Bulbous nose, Camptodactyly, Cleft palate, Clinodactyly of the 5th finger, Conical tooth, Conspicuously happy disposition, Convex nasal ridge, Decreased testicular size, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Facial asymmetry, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Growth delay, Happy demeanor, High forehead, High palate, Hyperactivity, Hypotonia, Incomprehensible speech, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizure, Short stature, Sleep disturbance, Smooth philtrum, Sparse hair, Strabismus, Talipes equinovarus, Thin skin, Thin vermilion border, Toe clinodactyly, obsolete Joint hyperflexibility

abnormal maxilla morphology, abnormal mean corpuscular volume, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal palate morphology, abnormal temporal bone morphology, abnormal uterus morphology, absent lower incisors, absent submandibular gland, absent thyroid cartilage, asymmetric snout, brittle teeth, decreased circulating bilirubin level, enlarged lymph nodes, impaired osteoblast differentiation, increased circulating alkaline phosphatase level, increased exploration in new environment, palatal shelves fail to meet at midline, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, short mandible, short maxilla