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Leukoencephalopathy-spondylometaphyseal dysplasia syndrome

Disease definition

A disorder that has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.

ORPHA:83629

Classification level: Disorder
  • Synonym(s):
    • H-SMD
    • Hypomyelination-spondylometaphyseal dysplasia syndrome
    • Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: G11.4
  • OMIM: 300232  300660
  • UMLS: C1970840
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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