family A.

(D and E) Facial dysmorphism of the affected individual in family B at the age of 2 years includes wide palpebral fissures, a short nose with a broad nasal bridge, a tented upper lip, and a small jaw.

(F) Distal tapering of fingers and mild nail hypoplasia of the fifth digit of the affected individual in family B.