Non-specific syndromic intellectual…

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Non-specific syndromic intellectual disability

ORPHA:528084Disease

Also called Complex neurodevelopmental disorder

What it is

A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.

Key facts

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

Genes

ACTL6ADisease-causing germline mutation(s) (loss of function)
ACTL6BDisease-causing germline mutation(s)
ADGRL1Disease-causing germline mutation(s)
AGO1Disease-causing germline mutation(s)
AGO2Disease-causing germline mutation(s) (loss of function)
AP1G1Disease-causing germline mutation(s)
ATP2B1Disease-causing germline mutation(s)
ATP6V0A1Disease-causing germline mutation(s)
ATP9ADisease-causing germline mutation(s)
BAP1Disease-causing germline mutation(s)
BCORL1Disease-causing germline mutation(s)
BRWD3Disease-causing germline mutation(s)
CACNA1CDisease-causing germline mutation(s)
CAPRIN1Disease-causing germline mutation(s) (loss of function)
CCDC32Disease-causing germline mutation(s)
CDK8Disease-causing germline mutation(s)
CERT1Disease-causing germline mutation(s)
CHD5Disease-causing germline mutation(s) (loss of function)
CLCN3Disease-causing germline mutation(s)
CNOT1Disease-causing germline mutation(s)
CNOT3Disease-causing germline mutation(s)
CPSF3Disease-causing germline mutation(s)
CSNK2A1Disease-causing germline mutation(s)
CTR9Disease-causing germline mutation(s)
DDX6Disease-causing germline mutation(s)
DLG4Disease-causing germline mutation(s)
DOCK3Disease-causing germline mutation(s) (loss of function)
DOHHDisease-causing germline mutation(s)
DPYSL5Disease-causing germline mutation(s) (loss of function)
EEF1A2Disease-causing germline mutation(s)
EIF4A2Disease-causing germline mutation(s) (loss of function)
EIF5ADisease-causing germline mutation(s) (loss of function)
EMC10Disease-causing germline mutation(s)
FAM50ADisease-causing germline mutation(s)
FBXO11Disease-causing germline mutation(s)
FBXW11Disease-causing germline mutation(s)
FBXW7Disease-causing germline mutation(s)
GNB2Disease-causing germline mutation(s)
GRIA4Disease-causing germline mutation(s)
GRIK2Disease-causing germline mutation(s) (loss of function)
HNRNPCDisease-causing germline mutation(s)
HS2ST1Disease-causing germline mutation(s)
HTTDisease-causing germline mutation(s)
HUWE1Disease-causing germline mutation(s)
JARID2Disease-causing germline mutation(s)
KAT8Disease-causing germline mutation(s)
KDM2BDisease-causing germline mutation(s)
KDM4BDisease-causing germline mutation(s)
KDM6BDisease-causing germline mutation(s) (loss of function)
KMT2BDisease-causing germline mutation(s)
KMT2EDisease-causing germline mutation(s)
LMBRD2Disease-causing germline mutation(s)
MADDDisease-causing germline mutation(s)
MAN2C1Disease-causing germline mutation(s)
MAPK8IP3Disease-causing germline mutation(s)
MARK2Disease-causing germline mutation(s)
MED12LDisease-causing germline mutation(s)
MED13Disease-causing germline mutation(s)
MSL2Disease-causing germline mutation(s)
MTSS2Disease-causing germline mutation(s)
MYCBP2Disease-causing germline mutation(s) (loss of function)
NAA15Disease-causing germline mutation(s) (loss of function)
NCKAP1Disease-causing germline mutation(s)
NOVA2Disease-causing germline mutation(s)
NRCAMDisease-causing germline mutation(s)
NTNG1Disease-causing germline mutation(s)
NTNG2Disease-causing germline mutation(s)
OTUD5Disease-causing germline mutation(s)
PAK3Disease-causing germline mutation(s) (loss of function)
PALS1Disease-causing germline mutation(s)
PCDHGC4Disease-causing germline mutation(s)
PGM2L1Disease-causing germline mutation(s)
PLXNA1Disease-causing germline mutation(s)
PRPF8Disease-causing germline mutation(s) (loss of function)
PSMD12Disease-causing germline mutation(s)
PTPN23Disease-causing germline mutation(s)
PUS7Disease-causing germline mutation(s)
RAC3Disease-causing germline mutation(s)
RALADisease-causing germline mutation(s)
RLIMDisease-causing germline mutation(s)
RNF2Disease-causing germline mutation(s)
RORADisease-causing germline mutation(s)
SCAF4Disease-causing germline mutation(s) (loss of function)
SETD1ADisease-causing germline mutation(s)
SETD5Disease-causing germline mutation(s)
SIAH1Disease-causing germline mutation(s)
SPTBN1Disease-causing germline mutation(s)
SRCAPDisease-causing germline mutation(s)
SVBPDisease-causing germline mutation(s) (loss of function)
SYNCRIPDisease-causing germline mutation(s)
TAF4Disease-causing germline mutation(s) (loss of function)
TANC2Disease-causing germline mutation(s)
TBR1Disease-causing germline mutation(s)
TCF20Disease-causing germline mutation(s)
TCF7L2Disease-causing germline mutation(s)
TIAM1Disease-causing germline mutation(s) (loss of function)
TMEM222Disease-causing germline mutation(s)
TNRC6BDisease-causing germline mutation(s)
TRAPPC4Disease-causing germline mutation(s)
TRIP12Disease-causing germline mutation(s)
TRMT1Disease-causing germline mutation(s)
UBR7Disease-causing germline mutation(s)
UPF1Disease-causing germline mutation(s)
WARS1Disease-causing germline mutation(s)
WASF1Disease-causing germline mutation(s)
WDFY3Disease-causing germline mutation(s) (loss of function)
XPO1Disease-causing germline mutation(s)
ZMIZ1Disease-causing germline mutation(s)
ZMYM2Disease-causing germline mutation(s) (loss of function)
ZNF142Disease-causing germline mutation(s)
ZNF292Disease-causing germline mutation(s)
ZNF526Disease-causing germline mutation(s)
ZNF699Disease-causing germline mutation(s)

ICD-10 codes

F84.8filed under a broader ICD-10 category — shared with 4 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.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 100038OMIM 300558OMIM 300659OMIM 300978OMIM 301029OMIM 309590OMIM 606053OMIM 615761OMIM 616083OMIM 616351OMIM 616393OMIM 617435OMIM 617516OMIM 617787OMIM 617864OMIM 618009OMIM 618060OMIM 618089OMIM 618292OMIM 618302OMIM 618342OMIM 618425OMIM 618430OMIM 618443OMIM 618470OMIM 618505OMIM 618512OMIM 618569OMIM 618653OMIM 618659OMIM 618672OMIM 618707OMIM 618718OMIM 618741OMIM 618748OMIM 618793OMIM 618859OMIM 618872OMIM 618890OMIM 618906OMIM 618914OMIM 618922OMIM 618971OMIM 618974OMIM 619000OMIM 619004OMIM 619005OMIM 619031OMIM 619033OMIM 619056OMIM 619072OMIM 619076OMIM 619083OMIM 619091OMIM 619092OMIM 619099OMIM 619149OMIM 619157OMIM 619188OMIM 619189OMIM 619194OMIM 619243OMIM 619244OMIM 619264OMIM 619268OMIM 619306OMIM 619311OMIM 619314OMIM 619320OMIM 619376OMIM 619460OMIM 619467OMIM 619470OMIM 619475OMIM 619488OMIM 619503OMIM 619522OMIM 619548OMIM 619580OMIM 619595OMIM 619694OMIM 619762OMIM 619775OMIM 619833OMIM 619873OMIM 619876OMIM 619877OMIM 619880OMIM 619908OMIM 619910OMIM 619934OMIM 619955OMIM 619971OMIM 620012OMIM 620029OMIM 620065OMIM 620066OMIM 620086OMIM 620098OMIM 620191OMIM 620242OMIM 620292OMIM 620317OMIM 620450OMIM 620455OMIM 620511OMIM 620688OMIM 620782OMIM 621285UMLS C5568766

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.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.