Apnea, Asthma, Blotching pigmentation of the skin, Bowing of the long bones, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Decreased corneal reflex, Dysphagia, Ectopic thyroid, Elbow flexion contracture, Enlarged joints, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture, Flexion contracture of finger, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Hypothyroidism, Hypotonia, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Limitation of joint mobility, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fever, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Sacral dimple, Scoliosis, Short long bone, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base

decreased body size, decreased bone volume, decreased fetal size, decreased locomotor activity, decreased motor neuron number, decreased red blood cell distribution width, decreased renal glomerulus number, ectopic ureter, embryonic lethality before implantation, incomplete penetrance, increased osteoclast cell number, neonatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, small kidney