| Monarch Ortholog Phenotypes
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Human (45 sources):
Abnormal vertebral morphology,
Blue sclerae,
Brisk reflexes,
Cryptorchidism,
Delayed myelination,
Delayed puberty,
Delayed skeletal maturation,
Down-sloping shoulders,
Downslanted palpebral fissures,
Downturned corners of mouth,
Dysarthria,
Epicanthus,
Fine hair,
Full cheeks,
Gait ataxia,
Growth delay,
Hearing impairment,
High pitched voice,
Hyperlordosis,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hypotelorism,
Hypothyroidism,
Increased vertebral height,
Intellectual disability,
Intellectual disability, severe,
Intrauterine growth retardation,
Kinetic tremor,
Kyphoscoliosis,
Macrotia,
Microcephaly,
Micrognathia,
Narrow mouth,
Oligodontia,
Pectus excavatum,
Prominent superficial veins,
Recurrent hypoglycemia,
Renal hypoplasia,
Seizure,
Sensorineural hearing impairment,
Short stature,
Small for gestational age,
Sparse hair,
Spasticity,
Truncal ataxia
[+]
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Mouse (9 sources):
abnormal suckling behavior,
decreased birth body size,
decreased erythrocyte cell number,
decreased hematocrit,
decreased hemoglobin content,
decreased mean corpuscular hemoglobin concentration,
decreased mean corpuscular volume,
echinocytosis,
neonatal lethality, complete penetrance
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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.