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Spastic paraparesis-deafness syndrome

Disease definition

A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.

ORPHA:2815

Classification level: Disorder
  • Synonym(s):
    • Spastic paraparesis-hearing loss syndrome
    • Wells-Jankovic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 312910
  • UMLS: C2931291
  • MeSH: -
  • GARD: 5555
  • MedDRA: -
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