Abnormal vertebral morphology, Abnormality of calvarial morphology, Abnormality of corneal size, Abnormality of the adrenal glands, Abnormality of the dentition, Abnormality of the face, Abnormality of the kidney, Abnormality of the skeletal system, Abnormality of the ulna, Abnormality of the ureter, Absent eyebrow, Absent eyelashes, Absent radius, Absent thumb, Agenesis of corpus callosum, Agenesis of permanent teeth, Anal atresia, Anemia, Annular pancreas, Anomalous splenoportal venous system, Anteriorly placed anus, Aphalangy of the hands, Aplasia of metacarpal bones, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arthrogryposis multiplex congenita, Basal cell carcinoma, Bicoronal synostosis, Bifid uvula, Blepharophimosis, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Brittle hair, Broad forehead, Bronchiectasis, Carious teeth, Carpal bone aplasia, Carpal synostosis, Cataract, Choanal stenosis, Cleft palate, Concave nasal ridge, Conductive hearing impairment, Congenital hip dislocation, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Deeply set eye, Delayed eruption of teeth, Dermal atrophy, Diarrhea, Downslanted palpebral fissures, Dry skin, Epicanthus, Erythema, Failure to thrive in infancy, Flat forehead, Flexion contracture, Forearm reduction defects, Frontal bossing, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, High palate, High, narrow palate, Hydrocephalus, Hydronephrosis, Hyperkeratosis, Hypertelorism, Hypertension, Hypogonadism, Hypopigmented skin patches, Hypoplasia of teeth, Hypoplasia of the radius, Hypoplasia of the ulna, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Joint dislocation, Juvenile cataract, Keratoconus, Kyphoscoliosis, Lambdoidal craniosynostosis, Large fontanelles, Limitation of joint mobility, Limited elbow movement, Limited shoulder movement, Long face, Low-set, posteriorly rotated ears, Lymphoma, Malabsorption, Mandibular prognathia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Midface capillary hemangioma, Mottled pigmentation, Myelodysplasia, Myopia, Nail dystrophy, Narrow face, Narrow mouth, Narrow nasal bridge, Narrow palpebral fissure, Nausea and vomiting, Neoplasm, Neoplasm of the stomach, Nephropathy, Neutropenia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Orofacial cleft, Osteopenia, Osteoporosis, Osteosarcoma, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Patellar hypoplasia, Perineal fistula, Poikiloderma, Polymicrogyria, Premature graying of hair, Prematurely aged appearance, Prominent nasal bridge, Proptosis, Ptosis, Pyloric stenosis, Rectovaginal fistula, Rib fusion, Sagittal craniosynostosis, Scoliosis, Seizure, Sensorineural hearing impairment, Short chin, Short foot, Short humerus, Short nose, Short palm, Short philtrum, Short stature, Short thumb, Skeletal dysplasia, Skin ulcer, Slender nose, Small for gestational age, Small hand, Sparse eyelashes, Sparse hair, Spina bifida occulta, Squamous cell carcinoma, Stiff interphalangeal joints, Strabismus, Supernumerary tooth, Talipes equinovarus, Telangiectasia, Tooth agenesis, Ulnar bowing, Underdeveloped nasal alae, Urogenital fistula, Vesicoureteral reflux, Zonular cataract, obsolete Abnormality of the metacarpal bones, obsolete External ear malformation, obsolete Hand oligodactyly, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow

embryonic lethality prior to organogenesis, embryonic lethality, complete penetrance, growth retardation of incisors, growth retardation of molars, increased lymphoma incidence, neonatal lethality, incomplete penetrance, polyphalangy, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, skin lesions, small thymus, vision/eye phenotype