Autistic behavior, Behavioral abnormality, Bilateral sensorineural hearing impairment, Blindness, Brachycephaly, Brachydactyly, Broad nasal tip, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Chronic constipation, Compulsive behaviors, Congenital diaphragmatic hernia, Constipation, Delayed CNS myelination, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Duplicated collecting system, EEG abnormality, Enlarged cisterna magna, Facial hypotonia, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Feeding difficulties in infancy, Focal impaired awareness seizure, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hyperactivity, Hypermetropia, Hypertelorism, Hypoglycemic seizures, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Incoordination, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Iris coloboma, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Midface retrusion, Motor stereotypy, Myopia, Narrow mouth, Obesity, Obstructive sleep apnea, Open mouth, Optic atrophy, Pointed chin, Posteriorly rotated ears, Rod-cone dystrophy, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Severe expressive language delay, Short neck, Short philtrum, Short stature, Sleep disturbance, Strabismus, Subcortical cerebral atrophy, Thin upper lip vermilion, Ventral hernia, Visual impairment, Vitiligo, obsolete Joint laxity