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hypomyelination with brain stem and spinal cord involvement and leg spasticity
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord.
Mondo Term and Equivalent IDs
MONDO:0014115: hypomyelination with brain stem and spinal cord involvement and leg spasticity
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615281
Orphanet:363412
UMLS:C3809008
MONDO:0014115
High level summary of knowledge for a disease, including descriptions and datasource references.