HPO TermsAbnormal facial shape; Camptodactyly; Short digit; Single transverse palmar crease; Talipes equinovarus; Syndactyly; Patent ductus arteriosus; Cryptorchidism; Global developmental delay; Cutis laxa; Broad neck; Wide intermamillary distance; Pectus excavatum
RemarksPatient has a similarly affected older brother. Compound heterozygosity of mutations in patient not established and DNA samples from relatives were unavailable for testing.
© CAGS 2023. All rights reserved.