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Rare non-syndromic intellectual disability

Disease definition

Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.

ORPHA:101685

Classification level: Disorder
  • Synonym(s):
    • Rare NSID
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: F70  F71  F72  F73
  • OMIM: -
  • UMLS: C4751233
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

General public

  • Article for general public
  • Español (2022) - Asociación Nacional de Personas con Epilepsia-ANPE

Guidelines

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.