Absent fingernail, Absent toenail, Ankle weakness, Cataract, Convex nasal ridge, Craniofacial hyperostosis, Crossed fused renal ectopia, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Cyanosis, Decreased miniature endplate potentials, Decreased size of nerve terminals, Delayed gross motor development, Diaphyseal undertubulation, Diplopia, Downslanted palpebral fissures, Drowsiness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, EMG: myopathic abnormalities, Easy fatigability, Ectropion, Elbow dislocation, Exertional dyspnea, Facial asymmetry, Facial palsy, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Finger syndactyly, Fingernail dysplasia, Foot oligodactyly, Frontal bossing, Hearing impairment, High palate, High, narrow palate, Hip dislocation, Hip flexor weakness, Hypertelorism, Hypodontia, Hypoplasia of the radius, Hypoplasia of the ulna, Hypothyroidism, Increased bone mineral density, Laryngomalacia, Macrocephaly, Malar flattening, Mandibular prognathia, Micrognathia, Micromelia, Muscle weakness, Nail dysplasia, Neck flexor weakness, Nystagmus, Oligodactyly, Ophthalmoparesis, Optic atrophy, Orthopnea, Prominent forehead, Proptosis, Protruding ear, Ptosis, Radioulnar synostosis, Reduced tendon reflexes, Reduced vital capacity, Renal agenesis, Renal hypoplasia, Renal hypoplasia/aplasia, Respiratory insufficiency, Restrictive ventilatory defect, Scoliosis, Sensorineural hearing impairment, Short finger, Short nose, Short philtrum, Short thumb, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Syndactyly, Synostosis of carpal bones, Synostosis of joints, Tall stature, Tetraparesis, Thoracic kyphoscoliosis, Toe syndactyly, Triceps weakness, Type 1 muscle fiber predominance, Upper limb muscle weakness, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles, obsolete Abnormality of the metacarpal bones

abnormal miniature endplate potential, abnormal molar cusp morphology, abnormal neuromuscular synapse morphology, abnormal nursing, abnormal osteocyte morphology, abnormal phrenic nerve morphology, abnormal postnatal growth, abnormal spine curvature, abnormal tail morphology, abnormal tooth development, abnormal ureteric bud invasion, abnormal ureteric bud morphology, abnormal vibrissa morphology, absent metanephric mesenchyme, craniofacial phenotype, decreased body size, decreased bone trabecular spacing, deformed nails, ectopic digits, failure of neuromuscular synapse postsynaptic differentiation, failure of neuromuscular synapse presynaptic differentiation, fused phalanges, hunched posture, impaired branching involved in ureteric bud morphogenesis, increased bone ossification, increased bone strength, increased bone trabecula number, increased diameter of femur, increased femur compact bone thickness, increased trabecular bone connectivity density, increased trabecular bone thickness, increased trabecular bone volume, muscle phenotype, neonatal lethality, complete penetrance, nervous system phenotype, no spontaneous movement, perinatal lethality, complete penetrance, polysyndactyly, postnatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reduced fertility, renal/urinary system phenotype, skeleton phenotype, small lung, supernumerary incisors, thick apical ectodermal ridge, thick neurocranium, ureter hypoplasia