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Intellectual disability-spasticity-ectrodactyly syndrome

Congenital Malformations and Chromosomal Abnormalities

Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder characterized by severe intellectual disability, hereditary spastic paraplegia and defects of the distal limbs such as syndactyly, ectrodactyly and clinodactyly. Only three families, in England and Israel, have been described in the medical literature.

Facts
Classification
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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2. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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3. Wikipedia: Intellectual disability-spasticity-ectrodactyly syndrome
Wikipedia
  • lead sentence 1
    Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly.
  • Lead section, transmission-route statement
    Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly.
View the Source
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