| Monarch Ortholog Phenotypes
|
Human (29 sources):
Abnormal CNS myelination,
Absent speech,
Babinski sign,
Bilateral tonic-clonic seizure,
Broad-based gait,
Delayed speech and language development,
Difficulty walking,
Drooling,
Dysarthria,
Encephalopathy,
Failure to thrive,
Febrile seizure (within the age range of 3 months to 6 years),
Generalized hypotonia,
Global developmental delay,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypotelorism,
Intellectual disability,
Low-set ears,
Microcephaly,
Narrow forehead,
Nasogastric tube feeding in infancy,
Secondary microcephaly,
Seizure,
Severe muscular hypotonia,
Spastic paraplegia,
Spasticity,
Strabismus,
Tremor
[+]
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|
Mouse (10 sources):
abnormal amino acid level,
abnormal brain development,
abnormal cerebral cortex morphology,
abnormal cerebral hemisphere morphology,
abnormal hippocampus neuron morphology,
abnormal synapse morphology,
abnormal tail movements,
decreased brain size,
decreased locomotor activity,
premature death
|
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.