Abnormal social behavior, Abnormal thorax morphology, Abnormal vertebral morphology, Aggressive behavior, Aortic valve stenosis, Aplasia/Hypoplasia of the skin, Arachnodactyly, Asymmetry of the mouth, Bilateral talipes equinovarus, Broad hallux, Calcific stippling, Cataract, Cleft palate, Clinodactyly of the 5th finger, Concave nasal ridge, Congenital ichthyosiform erythroderma, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hand polydactyly, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hip dysplasia, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypoplasia of the corpus callosum, Hypotonia, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Limb hypertonia, Long neck, Low-set ears, Malar flattening, Microcornea, Micrognathia, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Polydactyly, Polyhydramnios, Postaxial polydactyly, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Rhizomelia, Sacral dimple, Scarring alopecia of scalp, Scoliosis, Seizure, Sensorineural hearing impairment, Short neck, Short stature, Sparse eyelashes, Sparse hair, Spasticity, Spotty hypopigmentation, Stippled calcification in carpal bones, Talipes equinovarus, Tarsal stippling, Telecanthus, Thickened nuchal skin fold, Tracheal calcification, Tracheal stenosis, Upslanted palpebral fissure, Wide anterior fontanel

skin lesions