Aplasia/Hypoplasia of the cerebellum, Astigmatism, Atresia of the external auditory canal, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Cataract, Cerebral cortical atrophy, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Compulsive behaviors, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Dislocated radial head, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Glaucoma, Hiatus hernia, High palate, High, narrow palate, Highly arched eyebrow, Hip dislocation, Hip dysplasia, Hirsutism, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic labia majora, Hypoplastic male external genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Hypotonia, Increased nuchal translucency, Intellectual disability, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Joint stiffness, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Malrotation of colon, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nystagmus, Oligodactyly, Optic atrophy, Optic disc coloboma, Otitis media, Pectus excavatum, Peripheral neuropathy, Phocomelia, Phthisis bulbi, Pneumonia, Premature birth, Prenatal movement abnormality, Primary amenorrhea, Proptosis, Proteinuria, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Reduced renal corticomedullary differentiation, Renal cyst, Renal hypoplasia, Renal insufficiency, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Short sternum, Single transverse palmar crease, Sleep disturbance, Small hand, Spasticity, Strabismus, Supernumerary ribs, Synophrys, Talipes equinovarus, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Thrombocytopenia, Toe syndactyly, Truncal obesity, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Volvulus, Weak cry, Widely spaced teeth, obsolete Hand oligodactyly

abnormal sphenoid bone morphology, abnormal sternum ossification, abnormal upper lip morphology, abnormal ventricle myocardium morphology, atrium hypoplasia, cardiovascular system phenotype, circling, decreased birth body size, decreased body size, decreased brain size, decreased brown adipose tissue amount, decreased corpus callosum size, decreased cranial neural crest cell proliferation, decreased fetal size, decreased fetal weight, decreased white adipose tissue amount, delayed bone ossification, delayed endochondral bone ossification, delayed intramembranous bone ossification, embryonic lethality during organogenesis, complete penetrance, eye inflammation, eyelids open at birth, face hypoplasia, limb grasping, mandible hypoplasia, no abnormal phenotype detected, postnatal lethality, premature death, short mandible, short radius, small ethmoid bone, small mandible, upturned snout