Achilles tendon contracture, Acute lymphoblastic leukemia, Agenesis of permanent teeth, Anal stenosis, Anemia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Aplastic anemia, Asthma, Attention deficit hyperactivity disorder, Autistic behavior, Axial hypotonia, Blepharophimosis, Brachydactyly, Broad nasal tip, Broad thumb, Carious teeth, Cataract, Cerebral atrophy, Cerebral visual impairment, Chorea, Chronic diarrhea, Clinodactyly of the 5th finger, Cortical dysplasia, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Decreased circulating IgA level, Decreased circulating IgG level, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depression, Dry skin, Dysarthria, Dyskinesia, Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Eczematoid dermatitis, Elevated circulating creatine kinase concentration, Epicanthus, Epileptic spasm, Episodic vomiting, Facial asymmetry, Failure to thrive, Feeding difficulties in infancy, Fine hair, Focal-onset seizure, Gastroesophageal reflux, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hearing impairment, High forehead, High palate, High pitched voice, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoparathyroidism, Hypoplasia of the corpus callosum, Hypoplasia of the iris, Hypoplastic toenails, Hypospadias, Hypotelorism, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Large basal ganglia, Long face, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphoma, Malabsorption, Megalocornea, Metatarsus adductus, Microcephaly, Micrognathia, Microphthalmia, Motor delay, Motor stereotypy, Multifocal epileptiform discharges, Myopia, Narrow face, Nasogastric tube feeding, Neoplasm, Neuroblastoma, Nystagmus, Otitis media, Pectus excavatum, Pes cavus, Pes planus, Polymicrogyria, Poor speech, Prominent nasal bridge, Prominent nose, Protruding ear, Ptosis, Rectal prolapse, Recurrent infections, Respiratory insufficiency, Rod-cone dystrophy, Sacral dimple, Sandal gap, Scoliosis, Seizure, Short attention span, Short chin, Short foot, Short palpebral fissure, Short philtrum, Short stature, Sleep disturbance, Sloping forehead, Small face, Small for gestational age, Small hand, Smooth philtrum, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Spasticity, Spina bifida occulta, Strabismus, Submucous cleft hard palate, Syndactyly, Synophrys, Telecanthus, Thick eyebrow, Thick upper lip vermilion, Thrombocytopenia, Toe syndactyly, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Velopharyngeal insufficiency, Wide anterior fontanel, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility

abnormal hair cycle anagen phase, abnormal hair shedding, abnormal humerus morphology, abnormal hypoglossal nerve topology, abnormal infrahyoid muscle connection, abnormal optic chiasm morphology, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal snout morphology, abnormal spine curvature, abnormal systemic artery morphology, abnormal thymus capsule morphology, abnormal vertebral artery topology, absent ductus venosus valve, absent hypoglossal canal, absent hypoglossal nerve, absent segment of posterior cerebral artery, absent stapedial artery, basisphenoid bone foramen, decreased body length, decreased body size, decreased bone mineral content, decreased circulating amylase level, decreased circulating free fatty acids level, decreased circulating glucose level, decreased circulating glycerol level, decreased energy expenditure, decreased grip strength, decreased lean body mass, decreased mean corpuscular hemoglobin, decreased mean corpuscular volume, decreased percent body fat/body weight, disheveled coat, ductus venosus stenosis, excessive tearing, fusion of vertebral arches, improved glucose tolerance, increased carbon dioxide production, increased energy expenditure, increased erythrocyte cell number, increased oxygen consumption, increased trigeminal neuroma incidence, intraembryonal intestine elongation, lethality, incomplete penetrance, persistent dorsal ophthalmic artery, persistent trigeminal artery, preweaning lethality, incomplete penetrance, reduced sympathetic cervical ganglion size, retroesophageal right subclavian artery, small superior cervical ganglion, subcutaneous edema, testis degeneration, thin hypoglossal nerve, thin motoric part of trigeminal nerve, thoracoschisis