Monarch Ortholog Phenotypes
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Human (50 sources):
Abnormal periventricular white matter morphology,
Abnormality of peripheral nerve conduction,
Abnormality of retinal pigmentation,
Anteverted nares,
Ataxia,
Broad hallux,
Broad hallux phalanx,
Broad thumb,
CNS demyelination,
Cataract,
Cerebellar atrophy,
Cerebral atrophy,
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,
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
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Mouse (18 sources):
CNS inflammation,
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,
decreased Purkinje cell number,
decreased body size,
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View all ortholog results at Monarch
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