| Monarch Ortholog Phenotypes
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Human (15 sources):
Absent speech,
Ankle flexion contracture,
Areflexia,
Cerebral visual impairment,
Demyelinating peripheral neuropathy,
Distal amyotrophy,
Facial palsy,
Feeding difficulties,
Generalized amyotrophy,
Global developmental delay,
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Mouse (23 sources):
abnormal auditory brainstem response waveform shape,
abnormal auditory cortex morphology,
abnormal axon morphology,
abnormal mating frequency,
abnormal muscle contractility,
abnormal sciatic nerve morphology,
absent linear vestibular evoked potential,
axonal dystrophy,
deafness,
decreased body size,
eye inflammation,
head bobbing,
hindlimb paralysis,
impaired balance,
increased or absent threshold for auditory brainstem response,
increased vertical activity,
limb grasping,
muscle phenotype,
paresis,
premature death,
reduced linear vestibular evoked potential,
reproductive system phenotype,
vision/eye phenotype
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.