Monarch Ortholog Phenotypes
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Human (44 sources):
Abnormal antitragus morphology,
Abnormal autonomic nervous system physiology,
Abnormal fingernail morphology,
Abnormality of movement,
Abnormality of the metacarpal bones,
Absent speech,
Agitation,
Aplasia/Hypoplasia of the cerebellum,
Apnea,
Bruxism,
Camptodactyly of finger,
Cerebral cortical atrophy,
Clinodactyly of the 5th finger,
Developmental regression,
Drooling,
Dystonia,
EEG abnormality,
Epileptic encephalopathy,
Fine hair,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Hearing impairment,
Hyperventilation,
Hypsarrhythmia,
Inability to walk,
Intellectual disability,
Long philtrum,
Macrocephaly,
Microcephaly,
Nephrolithiasis,
Poor head control,
Scoliosis,
Seizure,
Self-injurious behavior,
Short foot,
Sleep disturbance,
Small hand,
Spasticity,
Thick vermilion border,
Underdeveloped nasal alae,
Ventriculomegaly,
Wide mouth,
Wide nose
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Mouse (20 sources):
abnormal brain wave pattern,
abnormal depression-related behavior,
abnormal excitatory postsynaptic currents,
abnormal hippocampus CA1 region morphology,
abnormal hippocampus physiology,
abnormal inhibitory postsynaptic currents,
abnormal inhibitory postsynaptic potential,
abnormal long term spatial reference memory,
abnormal synapse morphology,
abnormal synaptic plasticity,
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View all ortholog results at Monarch
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