Search for a rare disease
Other search option(s)
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: -
- 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: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Clinical practice guidelines
- Deutsch (2015)
- Guidance for genetic testing
- Français (2016, pdf)
- Clinical genetics review
- English (2018)
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.