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X-linked non-syndromic intellectual…

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X-linked non-syndromic intellectual disability

ORPHA:777Etiological 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
X-linked recessive
Classified as
Etiological subtype

Genes

ACSL4Disease-causing germline mutation(s)
AGTR2Disease-causing germline mutation(s)
ALG13Disease-causing germline mutation(s)
ARHGEF6Disease-causing germline mutation(s)
ARXDisease-causing germline mutation(s)
CASKDisease-causing germline mutation(s)
CLCN4Disease-causing germline mutation(s)
CNKSR2Disease-causing germline mutation(s)
DLG3Disease-causing germline mutation(s)
DMDDisease-causing germline mutation(s)
FRMPD4Disease-causing germline mutation(s)
FTSJ1Disease-causing germline mutation(s) (loss of function)
GDI1Disease-causing germline mutation(s)
HCFC1Disease-causing germline mutation(s)
IL1RAPL1Disease-causing germline mutation(s)
MECP2Disease-causing germline mutation(s)
MID2Disease-causing germline mutation(s)
RAB39BDisease-causing germline mutation(s) (loss of function)
RPS6KA3Disease-causing germline mutation(s)
SLC9A7Disease-causing germline mutation(s)
STEEP1Disease-causing germline mutation(s)
SYPDisease-causing germline mutation(s)
TSPAN7Disease-causing germline mutation(s)
UPF3BDisease-causing germline mutation(s)
USP27XDisease-causing germline mutation(s)
USP9XDisease-causing germline mutation(s) (loss of function)
ZNF711Disease-causing germline mutation(s)
ZNF81Disease-causing germline mutation(s)
MED12Candidate gene tested
PTCHD1Candidate 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

MONDO 0019181OMIM 300046OMIM 300047OMIM 300062OMIM 300115OMIM 300143OMIM 300210OMIM 300271OMIM 300324OMIM 300355OMIM 300372OMIM 300387OMIM 300419OMIM 300428OMIM 300433OMIM 300436OMIM 300454OMIM 300498OMIM 300505OMIM 300518OMIM 300676OMIM 300705OMIM 300716OMIM 300802OMIM 300803OMIM 300844OMIM 300848OMIM 300849OMIM 300850OMIM 300851OMIM 300852OMIM 300919OMIM 300928OMIM 300983OMIM 300984OMIM 301008OMIM 301013OMIM 301024OMIM 309549UMLS C3501611

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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