Orphanet: Non specific syndromic intellectual disability

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Non-specific syndromic intellectual disability

Disease definition

A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.

ORPHA:528084

Classification level: Disorder

Synonym(s):
- Complex neurodevelopmental disorder
Prevalence: Unknown
Inheritance: X-linked recessive or Autosomal recessive or Autosomal dominant
Age of onset: Infancy, Childhood
ICD-10: F84.8
OMIM: 301029 309590 606053 617755 618009 618292 618342 618430 618470 618569 618653 618659 618906 618914 618922 618971 618974 619000 619005 619031 619056 619072 619076 619083 619091 619092 619099 619125 619149 619157 619239 619243 619244 619264 619268 619306 619314 619320 620065 620098
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Detailed information

Disease review articles

Clinical genetics review
English (2022) - GeneReviews

Genetic Testing

Guidance for genetic testing
Français (2016, pdf) - ANPGM

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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Non-specific syndromic intellectual disability

ORPHA:528084

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

Disease review articles

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services