Rare non-syndromic intellectual disability

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Rare non-syndromic intellectual disability

ORPHA:101685Disease

Also called Rare NSID

What it is

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.

Key facts

Age of onset
Childhood, Infancy
Inheritance
Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
Classified as
Disease

Genes reported in subtypes

ABCA2ACSL4AGTR2AIMP1ALG13ALKBH8ARF3ARHGEF6ARXASH1LB3GALNT2BRSK2CACNA1ICACNG2CAMK2ACAMK2BCASKCC2D1ACDH15CEP104CHKACICCLCN4CLIP1CLTCCNKSR2CRADDCRBNCSNK2BCTNND2CUX1DCPSDLG3DLL1DMDDOCK8DPYSL2DYNC1H1EDC3EEF1B2EPB41L1ERBB4EZRFBXO31FERRY3FMN2FRMPD4FRRS1LFTSJ1GABBR1GDI1GEMIN5GRIA1GRIK2GRIN1GRM7HCFC1HIVEP2HNMTIL1RAPL1IMPA1IQSEC1ITSN1KCNQ2KCNQ5KDM5BKIRREL3LINS1LMAN2LMAN1B1MBD5MBOAT7MECP2MED12MED23MED25METTL23MID2NAA20NBEANCDNNDST1NEMFNSUN2PGAP1PIGCPRICKLE2PRSS12PTCHD1RAB11ARAB39BRPS6KA3RSRC1SARS1SCN2ASCN8ASEMA6BSETSETD1BSLC45A1SLC6A1SLC9A7STEEP1SYPTAOK1TCF4TECRTNIKTPRTRAPPC9TRPM3TSPAN7TTC5TUSC3UBE4AUPF3BUSP27XUSP9XWASHC4YWHAZZC3H14ZNF711ZNF81

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

F70ICD-10 uses a narrower term — shared with 3 other rare diseases
F71ICD-10 uses a narrower term — shared with 3 other rare diseases
F72ICD-10 uses a narrower term — shared with 4 other rare diseases
F73ICD-10 uses a narrower term — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 19783MONDO 0015108UMLS C4751233

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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