Abnormality of the voice, Abnormally folded helix, Agenesis of corpus callosum, Aggressive behavior, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Ascending tubular aorta aneurysm, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Blepharophimosis, Brachycephaly, Brachydactyly, Broad hallux, Broad neck, Broad thumb, Broad toe, Broad-based gait, Bulbous nose, Cafe-au-lait spot, Camptodactyly, Camptodactyly of finger, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 2nd finger, Coarctation of aorta, Coarse facial features, Compulsive behaviors, Constipation, Craniosynostosis, Cryptorchidism, Cupped ear, Decreased body weight, Deep philtrum, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Disproportionate tall stature, Downslanted palpebral fissures, Drooling, Emotional lability, Epicanthus, Facial wrinkling, Feeding difficulties, Fine hair, Finger syndactyly, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Fused teeth, Gastroesophageal reflux, Generalized hypotonia, Generalized joint hypermobility, Generalized neonatal hypotonia, Global developmental delay, Gray matter heterotopia, Hallucinations, Hearing impairment, High forehead, High palate, High pitched voice, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the maxilla, Hypospadias, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intestinal malrotation, Joint contracture of the hand, Joint hypermobility, Limited elbow extension and supination, Long face, Long nose, Long philtrum, Low frustration tolerance, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroorchidism, Malar flattening, Malrotation of colon, Micrognathia, Microtia, Microtia, first degree, Mitral valve prolapse, Motor delay, Multiple joint contractures, Narrow face, Narrow mouth, Narrow nasal bridge, Narrow palate, Nasal speech, Neonatal hypotonia, Neurological speech impairment, Open mouth, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Pectus excavatum, Pes planus, Plagiocephaly, Postnatal macrocephaly, Premature birth, Progressive flexion contractures, Prominent fingertip pads, Prominent forehead, Prominent nasal bridge, Prominent nose, Prominent occiput, Protruding ear, Psychosis, Ptosis, Pulmonary arterial hypertension, Pyloric stenosis, Radial deviation of finger, Sacral dimple, Schizophrenia, Scoliosis, Seizure, Sensorineural hearing impairment, Short chin, Short neck, Short philtrum, Short stature, Single transverse palmar crease, Skin tags, Slender build, Small pituitary gland, Small scrotum, Smooth philtrum, Sparse hair, Split hand, Stenosis of the external auditory canal, Strabismus, Syndactyly, Thick lower lip vermilion, Thick nasal alae, Thick vermilion border, Thin upper lip vermilion, Thin vermilion border, Triangular face, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Widely patent fontanelles and sutures, obsolete Impaired social interactions, obsolete Joint hyperflexibility, obsolete Joint laxity

absent second pharyngeal arch, absent third pharyngeal arch, absent vertebral arch, caudal body truncation, curly tail, decreased somite size, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, failure of heart looping, kinked neural tube, no abnormal phenotype detected, open neural tube, prenatal lethality, incomplete penetrance