| Monarch Ortholog Phenotypes
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Human (45 sources):
Abnormal adipose tissue morphology,
Abnormal cerebral white matter morphology,
Abnormal facial shape,
Abnormal isoelectric focusing of serum transferrin,
Abnormal skeletal morphology,
Abnormality of vision,
Absent speech,
Ataxia,
Axial hypotonia,
Bradykinesia,
Cerebral atrophy,
Cerebral white matter atrophy,
Decreased corneal reflex,
Delayed myelination,
Dry skin,
EEG with burst suppression,
Elevated circulating hepatic transaminase concentration,
Episodic vomiting,
Failure to thrive,
Feeding difficulties,
Global developmental delay,
Gray matter heterotopia,
Hearing impairment,
High forehead,
Hyperreflexia,
Infantile muscular hypotonia,
Intellectual disability,
Inverted nipples,
Limb hypertonia,
Long philtrum,
Microcephaly,
Neonatal hypotonia,
Opisthotonus,
Psychomotor retardation,
Retrognathia,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Spasticity,
Strabismus,
Temperature instability,
Type I transferrin isoform profile,
Vomiting,
Widened subarachnoid space,
obsolete Impaired social interactions
[+]
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Mouse (4 sources):
abnormal grip strength,
decreased grip strength,
embryonic lethality prior to organogenesis,
preweaning lethality, complete penetrance
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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.