Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Broad nasal tip, Cataract, Cerebral cortical atrophy, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Compulsive behaviors, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Decreased muscle mass, Decreased testicular size, Deeply set eye, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Emotional lability, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Generalized hypotonia, Glaucoma, Global developmental delay, Gynecomastia, Happy demeanor, Hearing impairment, High palate, Highly arched eyebrow, Hip dislocation, Hip dysplasia, Hirsutism, Hypertelorism, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Hypotonia, Increased nuchal translucency, Intellectual disability, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Joint stiffness, Kyphosis, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Macrotia, Malar prominence, Microcephaly, Microcornea, Micrognathia, Micromelia, Micropenis, Microtia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nevus, Nystagmus, Obesity, Oligodactyly, Pectus excavatum, Peripheral neuropathy, Pes cavus, Pes planus, Phthisis bulbi, Poor speech, Premature birth, Prenatal movement abnormality, Primary amenorrhea, Prominent nasal bridge, Prominent supraorbital ridges, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Renal insufficiency, Retrognathia, Seizure, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short ear, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Spasticity, Specific learning disability, Strabismus, Synophrys, Talipes equinovarus, Tapered finger, Telecanthus, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Tooth malposition, Truncal obesity, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Volvulus, Widely spaced teeth