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Autosomal recessive non-syndromic…

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Autosomal recessive non-syndromic intellectual disability

ORPHA:88616Etiological subtype

Also called AR-NSID · NS-ARID

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Childhood, Infancy
Inheritance
Autosomal recessive
Classified as
Etiological subtype

Genes

ABCA2Disease-causing germline mutation(s)
AIMP1Disease-causing germline mutation(s) (loss of function)
ALKBH8Disease-causing germline mutation(s) (loss of function)
B3GALNT2Disease-causing germline mutation(s)
CC2D1ADisease-causing germline mutation(s)
CEP104Disease-causing germline mutation(s)
CHKADisease-causing germline mutation(s)
CLIP1Disease-causing germline mutation(s) (loss of function)
CRADDDisease-causing germline mutation(s)
CRBNDisease-causing germline mutation(s)
DCPSDisease-causing germline mutation(s)
EDC3Disease-causing germline mutation(s)
EEF1B2Disease-causing germline mutation(s)
EZRDisease-causing germline mutation(s) (loss of function)
FBXO31Disease-causing germline mutation(s) (loss of function)
FERRY3Disease-causing germline mutation(s)
FMN2Disease-causing germline mutation(s)
FRRS1LDisease-causing germline mutation(s)
GEMIN5Disease-causing germline mutation(s) (loss of function)
GRIA1Disease-causing germline mutation(s)
GRIK2Disease-causing germline mutation(s) (loss of function)
GRIN1Disease-causing germline mutation(s)
GRM7Disease-causing germline mutation(s)
HNMTDisease-causing germline mutation(s)
IMPA1Disease-causing germline mutation(s) (loss of function)
IQSEC1Disease-causing germline mutation(s)
KDM5BDisease-causing germline mutation(s)
LINS1Disease-causing germline mutation(s)
LMAN2LDisease-causing germline mutation(s)
MAN1B1Disease-causing germline mutation(s)
MBOAT7Disease-causing germline mutation(s) (loss of function)
MED23Disease-causing germline mutation(s)
MED25Disease-causing germline mutation(s)
METTL23Disease-causing germline mutation(s)
NAA20Disease-causing germline mutation(s) (loss of function)
NCDNDisease-causing germline mutation(s)
NDST1Disease-causing germline mutation(s)
NEMFDisease-causing germline mutation(s)
NSUN2Disease-causing germline mutation(s)
PGAP1Disease-causing germline mutation(s) (loss of function)
PIGCDisease-causing germline mutation(s)
PRSS12Disease-causing germline mutation(s)
RSRC1Disease-causing germline mutation(s)
SARS1Disease-causing germline mutation(s)
SLC45A1Disease-causing germline mutation(s)
TECRDisease-causing germline mutation(s)
TNIKDisease-causing germline mutation(s) (loss of function)
TPRDisease-causing germline mutation(s)
TRAPPC9Disease-causing germline mutation(s) (loss of function)
TTC5Disease-causing germline mutation(s) (loss of function)
TUSC3Disease-causing germline mutation(s)
UBE4ADisease-causing germline mutation(s) (loss of function)
WASHC4Disease-causing germline mutation(s)
ZC3H14Disease-causing germline mutation(s)

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

Developmental Disabilities

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

Cross-references

MONDO 0019502OMIM 249500OMIM 607417OMIM 608443OMIM 611091OMIM 611092OMIM 611093OMIM 611095OMIM 611096OMIM 611097OMIM 611107OMIM 613192OMIM 614020OMIM 614208OMIM 614249OMIM 614329OMIM 614333OMIM 614340OMIM 614341OMIM 614342OMIM 614343OMIM 614344OMIM 614345OMIM 614346OMIM 614347OMIM 614499OMIM 615802OMIM 615817OMIM 615942OMIM 615979OMIM 616116OMIM 616193OMIM 616460OMIM 616739OMIM 616887OMIM 617028OMIM 617125OMIM 617188OMIM 617323OMIM 617532OMIM 617709OMIM 617816OMIM 617820OMIM 617863OMIM 618109OMIM 618221OMIM 618402OMIM 618504OMIM 618687OMIM 618808OMIM 619333OMIM 619373OMIM 619639OMIM 619717OMIM 619931OMIM 619988OMIM 620023OMIM 620393UMLS C5680181

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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