Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Bicuspid aortic valve, Blepharophimosis, Broad chin, Broad forehead, Bulbous nose, Cataract, Cleft palate, Cleft upper lip, Coarse facial features, Conspicuously happy disposition, Cryptorchidism, Delayed speech and language development, Dry skin, Eczema, Epicanthus, Everted lower lip vermilion, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, High forehead, High hypermetropia, High palate, High, narrow palate, Hip dislocation, Hip dysplasia, Hydronephrosis, Hyperactivity, Hypermetropia, Hypodontia, Hypopigmentation of hair, Hypoplasia of the corpus callosum, Hypospadias, Hypotelorism, Hypothyroidism, Hypotonia, Hypotrophy of the small hand muscles, Ichthyosis, Impulsivity, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Kyphosis, Laryngomalacia, Long face, Macrotia, Microcephaly, Microdontia, Morphological central nervous system abnormality, Narrow palate, Narrow palm, Nasal speech, Open mouth, Overfolded helix, Overfriendliness, Pear-shaped nose, Pectus excavatum, Poor speech, Positional foot deformity, Prominent fingertip pads, Prominent metopic ridge, Prominent nasal bridge, Protruding ear, Ptosis, Pulmonic stenosis, Pyloric stenosis, Renal duplication, Sacral dimple, Scoliosis, Seizure, Short stature, Slender finger, Small for gestational age, Spondylolisthesis, Strabismus, Thick nasal alae, Underdeveloped nasal alae, Upslanted palpebral fissure, Ureteral duplication, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Vertebral segmentation defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge, Widely spaced teeth

increased circulating alkaline phosphatase level, increased heart weight, irregularly shaped pupil, nervous system phenotype, preweaning lethality, complete penetrance