Abnormal pupil morphology, Abnormality of eye movement, Abnormality of hair texture, Abnormality of skin pigmentation, Abnormality of the dentition, Abnormality of the face, Abnormality of the gingiva, Abnormality of the skin, Absent earlobe, Alopecia of scalp, Aortic aneurysm, Aortic dissection, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arachnodactyly, Arterial dissection, Arterial stenosis, Arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric vessels, Ascending tubular aorta aneurysm, Atrophic scars, Bladder diverticulum, Blue sclerae, Bruising susceptibility, Camptodactyly, Carious teeth, Carotid cavernous fistula, Cerebellar cyst, Cerebellar hypoplasia, Cervical insufficiency, Cigarette-paper scars, Cognitive impairment, Congenital hip dislocation, Convex nasal ridge, Cryptorchidism, Cystocele, Deeply set eye, Delayed speech and language development, Dental crowding, Dermal translucency, Dilatation of the cerebral artery, Epicanthus, Excessive wrinkled skin, Fine hair, Flat face, Foot acroosteolysis, Fragile skin, Gastrointestinal infarctions, Gingival overgrowth, Gingivitis, Glaucoma, Global developmental delay, Hemoptysis, High, narrow palate, Hypermetropia, Hypermobility of distal interphalangeal joints, Hypertelorism, Hypertension, Hypokalemia, Hypoplasia of the brainstem, Hypoplastic lacrimal duct, Hypospadias, Intellectual disability, Internal hemorrhage, Irregular hyperpigmentation, Joint dislocation, Keratoconus, Lipoatrophy, Long face, Macule, Melanocytic nevus, Microdontia, Micrognathia, Migraine, Mitral valve prolapse, Molluscoid pseudotumors, Motor delay, Narrow mouth, Narrow nasal bridge, Narrow nasal ridge, Osteoarthritis, Osteolysis, Osteolytic defects of the phalanges of the hand, Pectus excavatum, Periodontitis, Peripheral arteriovenous fistula, Pneumothorax, Polymicrogyria, Premature birth, Premature delivery because of cervical insufficiency or membrane fragility, Premature loss of primary teeth, Premature loss of teeth, Prematurely aged appearance, Proptosis, Protruding ear, Ptosis, Pulmonary artery aneurysm, Reduced consciousness/confusion, Redundant skin, Renovascular hypertension, Respiratory insufficiency, Retrognathia, Scoliosis, Seizure, Short foot, Short philtrum, Short stature, Skeletal dysplasia, Skin ulcer, Sleep apnea, Slender finger, Small hand, Smooth philtrum, Spontaneous pneumothorax, Sprengel anomaly, Subcutaneous nodule, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Transient ischemic attack, Umbilical hernia, Uterine prolapse, Uterine rupture, Varicose veins, Vascular dilatation, Ventriculomegaly, Vertigo, obsolete Hypotrichosis, obsolete Joint hyperflexibility

embryonic lethality, complete penetrance, increased CD4-positive, alpha beta T cell number, increased CD8-positive, alpha-beta T cell number, increased alpha-beta T cell number, increased susceptibility to induced colitis, increased systemic arterial systolic blood pressure, increased vasoconstriction, muscle phenotype, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, skin fibrosis, skin lesions, thick dermal layer