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Procedures: Orphanet inventory of genes related to rare diseases

To better describe rare intellectual disability disorders of genetic origin, Orphanet provides information on every gene related to a rare intellectual disability disorder. The gene-disease relationship is provided. The list of intellectual disability-related genes was curated in partnership with ERN-ITHACA and SysID.

This information includes the genetic international nomenclature, the gene typology (gene with protein product, locus, non-coding RNA), the chromosomal location, the cross-mappings with international genetic databases.

By default, all intellectual disability gene-disease relationships are displayed in the table above. You can filter results by gene symbol/name, disease name, ORPHACode or gene/disease MIM number (Online Mendelian Inheritance in Man) or select a predefined group (Rare non-syndromic intellectual disability, Rare genetic syndromic intellectual disability, Rare genetic syndromic intellectual disability with multiple congenital anomalies/dysmorphic syndrome or Rare genetic syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome).