| Monarch Ortholog Phenotypes
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Human (50 sources):
Abnormal muscle fiber morphology,
Abnormal palate morphology,
Adducted thumb,
Ankle flexion contracture,
Cachexia,
Camptodactyly of finger,
Decreased fetal movement,
Delayed ability to walk,
Diaphragmatic weakness,
Difficulty running,
Elbow flexion contracture,
Elevated circulating creatine kinase concentration,
EMG abnormality,
EMG: myopathic abnormalities,
Esotropia,
Flexion contracture,
Follicular hyperkeratosis,
Frequent falls,
Generalized amyotrophy,
Generalized hypotonia,
Generalized muscle weakness,
Hip dislocation,
Hypotonia,
Increased endomysial connective tissue,
Increased laxity of fingers,
Increased variability in muscle fiber diameter,
Joint stiffness,
Knee flexion contracture,
Kyphosis,
Long toe,
Micrognathia,
Motor delay,
Multiple joint contractures,
Muscle weakness,
Muscular dystrophy,
Myopathy,
Neonatal hypotonia,
obsolete Joint laxity,
Pes valgus,
Progressive proximal muscle weakness,
Proximal amyotrophy,
Respiratory insufficiency,
Scapular winging,
Scoliosis,
Short neck,
Slender finger,
Spinal rigidity,
Stooped posture,
Torticollis,
Wrist hypermobility
[+]
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Mouse (20 sources):
abnormal actin cytoskeleton morphology,
abnormal cartilage development,
abnormal osteoblast morphology,
abnormal osteoblast physiology,
abnormal quadriceps morphology,
abnormal sarcolemma morphology,
abnormal skeletal muscle morphology,
abnormal skeleton development,
abnormal skeleton physiology,
abnormal vertebral column morphology,
abnormal vertebral spinous process morphology,
decreased bone mineralization,
decreased bone ossification,
decreased bone strength,
decreased diameter of femur,
decreased grip strength,
decreased skeletal muscle weight,
limb grasping,
perinatal lethality, incomplete penetrance,
skeleton phenotype
[+]
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View all ortholog results at Monarch
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.