Abnormality of male internal genitalia, Abnormality of the pharynx, Abnormality of the sense of smell, Abnormality of the uterus, Absence of secondary sex characteristics, Absent sternal ossification, Adrenal insufficiency, Ambiguous genitalia, Anterior tibial bowing, Apnea, Azoospermia, Bicornuate uterus, Bifid scrotum, Blepharophimosis, Bowing of the long bones, Cleft palate, Clitoral hypertrophy, Cor pulmonale, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased serum testosterone concentration, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Feeding difficulties in infancy, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotropic hypogonadism, Hypoplasia of olfactory tract, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Hypotonia, Increased circulating gonadotropin level, Kyphoscoliosis, Kyphosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Nephroblastoma, Nephrotic syndrome, Osteoporosis, Ovarian gonadoblastoma, Ovotestis, Pierre-Robin sequence, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Primary gonadal insufficiency, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Sex reversal, Short long bone, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimple, Small abnormally formed scapulae, Small face, Small scrotum, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Tall stature, Testicular dysgenesis, Testicular gonadoblastoma, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, Tracheomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Ventriculomegaly, Wide anterior fontanel

abnormal craniofacial development, abnormal craniofacial morphology, abnormal cranium morphology, abnormal dorsal root ganglion morphology, abnormal endochondral bone ossification, abnormal epiphyseal plate morphology, abnormal fetal atrioventricular canal morphology, abnormal forelimb morphology, abnormal forelimb stylopod morphology, abnormal forelimb zeugopod morphology, abnormal hair follicle bulge morphology, abnormal hair follicle matrix region morphology, abnormal hair follicle morphology, abnormal hair follicle outer root sheath morphology, abnormal humerus morphology, abnormal ilium morphology, abnormal ischium morphology, abnormal laryngeal cartilage morphology, abnormal limb bud morphology, abnormal limb development, abnormal limb morphology, abnormal lung epithelium morphology, abnormal male meiosis, abnormal mitral valve morphology, abnormal pancreas development, abnormal primary sex determination, abnormal primitive urogenital sinus morphology, abnormal pubis morphology, abnormal pulmonary alveolus epithelium morphology, abnormal rostral-caudal body axis extension, abnormal scapular spine morphology, abnormal seminiferous tubule morphology, abnormal skeleton development, abnormal sternebra morphology, abnormal sternum morphology, abnormal tail morphology, abnormal testis development, abnormal tracheal cartilage morphology, abnormal trunk neural crest cell morphology, abnormal ureter physiology, abnormal ureter smooth muscle morphology, abnormal vertebrae development, abnormal vertebral body morphology, abnormal xiphoid process morphology, absent Leydig cells, absent Meckel's cartilage, absent basisphenoid bone, absent cartilage, absent deltoid tuberosity, absent hyoid bone body, absent hyoid bone lesser horns, absent incus, absent nasal capsule, absent presphenoid bone, absent sternum, absent styloid process, absent testis cords, absent thyroid cartilage, bifurcated tongue, bowed fibula, cardiovascular system phenotype, chondrodystrophy, conotruncal ridge hypoplasia, decreased PP cell number, decreased body length, decreased body size, decreased cell migration, decreased cell proliferation, decreased cranium length, decreased glucagon secretion, decreased hair follicle number, decreased insulin secretion, decreased pancreatic alpha cell mass, decreased pancreatic beta cell mass, decreased pancreatic delta cell number, decreased percent body fat/body weight, delayed endochondral bone ossification, digestive/alimentary phenotype, dilated ureter, disproportionate dwarf, domed cranium, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to organogenesis, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, failure of Mullerian duct regression, hair follicle degeneration, hearing/vestibular/ear phenotype, homeostasis/metabolism phenotype, hunched posture, impaired cranial neural crest cell differentiation, impaired ureteric peristalsis, increased hair follicle apoptosis, increased trunk neural crest cell apoptosis, increased width of hypertrophic chondrocyte zone, lethality throughout fetal growth and development, incomplete penetrance, meteorism, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, pancreatic islet hyperplasia, pericardial edema, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature bone ossification, premature endochondral bone ossification, preweaning lethality, complete penetrance, primary sex reversal, renal/urinary system phenotype, reproductive system phenotype, respiratory system phenotype, short mandible, short maxilla, short radius, short tail, skeleton phenotype, small lung, small mandible, small pubis, small thoracic cage, thick interventricular septum, vision/eye phenotype