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Autosomal dominant non-syndromic…

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Autosomal dominant non-syndromic intellectual disability

ORPHA:178469Etiological subtype

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 dominant
Classified as
Etiological subtype

Genes

ARF3Disease-causing germline mutation(s)
ASH1LDisease-causing germline mutation(s)
BRSK2Disease-causing germline mutation(s) (loss of function)
CACNA1IDisease-causing germline mutation(s)
CACNG2Disease-causing germline mutation(s)
CAMK2ADisease-causing germline mutation(s)
CAMK2BDisease-causing germline mutation(s)
CDH15Disease-causing germline mutation(s)
CICDisease-causing germline mutation(s) (loss of function)
CLTCDisease-causing germline mutation(s)
CSNK2BDisease-causing germline mutation(s) (loss of function)
CTNND2Disease-causing germline mutation(s)
CUX1Disease-causing germline mutation(s)
DLL1Disease-causing germline mutation(s)
DOCK8Disease-causing germline mutation(s)
DPYSL2Disease-causing germline mutation(s)
DYNC1H1Disease-causing germline mutation(s)
EPB41L1Disease-causing germline mutation(s)
ERBB4Disease-causing germline mutation(s)
GABBR1Disease-causing germline mutation(s)
GRIA1Disease-causing germline mutation(s)
GRIN1Disease-causing germline mutation(s)
HIVEP2Disease-causing germline mutation(s) (loss of function)
ITSN1Disease-causing germline mutation(s)
KCNQ2Disease-causing germline mutation(s)
KCNQ5Disease-causing germline mutation(s)
KIRREL3Disease-causing germline mutation(s)
MBD5Disease-causing germline mutation(s)
NBEADisease-causing germline mutation(s)
PRICKLE2Disease-causing germline mutation(s)
RAB11ADisease-causing germline mutation(s)
SCN2ADisease-causing germline mutation(s)
SCN8ADisease-causing germline mutation(s)
SEMA6BDisease-causing germline mutation(s)
SETDisease-causing germline mutation(s)
SETD1BDisease-causing germline mutation(s)
SLC6A1Disease-causing germline mutation(s)
TAOK1Disease-causing germline mutation(s) (loss of function)
TCF4Disease-causing germline mutation(s)
TRPM3Disease-causing germline mutation(s)
YWHAZDisease-causing germline mutation(s)
KDM5BCandidate gene tested

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

GARD 12107MONDO 0015802OMIM 156200OMIM 612082OMIM 612580OMIM 612581OMIM 614113OMIM 614254OMIM 614256OMIM 614257OMIM 614563OMIM 616579OMIM 616977OMIM 617600OMIM 617601OMIM 617796OMIM 617798OMIM 617799OMIM 617854OMIM 618095OMIM 618106OMIM 618330OMIM 618709OMIM 619188OMIM 619575OMIM 619927OMIM 620114OMIM 620224OMIM 620502UMLS C5680502

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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