Monarch Ortholog Phenotypes
|
Human (50 sources):
Abnormality of peripheral nerve conduction,
Abnormality of retinal pigmentation,
Abnormal periventricular white matter morphology,
Anteverted nares,
Ataxia,
Broad hallux,
Broad hallux phalanx,
Broad thumb,
Cataract,
Cerebellar atrophy,
Cerebral atrophy,
CNS demyelination,
Coarse facial features,
Coarse hair,
Corneal opacity,
Depressed nasal bridge,
Developmental regression,
Dysostosis multiplex,
Flat face,
Global developmental delay,
Hearing impairment,
Hepatomegaly,
Hydrocephalus,
Ichthyosis,
Increased CSF protein concentration,
Intellectual disability,
Joint stiffness,
Large forehead,
Lower limb hyperreflexia,
Macrocephaly,
Microcephaly,
Myopia,
Neonatal hypotonia,
Optic atrophy,
Periorbital edema,
Peripheral demyelination,
Prominent forehead,
Rapid neurologic deterioration,
Retinal degeneration,
Seizure,
Sensorineural hearing impairment,
Short stature,
Smooth philtrum,
Spasticity,
Splenomegaly,
Thick eyebrow,
Urinary glycosaminoglycan excretion,
Ventriculomegaly,
Vertebral hypoplasia,
Visual impairment
[+]
|
Mouse (18 sources):
abnormal astrocyte morphology,
abnormal cerebellar cortex morphology,
abnormal craniofacial morphology,
abnormal long bone metaphysis morphology,
abnormal microglial cell morphology,
abnormal seminal vesicle morphology,
abnormal thoracic vertebrae morphology,
CNS inflammation,
decreased body size,
decreased cranium height,
[+]
|
View all ortholog results at Monarch
|