| Monarch Ortholog Phenotypes
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Human (39 sources):
2-3 toe syndactyly,
Attention deficit hyperactivity disorder,
Autistic behavior,
Babinski sign,
Bilateral tonic-clonic seizure,
Broad nasal tip,
Clinodactyly of the 2nd toe,
Delayed eruption of teeth,
Delayed speech and language development,
Depressed nasal bridge,
Downslanted palpebral fissures,
Drooling,
Facial palsy,
Generalized hypotonia,
Generalized non-motor (absence) seizure,
Global developmental delay,
Intellectual disability,
Intellectual disability, moderate,
Intellectual disability, profound,
Intellectual disability, severe,
Long palpebral fissure,
Long philtrum,
Macrocephaly,
Meckel diverticulum,
Midface retrusion,
Mild neurosensory hearing impairment,
Moderate sensorineural hearing impairment,
Obesity,
Periorbital fullness,
Pes planus,
Poor speech,
Pyloric stenosis,
Seizure,
Shortening of all distal phalanges of the fingers,
Small for gestational age,
Thick lower lip vermilion,
Thin upper lip vermilion,
Urinary incontinence,
Widened subarachnoid space
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Mouse (14 sources):
abnormal cued conditioning behavior,
abnormal excitatory postsynaptic currents,
abnormal excitatory postsynaptic potential,
abnormal hippocampal mossy fiber morphology,
abnormal hippocampus CA3 region morphology,
abnormal spatial working memory,
abnormal synaptic glutamate release,
abnormal synaptic vesicle number,
decreased aggression towards mice,
decreased synaptic glutamate release,
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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.