| Monarch Ortholog Phenotypes
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Human (25 sources):
Agenesis of corpus callosum,
Anteverted nares,
Broad face,
Broad forehead,
Chiari type I malformation,
Cognitive impairment,
Cutis marmorata,
Generalized hypotonia,
Global developmental delay,
Hydronephrosis,
Hypoplasia of the corpus callosum,
Hypotonia,
Intellectual disability,
Low-set ears,
Macrocephaly,
Myopia,
Narrow mouth,
Renal hypoplasia,
Seizure,
Short chin,
Short nose,
Syringomyelia,
Thin upper lip vermilion,
Ventriculomegaly,
Vesicoureteral reflux
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Mouse (18 sources):
abnormal axon extension,
abnormal cerebellar foliation,
abnormal cerebellar granule cell morphology,
abnormal cerebellar molecular layer,
abnormal glial cell morphology,
abnormal hippocampal commissure morphology,
abnormal kidney morphology,
abnormal ureter development,
abnormal ureterovesical junction morphology,
decreased body size,
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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.