| Monarch Ortholog Phenotypes
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Human (29 sources):
Agenesis of corpus callosum,
Atrial septal defect,
Camptodactyly,
Clinodactyly,
Curly hair,
Delayed ability to walk,
Delayed speech and language development,
Epicanthus,
Feeding difficulties,
Generalized hypotonia,
Global developmental delay,
Hypertelorism,
Hypoplasia of the corpus callosum,
Intellectual disability,
Joint hypermobility,
Low-set ears,
Microcephaly,
Narrow mouth,
Posteriorly rotated ears,
Ptosis,
Seizure,
Short palpebral fissure,
Short philtrum,
Small cerebral cortex,
Strabismus,
Thin upper lip vermilion,
Upslanted palpebral fissure,
Ventricular septal defect,
Wide nasal bridge
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Mouse (24 sources):
abnormal blood flow velocity,
abnormal heart layer morphology,
abnormal kidney development,
abnormal liver development,
abnormal myocardium layer morphology,
abnormal nasal gland morphology,
abnormal palate development,
abnormal secondary palate development,
decreased brain size,
decreased embryo size,
delayed brain development,
delayed kidney development,
embryonic growth retardation,
embryonic lethality prior to tooth bud stage,
increased startle reflex,
lethality throughout fetal growth and development, complete penetrance,
nuchal edema,
preweaning lethality, complete penetrance,
small heart,
small kidney,
small liver,
small lung,
thin myocardium,
thin ventricular wall
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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.