Anteverted nares, Anxiety, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the ribs, Atresia of the external auditory canal, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Blepharophimosis, Brachycephaly, Brachydactyly, Broad-based gait, Cataract, Cerebral cortical atrophy, Choanal atresia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Compulsive behaviors, Conductive hearing impairment, Congenital diaphragmatic hernia, Congenital, generalized hypertrichosis, Constipation, Cryptorchidism, Curly eyelashes, Cutis marmorata, Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Delayed gross motor development, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal tip, Dilatation of renal calices, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dysphagia, Elbow dislocation, Epicanthus, Facial asymmetry, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Gastroesophageal reflux, Generalized hirsutism, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, High forehead, High palate, Highly arched eyebrow, Hip dislocation, Hip dysplasia, Hirsutism, Hyperactivity, Hyperextensibility at elbow, Hypertelorism, Hypertrophic cardiomyopathy, 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, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low frustration tolerance, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micromelia, Motor stereotypy, Multicystic kidney dysplasia, Myopia, Narrow forehead, Narrow palpebral fissure, Neurological speech impairment, Nystagmus, Oligodactyly, Pectus excavatum, Peripheral neuropathy, Phthisis bulbi, Poor speech, Premature birth, Prenatal movement abnormality, Primary amenorrhea, Prominent nasal bridge, Proximal placement of thumb, Psychomotor deterioration, Ptosis, Pyloric stenosis, Radioulnar synostosis, Renal insufficiency, Rhizomelia, Round face, Sacral dimple, Seizure, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short attention span, Short foot, Short middle phalanx of finger, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short toe, Sleep disturbance, Small hand, Smooth philtrum, Spasticity, Strabismus, Synophrys, Talipes equinovarus, Tapered finger, Telecanthus, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Truncal obesity, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Volvulus, Webbed neck, Wide nasal bridge, Wide nose, Widely spaced teeth