| Monarch Ortholog Phenotypes
|
Human (42 sources):
Abnormal facial shape,
Absent speech,
Aggressive behavior,
Anteverted nares,
Autism,
Brachycephaly,
Brisk reflexes,
CNS hypomyelination,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral hypomyelination,
Delayed speech and language development,
Flat occiput,
Gait ataxia,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Happy demeanor,
Hyperactivity,
Hypointensity of cerebral white matter on MRI,
Hypotonia,
Inability to walk,
Inappropriate laughter,
Intellectual disability,
Long philtrum,
Low-set ears,
Microcephaly,
Myoclonus,
Nystagmus,
Opisthotonus,
Poor eye contact,
Prominent metopic ridge,
Seizure,
Self-mutilation,
Severe global developmental delay,
Short nose,
Skeletal muscle atrophy,
Smooth philtrum,
Spasticity,
Strabismus,
Thin upper lip vermilion,
Wide mouth
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|
|
Mouse (5 sources):
abnormal forebrain development,
abnormal midbrain development,
abnormal retina vasculature morphology,
embryonic lethality prior to organogenesis,
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.