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X-linked intellectual disability-hypotonia-movement disorder syndrome

Disease definition

A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: F78.8
  • ICD-11: LD90
  • OMIM: 300958
  • UMLS: C5681121
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Disease review articles

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.