Abnormality of retinal pigmentation, Abnormality of the nasal alae, Acrocyanosis, Advanced eruption of teeth, Anodontia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Autistic behavior, Babinski sign, Bifid sternum, Bilateral tonic-clonic seizure, Bipolar affective disorder, Brachydactyly, Broad finger, Broad nasal tip, Broad palm, Cataract, Cerebral cortical atrophy, Clinodactyly of the 2nd toe, Coarse facial features, Coarse hair, Coxa valga, Craniofacial hyperostosis, Cutis laxa, Cutis marmorata, Decreased body weight, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Depressed nasal bridge, Depression, Downslanted palpebral fissures, Drooling, Drumstick terminal phalanges, Epicanthus, Everted lower lip vermilion, Facial palsy, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, High palate, Highly arched eyebrow, Hyperconvex fingernails, Hyperextensibility of the finger joints, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Kyphoscoliosis, Kyphosis, Large hands, Long foot, Long palpebral fissure, Long philtrum, Lumbar kyphosis, Macrocephaly, Mandibular prognathia, Meckel diverticulum, Microcephaly, Midface retrusion, Mild neurosensory hearing impairment, Mitral regurgitation, Moderate sensorineural hearing impairment, Motor delay, Muscle weakness, Narrow iliac wing, Narrow palate, Neurological speech impairment, Obesity, Oligodontia, Open mouth, Optic atrophy, Pectus carinatum, Pectus excavatum, Periorbital fullness, Pes planus, Poor speech, Progressive spasticity, Prominent forehead, Prominent supraorbital ridges, Protruding ear, Pseudoepiphyses of the metacarpals, Psychosis, Pyloric stenosis, Rectal prolapse, Redundant skin, Scoliosis, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Severe global developmental delay, Short distal phalanx of finger, Short metacarpal, Short stature, Shortening of all distal phalanges of the fingers, Single transverse palmar crease, Skeletal muscle atrophy, Sleep apnea, Small for gestational age, Spasticity, Strabismus, Tapered finger, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick nasal septum, Thickened calvaria, Thin upper lip vermilion, Urinary incontinence, Uterine prolapse, Ventriculomegaly, Wide mouth, Wide nose, Widely spaced teeth, Widened subarachnoid space, obsolete Joint hyperflexibility

abnormal postsynaptic density morphology, abnormal synapse morphology, abnormal tooth root development, cardiovascular system phenotype, decreased body length, decreased body size, decreased bone mass, decreased bone trabecula number, decreased cranium length, decreased skeletal muscle glycogen level, decreased white adipose tissue amount, digestive/alimentary phenotype, endocrine/exocrine gland phenotype, hearing/vestibular/ear phenotype, hematopoietic system phenotype, immune system phenotype, increased circulating glucose level, integument phenotype, liver/biliary system phenotype, muscle phenotype, nervous system phenotype, reduced AMPA-mediated synaptic currents, renal/urinary system phenotype, reproductive system phenotype, respiratory system phenotype, short excitatory postsynaptic current decay time, short frontal bone, small frontal bone, small interparietal bone, small parietal bone, taste/olfaction phenotype, vision/eye phenotype