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Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

Disease definition

A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.

ORPHA:3240

Classification level: Disorder
  • Synonym(s):
    • Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome
    • Yoshimura-Takeshita syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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