| Monarch Ortholog Phenotypes
|
Human (38 sources):
Abnormality of movement,
Ataxia,
Axial hypotonia,
Bilateral tonic-clonic seizure,
Cerebellar hypoplasia,
Cerebral atrophy,
Fasciculations,
Feeding difficulties,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Generalized-onset seizure,
Global developmental delay,
Hernia,
Hiatus hernia,
Hip dislocation,
Hyperreflexia,
Hypoplasia of the pons,
Hypotonia,
Hypouricemia,
Increased urinary taurine,
Intellectual disability,
Joint dislocation,
Joint stiffness,
Miscarriage,
Molybdenum cofactor deficiency,
Muscle stiffness,
Myoclonus,
Opisthotonus,
Polymicrogyria,
Poor eye contact,
Poor head control,
Rigidity,
Seizure,
Sleep disturbance,
Spasticity,
Sulfite oxidase deficiency,
Umbilical hernia
[+]
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|
Mouse (10 sources):
abnormal axon extension,
abnormal neuromuscular synapse morphology,
abnormal retina inner plexiform layer morphology,
abnormal suckling behavior,
abnormal vocalization,
decreased motor neuron number,
hyperresponsive,
increased motor neuron number,
neonatal lethality, complete penetrance,
no abnormal phenotype detected
|
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.