| Monarch Ortholog Phenotypes
|
Human (49 sources):
Absent speech,
Anteverted nares,
Appendicular hypotonia,
Brachycephaly,
Broad forehead,
Bulbous nose,
Cachexia,
Cerebral atrophy,
Constipation,
Downslanted palpebral fissures,
Dyskinesia,
Epicanthus,
Esotropia,
Facial hypotonia,
Failure to thrive in infancy,
Feeding difficulties,
Frontal bossing,
Generalized hypotonia,
Global brain atrophy,
High forehead,
Hip contracture,
Hypoplasia of the corpus callosum,
Inability to walk,
Intellectual disability, profound,
Intrauterine growth retardation,
Low-set ears,
Microcephaly,
Nystagmus,
Open mouth,
Osteopenia,
Plagiocephaly,
Poor speech,
Posteriorly rotated ears,
Profound global developmental delay,
Profound static encephalopathy,
Prominent forehead,
Prominent nasal bridge,
Prominent nose,
Ptosis,
Scoliosis,
Seizure,
Severe global developmental delay,
Short neck,
Short philtrum,
Smooth philtrum,
Spasticity,
Tapered finger,
Thin upper lip vermilion,
Triangular face
[+]
|
|
Mouse (5 sources):
abnormal channel response,
decreased body length,
enlarged lymph nodes,
neonatal lethality, complete penetrance,
preweaning lethality, complete penetrance
|
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.