Monarch Ortholog Phenotypes
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Human (49 sources):
Absent muscle fiber emerin,
Achilles tendon contracture,
Arrhythmia,
Atrioventricular block,
Back pain,
Cardiomyopathy,
Decreased cervical spine flexion due to contractures of posterior cervical muscles,
Dilated cardiomyopathy,
EMG: myopathic abnormalities,
Elbow flexion contracture,
Elevated circulating creatine kinase concentration,
Gait disturbance,
Hyperlordosis,
Hypertriglyceridemia,
Hypertrophic cardiomyopathy,
Hypotonia,
Ichthyosis,
Increased LDL cholesterol concentration,
Joint stiffness,
Kyphosis,
Limb-girdle muscular dystrophy,
Lipodystrophy,
Muscular dystrophy,
Myopathy,
Myotonia,
Obesity,
Pectus excavatum,
Proximal amyotrophy,
Proximal lower limb amyotrophy,
Proximal muscle weakness,
Proximal muscle weakness in lower limbs,
Proximal muscle weakness in upper limbs,
Proximal upper limb amyotrophy,
Ptosis,
Reduced tendon reflexes,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Rimmed vacuoles,
Scapular winging,
Scoliosis,
Spinal rigidity,
Sprengel anomaly,
Sudden cardiac death,
Supraventricular arrhythmia,
Type 1 muscle fiber atrophy,
Ventricular escape rhythm,
Vocal cord paralysis,
Waddling gait,
obsolete Toe walking
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Mouse (23 sources):
abnormal Muller cell morphology,
abnormal cell nucleus morphology,
abnormal cone electrophysiology,
abnormal keratinocyte morphology,
abnormal neuromuscular synapse morphology,
abnormal retina bipolar cell morphology,
abnormal retina blood vessel morphology,
abnormal retina horizontal cell morphology,
abnormal retina outer plexiform layer morphology,
abnormal retina photoreceptor layer morphology,
abnormal rod electrophysiology,
abnormal synapse morphology,
decreased fibroblast cell migration,
decreased retina cone cell number,
decreased retina inner nuclear layer thickness,
decreased total retina thickness,
increased retina apoptosis,
muscle phenotype,
short photoreceptor inner segment,
short photoreceptor outer segment,
thin retina outer nuclear layer,
thin retina outer plexiform layer,
vision/eye phenotype
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View all ortholog results at Monarch
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