X-linked intellectual disability, Cantagrel type

What is X-linked intellectual disability, Cantagrel type?

X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Inheritance type

X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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