| Monarch Ortholog Phenotypes
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Human (49 sources):
4-5 toe syndactyly,
Abnormal dental enamel morphology,
Abnormal earlobe morphology,
Absent earlobe,
Absent fourth finger distal interphalangeal crease,
Aggressive behavior,
Cachexia,
Cerebellar hypoplasia,
Clinodactyly of the 5th finger,
Cognitive impairment,
Cone-shaped epiphysis,
Convex nasal ridge,
Craniosynostosis,
Delayed skeletal maturation,
Downslanted palpebral fissures,
Ectopic kidney,
Few cafe-au-lait spots,
Glaucoma,
Global developmental delay,
Growth delay,
Hallux valgus,
Heart murmur,
High pitched voice,
Hip dysplasia,
Hypospadias,
Intellectual disability,
Intrauterine growth retardation,
Microcephaly,
Microdontia,
Microglossia,
Micrognathia,
Microphthalmia,
Mild global developmental delay,
Narrow face,
Narrow forehead,
Prematurely aged appearance,
Primary microcephaly,
Prominent nose,
Retrognathia,
Sandal gap,
Scoliosis,
Short middle phalanx of the 5th finger,
Short stature,
Single interphalangeal crease of fifth finger,
Small for gestational age,
Sparse scalp hair,
Thoracic scoliosis,
Tooth agenesis,
obsolete Joint hyperflexibility
[+]
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Mouse (8 sources):
absent egg cylinders,
cellular phenotype,
embryonic growth arrest,
embryonic lethality before implantation, complete penetrance,
failure of blastocyst to hatch from the zona pellucida,
immune system phenotype,
increased lymphoma incidence,
premature death
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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.