Autism, Bicuspid aortic valve, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Cataract, Cerebral cortical atrophy, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Cognitive impairment, Compulsive behaviors, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Facial asymmetry, Failure to thrive, Feeding difficulties in infancy, Flat face, Frontal bossing, Gastroesophageal reflux, Generalized hirsutism, Glaucoma, Global developmental delay, Hearing impairment, High palate, Highly arched eyebrow, Hip dislocation, Hip dysplasia, Hirsutism, Hooded eyelid, Hydroureter, 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, Laterally extended eyebrow, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Microdontia, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Nasolacrimal duct obstruction, Neurological speech impairment, Nevus flammeus, Nystagmus, Oligodactyly, Patent ductus arteriosus, Pectus excavatum, Peripheral neuropathy, Phthisis bulbi, Plagiocephaly, Poor speech, Posteriorly rotated ears, Premature birth, Prenatal movement abnormality, Primary amenorrhea, Primary microcephaly, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Pyloric stenosis, Radioulnar synostosis, Renal insufficiency, Secondary microcephaly, Seizure, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short 5th finger, Short foot, Short neck, Short nose, Short stature, Single transverse palmar crease, Sleep disturbance, Small hand, Smooth philtrum, Spasticity, Strabismus, Synophrys, Talipes equinovarus, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Truncal obesity, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Volvulus, Widely spaced teeth