Monarch Ortholog Phenotypes
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Human (71 sources):
Abnormal brainstem MRI signal intensity,
Abnormal cortical gyration,
Abnormality of metabolism/homeostasis,
Abnormality of refraction,
Abnormality of the temporomandibular joint,
Abnormality of visual evoked potentials,
Absent muscle fiber merosin,
Areflexia,
Arrhythmia,
Aspiration,
Astrocytosis,
Atelectasis,
Bradykinesia,
Calf muscle hypertrophy,
Cardiomyopathy,
Cerebral edema,
Cognitive impairment,
Decreased body weight,
Difficulty climbing stairs,
Dysphagia,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Facial palsy,
Feeding difficulties in infancy,
Flexion contracture,
Focal-onset seizure,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Generalized non-motor (absence) seizure,
Gowers sign,
Highly elevated creatine kinase,
Hyperlordosis,
Hypermetropia,
Hypointensity of cerebral white matter on MRI,
Hypotonia,
Hypoventilation,
Impaired mastication,
Inability to walk,
Increased connective tissue,
Increased endomysial connective tissue,
Intellectual disability,
Intercostal muscle weakness,
Kyphoscoliosis,
Lissencephaly,
Macroglossia,
Motor delay,
Muscle fiber atrophy,
Muscle spasm,
Muscle weakness,
Muscular dystrophy,
Myopathic facies,
Myopia,
Myositis,
Neonatal hypotonia,
Open mouth,
Ophthalmoplegia,
Pachygyria,
Pontocerebellar atrophy,
Protruding tongue,
Pulmonary arterial hypertension,
Recurrent lower respiratory tract infections,
Reduced ejection fraction,
Reduced tendon reflexes,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Scoliosis,
Seizure,
Sensorimotor neuropathy,
Weak cry,
obsolete Congenital muscular dystrophy
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Mouse (54 sources):
abnormal Schwann cell morphology,
abnormal axon radial sorting,
abnormal axonal transport,
abnormal basal lamina morphology,
abnormal basement membrane morphology,
abnormal bony labyrinth,
abnormal cochlear hair cell morphology,
abnormal cochlear nerve morphology,
abnormal cranium morphology,
abnormal galactolipid level,
abnormal lipid level,
abnormal motor capabilities/coordination/movement,
abnormal muscle regeneration,
abnormal organ of Corti morphology,
abnormal organ of Corti supporting cell morphology,
abnormal sarcolemma morphology,
abnormal seminiferous tubule morphology,
abnormal sexual interaction,
abnormal skeletal muscle morphology,
abnormal skeletal muscle regeneration,
abnormal spermatid morphology,
abnormal thymus corticomedullary boundary morphology,
abnormal thymus physiology,
absent cochlear hair cells,
absent vestibular hair cells,
decreased aggression,
decreased body size,
decreased brain weight,
decreased double-positive T cell number,
decreased locomotor activity,
decreased skeletal muscle fiber number,
decreased spinal cord weight,
decreased testis weight,
enhanced long term potentiation,
hindlimb paralysis,
hindlimb paresis,
increased cholesterol level,
increased circulating prolactin level,
increased or absent threshold for auditory brainstem response,
increased variability of skeletal muscle fiber size,
joint contracture,
limb grasping,
muscle degeneration,
paresis,
perinatal lethality, incomplete penetrance,
postnatal lethality, incomplete penetrance,
premature death,
reduced long term depression,
reproductive system phenotype,
skeletal muscle endomysial fibrosis,
skeletal muscle fiber necrosis,
skeletal muscle interstitial fibrosis,
stria vascularis degeneration,
thymus cortex hypoplasia
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View all ortholog results at Monarch
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