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GTR Home > Conditions/Phenotypes > Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Synonyms
ASPARTYL-tRNA SYNTHETASE DEFICIENCY; Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hypomyelination with brainstem and spinal cord involvement and leg spasticity is 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 (summary by Taft et al., 2013). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DARS, HBSL, aspRS, DARS1
    Summary: aspartyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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