Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bleeding, Abnormal bone structure, Abnormal delivery, Abnormal elasticity of skin, Abnormality of blood and blood-forming tissues, Abnormality of blood circulation, Abnormality of body height, Abnormality of bone mineral density, Abnormality of calvarial morphology, Abnormality of cardiovascular system physiology, Abnormality of connective tissue, Abnormality of corneal size, Abnormality of corneal thickness, Abnormality of finger, Abnormality of fluid regulation, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of prenatal development or birth, Abnormality of refraction, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the abdominal wall, Abnormality of the anterior segment of the eye, Abnormality of the bladder, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cornea, Abnormality of the curvature of the cornea, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the immune system, Abnormality of the integument, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the periorbital region, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the retina, Abnormality of the sclera, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the teeth, Abnormality of the thorax, Abnormality of the upper limb, Abnormality of the urinary system, Abnormality of the vertebral column, Abnormality of toe, Abnormality of vision, Abnormal joint morphology, Abnormal muscle tone, Abnormal shape of the frontal region, All, Aplasia/Hypoplasia of the skin, Arachnodactyly, Autosomal recessive inheritance, Bladder diverticula, Blindness, Blue sclerae, Bruising susceptibility, Cognitive impairment, Congestive heart failure, Decreased corneal thickness, Decreased fetal movement, Decreased pulmonary function, Dental crowding, Disproportionate tall stature, Edema, Epicanthus, Frontal bossing, Functional respiratory abnormality, Gastrointestinal hemorrhage, Generalized abnormality of skin, Generalized hypotonia, Glaucoma, Global developmental delay, Growth abnormality, Hernia, Hernia of the abdominal wall, Hyperbilirubinemia, Increased corneal curvature, Inguinal hernia, Internal hemorrhage, Joint dislocation, Joint hypermobility, Joint laxity, Keratoconus, Kyphosis, Localized skin lesion, Long fingers, Long toe, Microcornea, Misalignment of teeth, Mode of inheritance, Molluscoid pseudotumors, Motor delay, Muscular hypotonia, Myopia, Osteoporosis, Pes planus, Phenotypic abnormality, Pneumonia, Positional foot deformities, Premature rupture of membranes, Prenatal movement abnormality, Progressive congenital scoliosis, Recurrent infections, Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent respiratory infections, Reduced bone mineral density, Respiratory insufficiency, Respiratory tract infection, Retinal detachment, Scoliosis, Slender finger, Soft skin, Subcutaneous hemorrhage, Talipes, Talipes equinovarus, Tall stature, Thin skin, Thoracoabdominal wall defects, Vascular skin abnormality, Visual impairment.