Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal delivery, Abnormal external genitalia, Abnormal facial shape, Abnormal glucose homeostasis, Abnormal glucose tolerance, Abnormalities of placenta and umbilical cord, Abnormality of adipose tissue, Abnormality of adrenal morphology, Abnormality of blood glucose concentration, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of cardiac atrium, Abnormality of circulating hormone level, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of dental eruption, Abnormality of facial adipose tissue, Abnormality of facial skeleton, Abnormality of facial soft tissue, Abnormality of finger, Abnormality of fontanelles, Abnormality of globe location, Abnormality of hair density, Abnormality of hair texture, Abnormality of head and neck, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of lipid metabolism, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of metabolism/homeostasis, Abnormality of mouth size, Abnormality of muscle morphology, Abnormality of phalanx of finger, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of skull ossification, Abnormality of subcutaneous fat tissue, Abnormality of the adrenal glands, Abnormality of the amniotic fluid, Abnormality of the atrial septum, Abnormality of the calvaria, Abnormality of the cardiac septa, Abnormality of the cardiovascular system, Abnormality of the choanae, Abnormality of the clavicles, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the distal phalanges of the toes, Abnormality of the distal phalanx of finger, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the integument, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nail, Abnormality of the nasal dorsum, Abnormality of the neck, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the phalanges of the toes, Abnormality of the pinna, Abnormality of the respiratory system, Abnormality of the rib cage, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the teeth, Abnormality of the thorax, Abnormality of the umbilical cord, Abnormality of the upper limb, Abnormality of the upper urinary tract, Abnormality of the ureter, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the vertebral column, Abnormality of toe, Abnormal joint morphology, Abnormal location of ears, Abnormal size of the palpebral fissures, Acroosteolysis (feet), Acroosteolysis of distal phalanges (feet), Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the skin, Autosomal recessive inheritance, Bird-like facies, Blepharophimosis, Choanal atresia, Cleft palate, Congenital malformation of the great arteries, Congenital pseudarthrosis of the clavicle, Decreased adipose tissue around neck, Decreased calvarial ossification, Decreased fetal movement, Decreased skull ossification, Decreased subcutaneous fat, Defect in the atrial septum, Delayed cranial suture closure, Dental crowding, Dermal atrophy, Diabetes mellitus, Displacement of the external urethral meatus, Enlarged thorax, Entropion, Epidermal hyperkeratosis, Epidermal thickening, Flexion contracture, Generalized abnormality of skin, Generalized lipodystrophy, Glucose intolerance, Growth abnormality, Growth delay, Heterogeneous, Hyperglycemia, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hypertelorism, Hypospadias, Increased anterioposterior diameter of thorax, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Kyphoscoliosis, Kyphosis, Large fontanelles, Lipodystrophy, Localized skin lesion, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Malformation of the heart and great vessels, Micrognathia, Misalignment of teeth, Mode of inheritance, Mottled pigmentation, Nail dysplasia, Narrow mouth, Narrow nasal ridge, Natal tooth, Oral cleft, Osteolysis, Osteolysis involving bones of the feet, Osteolysis involving bones of the lower limbs, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the distal phalanges of the toes, Osteolytic defects of the hand bones, Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes, Overtubulated long bones, Patent ductus arteriosus, Phenotypic abnormality, Polyhydramnios, Premature birth, Premature loss of teeth, Premature rupture of membranes, Prenatal movement abnormality, Progressive clavicular acroosteolysis, Prominent superficial blood vessels, Proptosis, Pseudoarthrosis, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Scoliosis, Short nail, Short phalanx of finger, Short umbilical cord, Skin erosion, Sparse hair, Submucous cleft hard palate, Thickened skin, Ureteral duplication, Vascular skin abnormality.