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GTR Home > Conditions/Phenotypes > Sterol carrier protein 2 deficiency

Sterol carrier protein 2 deficiency

Synonyms
Leukoencephalopathy with dystonia and motor neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. [from ORDO]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX, SCP2
    Summary: sterol carrier protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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