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Intellectual disability-spasticity-ectrodactyly syndrome

Disease definition

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).

ORPHA:1891

  • Synonym(s):
    • Jancar syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: -
  • OMIM: 246555
  • UMLS: C0796001
  • MeSH: -
  • GARD: 3523
  • MedDRA: -

Additional information

Specialised Social Services

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