Absent gallbladder, Absent thumb, Arachnodactyly, Arachnoid cyst, Atrial septal defect, Auditory hallucinations, Autistic behavior, Bifid uvula, Bilateral renal dysplasia, Blue sclerae, Broad lateral eyebrow, Cerebellar hemisphere hypoplasia, Cerebellar hypoplasia, Cerebral visual impairment, Cervical ribs, Chiari malformation, Chronic diarrhea, Cleft palate, Craniosynostosis, Curly hair, Decreased circulating IgG level, Deeply set eye, Depressed nasal bridge, Developmental regression, Dilation of lateral ventricles, Downslanted palpebral fissures, Downturned corners of mouth, Dysphagia, Dysplastic corpus callosum, Emphysema, Epicanthus, Esotropia, Exotropia, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Feeding difficulties in infancy, Fetal distress, Flexion contracture, Frontal bossing, Full cheeks, Gastroesophageal reflux, Gastrointestinal dysmotility, Gastroparesis, Gastrostomy tube feeding in infancy, Generalized hypotonia, Generalized non-motor (absence) seizure, Generalized-onset seizure, Global brain atrophy, Global developmental delay, Hearing impairment, Hemivertebrae, High palate, Horseshoe kidney, Hyperextensibility at elbow, Hyperextensible hand joints, Hypermetropia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Ischemic stroke, Joint hypermobility, Kyphoscoliosis, Kyphosis, Low-set ears, Lumbar hyperlordosis, Metopic synostosis, Myopia, Narrow forehead, Narrow mouth, Nystagmus, Optic atrophy, Optic nerve hypoplasia, Patent ductus arteriosus after birth at term, Periventricular leukomalacia, Polymicrogyria, Progressive ventriculomegaly, Progressive visual loss, Prominent forehead, Proportionate short stature, Protruding ear, Recurrent infections, Relative macrocephaly, Respiratory insufficiency, Rib fusion, Sagittal craniosynostosis, Scoliosis, Secretory IgA deficiency, Seizure, Short foot, Short nose, Short philtrum, Short stature, Simplified gyral pattern, Slender long bone, Small hand, Smooth philtrum, Soft, doughy skin, Sparse eyebrow, Spasticity, Strabismus, Submucous cleft soft palate, Thin upper lip vermilion, Thin vermilion border, Transient ischemic attack, Unilateral lung agenesis, Unilateral renal agenesis, Ventriculomegaly, Wide nasal bridge