Camptodactyly of finger, Celiac disease, Clinodactyly of the 5th finger, Coarctation of aorta, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital posterior urethral valve, Congenital pseudoarthrosis of the clavicle, Constipation, Cryptorchidism, Deeply set eye, Delayed skeletal maturation, Downturned corners of mouth, Enlarged joints, Epididymal cyst, Expressive language delay, Feeding difficulties in infancy, Generalized cerebral atrophy/hypoplasia, Generalized hirsutism, Global developmental delay, High pitched voice, Hirsutism, Hydronephrosis, Hypermetropia, Hypoplasia of penis, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Low posterior hairline, Malabsorption, Mesocardia, Nasal speech, Nephrocalcinosis, Neurological speech impairment, Persistent left superior vena cava, Posteriorly rotated ears, Prominent nose, Recurrent otitis media, Short clavicles, Short neck, Short philtrum, Short stature, Smooth philtrum, Strabismus, Telecanthus, Thin vermilion border, Triangular face, Trigonocephaly, Umbilical hernia, Underdeveloped nasal alae, Varicocele, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility, obsolete Joint laxity