| Monarch Ortholog Phenotypes
|
Human (58 sources):
Abnormal metabolic brain imaging by MRS,
Agenesis of corpus callosum,
Aggressive behavior,
Anteverted nares,
Apnea,
Arthrogryposis multiplex congenita,
Axial hypotonia,
Breathing dysregulation,
Clonus,
Depressed nasal bridge,
Dolichocephaly,
Dysphagia,
EEG abnormality,
EEG with burst suppression,
Elbow flexion contracture,
Encephalopathy,
Exaggerated startle response,
Fetal distress,
Flexion contracture,
Generalized hypotonia,
Generalized myoclonic seizure,
Genu recurvatum,
Global developmental delay,
Hand clenching,
Hip contracture,
Hip dislocation,
Hyperactivity,
Hyperglycinemia,
Hyperglycinuria,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Impulsivity,
Intellectual disability,
Irritability,
Joint laxity,
Lethargy,
Long eyelashes,
Low-set ears,
Microcephaly,
Myoclonus,
Myopathic facies,
Optic atrophy,
Overlapping toe,
Poor suck,
Ptosis,
Recurrent singultus,
Respiratory acidosis,
Respiratory insufficiency,
Restlessness,
Retrognathia,
Seizure,
Spasticity,
Talipes equinovarus,
Trigonocephaly,
Ventriculomegaly,
obsolete Central hypotonia
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Mouse (15 sources):
abnormal blood homeostasis,
abnormal embryonic neuroepithelium morphology,
abnormal folic acid level,
abnormal vertebral arch morphology,
absent mandible,
decreased heart weight,
decreased survivor rate,
domed cranium,
embryonic growth retardation,
enlarged cranium,
[+]
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View all ortholog results at Monarch
|
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.