Bifid nasal tip, Bifid tongue, Bilateral postaxial polydactyly, Bilateral tonic-clonic seizure, Brachycephaly, Brachydactyly, Broad first metatarsal, Broad hallux, Broad nasal tip, Central retinal vessel vascular tortuosity, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly of the 5th finger, Complete duplication of hallux phalanx, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Delayed speech and language development, Depressed nasal bridge, Dilation of lateral ventricles, Disproportionate short-limb short stature, Disproportionate shortening of the tibia, Finger aplasia, Finger clinodactyly, Finger syndactyly, Flared metaphysis, Global developmental delay, Hamartoma of tongue, Hand polydactyly, Hepatic fibrosis, High palate, Horizontal ribs, Hydrocephalus, Hydrops fetalis, Hypermetropia, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the epiglottis, Hypoplasia of the maxilla, Hypoplastic male external genitalia, Infantile muscular hypotonia, Intestinal malrotation, Lateral clavicle hook, Lobulated tongue, Malar flattening, Median cleft upper lip, Mesomelia, Mesomelic leg shortening, Metaphyseal irregularity, Microglossia, Micrognathia, Micropenis, Motor delay, Narrow chest, Natal tooth, Pachygyria, Pancreatic fibrosis, Partial duplication of the phalanges of the hallux, Pectus carinatum, Pectus excavatum, Peg-shaped maxillary lateral incisors, Platyspondyly, Polycystic kidney dysplasia, Polysyndactyly of hallux, Porencephalic cyst, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial foot polydactyly, Preaxial hand polydactyly, Protruding ear, Pulmonary hypoplasia, Retinal dystrophy, Scoliosis, Short long bone, Short palm, Short ribs, Short stature, Submucous cleft soft palate, Syndactyly, Tachypnea, Talon cusp, Taurodontia, Telecanthus, Thick hair, Thoracic dysplasia, Tongue nodules, Tricuspid regurgitation, Unilateral alveolar cleft of maxilla, Velopharyngeal insufficiency, Ventricular septal defect, Wide nasal bridge, Wormian bones, Y-shaped metacarpals

abnormal retina outer nuclear layer morphology, abnormal startle reflex, decreased birth body size, decreased body length, decreased body size, decreased bone mineral content, decreased cardiac output, decreased cardiac stroke volume, decreased grip strength, decreased prepulse inhibition, decreased startle reflex, decreased total retina thickness, domed cranium, obstructive hydrocephaly, postnatal lethality, postnatal lethality, incomplete penetrance, premature death, proportional dwarf, reduced female fertility, small olfactory bulb, testis hypoplasia