Human (99 sources):
2-3 finger syndactyly,
Abnormal cortical bone morphology,
Abnormal dental enamel morphology,
Abnormal dermatoglyphics,
Abnormal form of the vertebral bodies,
Abnormal rib morphology,
Abnormality of eye movement,
Abnormality of masticatory muscle,
Abnormality of the musculature of the upper limbs,
Abnormality of the nose,
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
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