Abnormality of the wrist, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/hypoplasia of the humerus, Aplastic clavicle, Arterial stenosis, Atypical scarring of skin, Avascular necrosis of the capital femoral epiphysis, Behavioral abnormality, Bladder carcinoma, Bladder diverticulum, Bowing of the long bones, Brachycephaly, Brachydactyly, Broad clavicles, Broad ribs, Bruising susceptibility, Capitate-hamate fusion, Carotid artery tortuosity, Cerebral calcification, Cholestasis, Chondrocalcinosis, Chorea, Chronic diarrhea, Coarse hair, Convex nasal ridge, Coxa valga, Coxa vara, Cutis laxa, Delayed cranial suture closure, Developmental regression, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, Dry skin, Dysphagia, EMG: neuropathic changes, Exostoses, Fatigue, Feeding difficulties in infancy, Femoral hernia, Full cheeks, Gastroesophageal reflux, Gastrointestinal hemorrhage, Gastroparesis, Generalized hypotonia, Genu valgum, Global developmental delay, Hepatitis, Hernia, Hiatus hernia, High forehead, High palate, High, narrow palate, Hip dislocation, Hip dysplasia, Humerus varus, Hydronephrosis, Hyperextensible skin, Hypoglycemia, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Hypothermia, Hypotonia, Intellectual disability, Intracranial hemorrhage, Intrauterine growth retardation, Jaundice, Keloids, Kyphosis, Large fontanelles, Large iliac wing, Limited elbow extension, Limited knee extension, Long face, Long neck, Long philtrum, Malabsorption, Mask-like facies, Metaphyseal spurs, Metaphyseal widening, Microcephaly, Micrognathia, Muscle weakness, Narrow chest, Narrow face, Nausea and vomiting, Orthostatic hypotension, Osteolysis, Osteomalacia, Osteomyelitis, Osteopenia, Osteoporosis, Pectus carinatum, Pectus excavatum, Pelvic bone exostoses, Persistent open anterior fontanelle, Pes cavus, Pes planus, Platyspondyly, Poor suck, Prolonged neonatal jaundice, Prominent occiput, Recurrent fractures, Recurrent urinary tract infections, Redundant skin, Rickets, Rudimentary to absent tibiae, Scarring, Scoliosis, Seizure, Sepsis, Short clavicles, Short humerus, Short palm, Short stature, Soft skin, Sparse hair, Spasticity, Specific learning disability, Spinal muscular atrophy, Spontaneous hematomas, Synostosis of joints, Tarsal synostosis, Thick hair, Thickened skin, Umbilical hernia, Unsteady gait, Ureteral obstruction, Vascular dilatation, Venous insufficiency, Woolly hair, Wormian bones, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal frontonasal prominence morphology, abnormal gonadal fat pad morphology, abnormal hair shaft melanin granule morphology, abnormal hindlimb morphology, abnormal liver copper level, abnormal mitochondrial physiology, abnormal motor capabilities/coordination/movement, abnormal neuromuscular synapse morphology, abnormal noradrenaline level, abnormal pH regulation, abnormal pectoral girdle bone morphology, abnormal postnatal growth, abnormal pulmonary alveolus morphology, abnormal pulmonary interalveolar septum morphology, abnormal renal tubule morphology, abnormal skin condition, abnormal survival, abnormal tail bud morphology, abnormal vibrissa morphology, abnormal visceral yolk sac morphology, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, abnormal vocalization, abnormal zigzag hair morphology, absent coat pigmentation, absent vibrissae, behavior/neurological phenotype, calcified tendon, curly vibrissae, decreased aorta elastin content, decreased body size, decreased brain copper level, decreased brainstem copper level, decreased circulating ceruloplasmin level, decreased circulating copper level, decreased creatine kinase activity, decreased creatine level, decreased embryo size, decreased grip strength, decreased kidney weight, decreased litter size, decreased liver copper level, decreased locomotor activity, decreased noradrenaline level, decreased renal glomerulus number, decreased skeletal muscle mass, decreased skin tensile strength, decreased spleen weight, decreased susceptibility to prion infection, dilated pulmonary alveolar duct, dilated respiratory conducting tube, diluted coat color, embryonic lethality during organogenesis, complete penetrance, enlarged lung, hindlimb paralysis, hindlimb paresis, homeostasis/metabolism phenotype, hunched posture, impaired balance, impaired limb coordination, increased aortic weight, increased brain apoptosis, increased intestine copper level, increased kidney copper level, increased lung compliance, increased neuron apoptosis, increased skeletal muscle fiber diameter, increased total lung capacity, integument phenotype, irregular coat pigmentation, kinked vibrissae, lethality throughout fetal growth and development, lethality throughout fetal growth and development, incomplete penetrance, limb grasping, mosaic coat color, mottled coat, muscular atrophy, nervous system phenotype, oxidative stress, pale yolk sac, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, pigmentation phenotype, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reproductive system phenotype, tonic seizures, variegated coat color, wavy vibrissae