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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
Orphanet:363412: 
UMLS:C3809008: