ORPHA:528084

Non-specific syndromic intellectual disability

Synonyms: Complex neurodevelopmental disorder

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Childhood, Infancy
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Non-specific syndromic intellectual disability	Complex neurodevelopmental disorder
fr	Déficience intellectuelle syndromique non spécifique
de	Unspezifische syndromale Intelligenzminderung	Komplexe neurologische Entwicklungsstörung
es	Discapacidad intelectual sindrómica sin especificar	Trastorno del neurodesarrollo complejo
it	Disabilità intellettiva sindromica aspecifica	Patologia complessa del neurosviluppo
nl	Niet-specifieke syndromale intellectuele achterstand	Complexe neurologische ontwikkelingsstoornis
pt	Perturbação do desenvolvimento intelectual sindromática não-específica
pl	Nieswoisty zespół niepełnosprawności intelektualnej	Złożona choroba neurorozwojowa
cs	Nespecifická syndromická mentální retardace	Komplexní neurovývojová porucha
uk	Неспецифічна синдромальна інтелектуальна недостатність	Комплексний розлад нейророзвитку
zh	非特异性综合征性智力障碍	复杂性神经发育障碍
tr	Spesifik olmayan sendromik zihinsel yetersizlik	Karmaşık nörogelişimsel bozukluk

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	300558	BTNT		validated
OMIM	300659	BTNT		validated
OMIM	300978	BTNT		validated
OMIM	301029	BTNT		validated
OMIM	309590	BTNT		validated
OMIM	606053	BTNT		validated
OMIM	615761	BTNT		validated
OMIM	616083	BTNT		validated
OMIM	616351	BTNT		validated
OMIM	616393	BTNT		validated
OMIM	617435	BTNT		validated
OMIM	617516	BTNT		validated
OMIM	617787	BTNT		validated
OMIM	617864	BTNT		validated
OMIM	618009	BTNT		validated
OMIM	618060	BTNT		validated
OMIM	618089	BTNT		validated
OMIM	618292	BTNT		validated
OMIM	618302	BTNT		validated
OMIM	618342	BTNT		validated
OMIM	618425	BTNT		validated
OMIM	618430	BTNT		validated
OMIM	618443	BTNT		validated
OMIM	618470	BTNT		validated
OMIM	618505	BTNT		validated
OMIM	618512	BTNT		validated
OMIM	618569	BTNT		validated
OMIM	618653	BTNT		validated
OMIM	618659	BTNT		validated
OMIM	618672	BTNT		validated
OMIM	618707	BTNT		validated
OMIM	618718	BTNT		validated
OMIM	618741	BTNT		validated
OMIM	618748	BTNT		validated
OMIM	618793	BTNT		validated
OMIM	618859	BTNT		validated
OMIM	618872	BTNT		validated
OMIM	618890	BTNT		validated
OMIM	618906	BTNT		validated
OMIM	618914	BTNT		validated
OMIM	618922	BTNT		validated
OMIM	618971	BTNT		validated
OMIM	618974	BTNT		validated
OMIM	619000	BTNT		validated
OMIM	619004	BTNT		validated
OMIM	619005	BTNT		validated
OMIM	619031	BTNT		validated
OMIM	619033	BTNT		validated
OMIM	619056	BTNT		validated
OMIM	619072	BTNT		validated
OMIM	619076	BTNT		validated
OMIM	619083	BTNT		validated
OMIM	619091	BTNT		validated
OMIM	619092	BTNT		validated
OMIM	619099	BTNT		validated
OMIM	619149	BTNT		validated
OMIM	619157	BTNT		validated
OMIM	619188	BTNT		validated
OMIM	619189	BTNT		validated
OMIM	619194	BTNT		validated
OMIM	619243	BTNT		validated
OMIM	619244	BTNT		validated
OMIM	619264	BTNT		validated
OMIM	619268	BTNT		validated
OMIM	619306	BTNT		validated
OMIM	619311	BTNT		validated
OMIM	619314	BTNT		validated
OMIM	619320	BTNT		validated
OMIM	619376	BTNT		validated
OMIM	619460	BTNT		validated
OMIM	619467	BTNT		validated
OMIM	619470	BTNT		validated
OMIM	619475	BTNT		validated
OMIM	619488	BTNT		validated
OMIM	619503	BTNT		validated
OMIM	619522	BTNT		validated
OMIM	619548	BTNT		validated
OMIM	619580	BTNT		validated
OMIM	619595	BTNT		validated
OMIM	619694	BTNT		validated
OMIM	619762	BTNT		validated
OMIM	619775	BTNT		validated
OMIM	619833	BTNT		validated
OMIM	619873	BTNT		validated
OMIM	619876	BTNT		validated
OMIM	619877	BTNT		validated
OMIM	619880	BTNT		validated
OMIM	619908	BTNT		validated
OMIM	619910	BTNT		validated
OMIM	619934	BTNT		validated
OMIM	619955	BTNT		validated
OMIM	619971	BTNT		validated
OMIM	620012	BTNT		validated
OMIM	620029	BTNT		validated
OMIM	620065	BTNT		validated
OMIM	620066	BTNT		validated
OMIM	620086	BTNT		validated
OMIM	620098	BTNT		validated
OMIM	620191	BTNT		validated
OMIM	620242	BTNT		validated
OMIM	620292	BTNT		validated
OMIM	620317	BTNT		validated
OMIM	620450	BTNT		validated
OMIM	620455	BTNT		validated
OMIM	620511	BTNT		validated
OMIM	620688	BTNT		validated
OMIM	620782	BTNT		validated
OMIM	621285	BTNT		validated
ICD-10	F84.8	NTBT	attributed	not yet validated
MONDO	100038	E		validated
UMLS	C5568766	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:183757Rare genetic intellectual disability
rare genetic diseases
ORPHA:87277Rare intellectual disability
rare neurological diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:3056X-linked intellectual disability, Brooks type moved to · inactive
ORPHA:85328X-linked intellectual disability, Turner type moved to · inactive
ORPHA:93972Juberg-Marsidi syndrome moved to · inactive
ORPHA:93975OBSOLETE: Renier-Gabreels-Jasper syndrome referred to · inactive
ORPHA:404440OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency referred to · inactive

Genes

113 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ACTL6A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24124	ENSG00000136518	604958	3q26.33	actin like 6A	29728705[PMID]
AGO2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3263	ENSG00000123908	606229	8q24.3	argonaute 2, RISC catalytic component	33199684[PMID]
CAPRIN1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6743	ENSG00000135387	601178	11p13	cell cycle associated protein 1	35979925[PMID]
CHD5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16816	ENSG00000116254	610771	1p36.31	chromodomain helicase DNA binding protein 5	33944996[PMID]
DOCK3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2989	ENSG00000088538	603123	3p21.2	dedicator of cytokinesis 3	30976111[PMID]
DPYSL5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:20637	ENSG00000157851	608383	2p23.3	dihydropyrimidinase like 5	33894126[PMID]
EIF4A2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3284	ENSG00000156976	601102	3q27.3	eukaryotic translation initiation factor 4A2	36528028[PMID]
EIF5A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3300	ENSG00000132507	600187	17p13.1	eukaryotic translation initiation factor 5A	33547280[PMID]
GRIK2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4580	ENSG00000164418	138244	6q16.3	glutamate ionotropic receptor kainate type subunit 2	34375587[PMID]
KDM6B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29012	ENSG00000132510	611577	17p13.1	lysine demethylase 6B	37196654[PMID]
MYCBP2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:23386	ENSG00000005810	610392	13q22.3	MYC binding protein 2	36200388[PMID]
NAA15	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30782	ENSG00000164134	608000	4q31.1	N-alpha-acetyltransferase 15, NatA auxiliary subunit	29656860[PMID]
PAK3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8592	ENSG00000077264	300142	Xq23	p21 (RAC1) activated kinase 3	18523455[PMID]
PRPF8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:17340	ENSG00000174231	607300	17p13.3	pre-mRNA processing factor 8	35543142[PMID]
SCAF4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19304	ENSG00000156304	616023	21q22.11	SR-related CTD associated factor 4	32730804[PMID]
SVBP	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:29204	ENSG00000177868	617853	1p34.2	small vasohibin binding protein	30607023[PMID]
TAF4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11537	ENSG00000130699	601796	20q13.33	TATA-box binding protein associated factor 4	35904126[PMID]
TIAM1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:11805	ENSG00000156299	600687	21q22.11	TIAM Rac1 associated GEF 1	35240055[PMID]
WDFY3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:20751	ENSG00000163625	617485	4q21.23	WD repeat and FYVE domain containing 3	31327001[PMID]
ZMYM2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12989	ENSG00000121741	602221	13q12.11	zinc finger MYM-type containing 2	32891193[PMID]
ACTL6B	Disease-causing germline mutation(s) in	Assessed	HGNC:160	ENSG00000077080	612458	7q22.1	actin like 6B	31031012[PMID]
ADGRL1	Disease-causing germline mutation(s) in	Assessed	HGNC:20973	ENSG00000072071	616416	19p13.12	adhesion G protein-coupled receptor L1	35907405[PMID]
AGO1	Disease-causing germline mutation(s) in	Assessed	HGNC:3262	ENSG00000092847	606228	1p34.3	argonaute RISC component 1	34930816[PMID]
AP1G1	Disease-causing germline mutation(s) in	Assessed	HGNC:555	ENSG00000166747	603533	16q22.2	adaptor related protein complex 1 subunit gamma 1	34102099[PMID]
ATP2B1	Disease-causing germline mutation(s) in	Assessed	HGNC:814	ENSG00000070961	108731	12q21.33	ATPase plasma membrane Ca2+ transporting 1	35358416[PMID]
ATP6V0A1	Disease-causing germline mutation(s) in	Assessed	HGNC:865	ENSG00000033627	192130	17q21.2	ATPase H+ transporting V0 subunit a1	33833240[PMID]
ATP9A	Disease-causing germline mutation(s) in	Assessed	HGNC:13540	ENSG00000054793	609126	20q13.2	ATPase phospholipid transporting 9A	34379057[PMID]
BAP1	Disease-causing germline mutation(s) in	Assessed	HGNC:950	ENSG00000163930	603089	3p21.1	BRCA1 associated deubiquitinase 1	35051358[PMID]
BCORL1	Disease-causing germline mutation(s) in	Assessed	HGNC:25657	ENSG00000085185	300688	Xq26.1	BCL6 corepressor like 1	30941876[PMID]
BRWD3	Disease-causing germline mutation(s) in	Assessed	HGNC:17342	ENSG00000165288	300553	Xq21.1	bromodomain and WD repeat domain containing 3	36414205[PMID]
CACNA1C	Disease-causing germline mutation(s) in	Assessed	HGNC:1390	ENSG00000151067	114205	12p13.33	calcium voltage-gated channel subunit alpha1 C	30513141[PMID]
CCDC32	Disease-causing germline mutation(s) in	Assessed	HGNC:28295	ENSG00000128891	618941	15q15.1	coiled-coil domain containing 32	32307552[PMID]
CDK8	Disease-causing germline mutation(s) in	Assessed	HGNC:1779	ENSG00000132964	603184	13q12.13	cyclin dependent kinase 8	30905399[PMID]
CERT1	Disease-causing germline mutation(s) in	Assessed	HGNC:2205	ENSG00000113163	604677	5q13.3	ceramide transporter 1	36976648[PMID]
CLCN3	Disease-causing germline mutation(s) in	Assessed	HGNC:2021	ENSG00000109572	600580	4q33	Cl-/H+ antiporter 3	34186028[PMID]
CNOT1	Disease-causing germline mutation(s) in	Assessed	HGNC:7877	ENSG00000125107	604917	16q21	CCR4-NOT transcription complex subunit 1	32553196[PMID]
CNOT3	Disease-causing germline mutation(s) in	Assessed	HGNC:7879	ENSG00000088038	604910	19q13.42	CCR4-NOT transcription complex subunit 3	31201375[PMID]
CPSF3	Disease-causing germline mutation(s) in	Assessed	HGNC:2326	ENSG00000119203	606029	2p25.1	cleavage and polyadenylation specific factor 3	35121750[PMID]
CSNK2A1	Disease-causing germline mutation(s) in	Assessed	HGNC:2457	ENSG00000101266	115440	20p13	casein kinase 2 alpha 1	27048600[PMID]
CTR9	Disease-causing germline mutation(s) in	Assessed	HGNC:16850	ENSG00000198730	609366	11p15.4	CTR9 component of Paf1/RNA polymerase II complex	35499524[PMID]_35717577[PMID]
DDX6	Disease-causing germline mutation(s) in	Assessed	HGNC:2747	ENSG00000110367	600326	11q23.3	DEAD-box helicase 6	31422817[PMID]
DLG4	Disease-causing germline mutation(s) in	Assessed	HGNC:2903	ENSG00000132535	602887	17p13.1	discs large MAGUK scaffold protein 4	33597769[PMID]
DOHH	Disease-causing germline mutation(s) in	Assessed	HGNC:28662	ENSG00000129932	611262	19p13.3	deoxyhypusine hydroxylase	35858628[PMID]
EEF1A2	Disease-causing germline mutation(s) in	Assessed	HGNC:3192	ENSG00000101210	602959	20q13.33	eukaryotic translation elongation factor 1 alpha 2	24697219[PMID]
EMC10	Disease-causing germline mutation(s) in	Assessed	HGNC:27609	ENSG00000161671	614545	19q13.33	ER membrane protein complex subunit 10	33531666[PMID]
FAM50A	Disease-causing germline mutation(s) in	Assessed	HGNC:18786	ENSG00000071859	300453	Xq28	family with sequence similarity 50 member A	32703943[PMID]
FBXO11	Disease-causing germline mutation(s) in	Assessed	HGNC:13590	ENSG00000138081	607871	2p16.3	F-box protein 11	30679813[PMID]
FBXW11	Disease-causing germline mutation(s) in	Assessed	HGNC:13607	ENSG00000072803	605651	5q35.1	F-box and WD repeat domain containing 11	31402090[PMID]
FBXW7	Disease-causing germline mutation(s) in	Assessed	HGNC:16712	ENSG00000109670	606278	4q31.3	F-box and WD repeat domain containing 7	35395208[PMID]
GNB2	Disease-causing germline mutation(s) in	Assessed	HGNC:4398	ENSG00000172354	139390	7q22.1	G protein subunit beta 2	34183358[PMID]
GRIA4	Disease-causing germline mutation(s) in	Assessed	HGNC:4574	ENSG00000152578	138246	11q22.3	glutamate ionotropic receptor AMPA type subunit 4	29220673[PMID]
HNRNPC	Disease-causing germline mutation(s) in	Assessed	HGNC:5035	ENSG00000092199	164020	14q11.2	heterogeneous nuclear ribonucleoprotein C	20385823[PMID]_30537371[PMID]
HS2ST1	Disease-causing germline mutation(s) in	Assessed	HGNC:5193	ENSG00000153936	604844	1p22.3	heparan sulfate 2-O-sulfotransferase 1	33159882[PMID]
HTT	Disease-causing germline mutation(s) in	Assessed	HGNC:4851	ENSG00000197386	613004	4p16.3	huntingtin	26740508[PMID]
HUWE1	Disease-causing germline mutation(s) in	Assessed	HGNC:30892	ENSG00000086758	300697	Xp11.22	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	29180823[PMID]
JARID2	Disease-causing germline mutation(s) in	Assessed	HGNC:6196	ENSG00000008083	601594	6p22.3	jumonji and AT-rich interaction domain containing 2	33077894[PMID]
KAT8	Disease-causing germline mutation(s) in	Assessed	HGNC:17933	ENSG00000103510	609912	16p11.2	lysine acetyltransferase 8	31794431[PMID]
KDM2B	Disease-causing germline mutation(s) in	Assessed	HGNC:13610	ENSG00000089094	609078	12q24.31	lysine demethylase 2B	36322151[PMID]
KDM4B	Disease-causing germline mutation(s) in	Assessed	HGNC:29136	ENSG00000127663	609765	19p13.3	lysine demethylase 4B	33232677[PMID]
KMT2B	Disease-causing germline mutation(s) in	Assessed	HGNC:15840	ENSG00000272333	606834	19q13.12	lysine methyltransferase 2B	33150406[PMID]
KMT2E	Disease-causing germline mutation(s) in	Assessed	HGNC:18541	ENSG00000005483	608444	7q22.3	lysine methyltransferase 2E (inactive)	31079897[PMID]
LMBRD2	Disease-causing germline mutation(s) in	Assessed	HGNC:25287	ENSG00000164187	619490	5p13.2	LMBR1 domain containing 2	32820033[PMID]
MADD	Disease-causing germline mutation(s) in	Assessed	HGNC:6766	ENSG00000110514	603584	11p11.2	MAP kinase activating death domain	32761064[PMID]
MAN2C1	Disease-causing germline mutation(s) in	Assessed	HGNC:6827	ENSG00000140400	154580	15q24.2	mannosidase alpha class 2C member 1	35045343[PMID]
MAPK8IP3	Disease-causing germline mutation(s) in	Assessed	HGNC:6884	ENSG00000138834	605431	16p13.3	mitogen-activated protein kinase 8 interacting protein 3	30612693[PMID]
MARK2	Disease-causing germline mutation(s) in	Assessed	HGNC:3332	ENSG00000072518	600526	11q13.1	microtubule affinity regulating kinase 2	39419027[PMID]
MED12L	Disease-causing germline mutation(s) in	Assessed	HGNC:16050	ENSG00000144893	611318	3q25.1	mediator complex subunit 12L	31155615[PMID]
MED13	Disease-causing germline mutation(s) in	Assessed	HGNC:22474	ENSG00000108510	603808	17q23.2	mediator complex subunit 13	29740699[PMID]
MSL2	Disease-causing germline mutation(s) in	Assessed	HGNC:25544	ENSG00000174579	614802	3q22.3	MSL complex subunit 2	38815585[PMID]
MTSS2	Disease-causing germline mutation(s) in	Assessed	HGNC:25094	ENSG00000132613	616951	16q22.1	MTSS I-BAR domain containing 2	36067766[PMID]_39890443[PMID]
NCKAP1	Disease-causing germline mutation(s) in	Assessed	HGNC:7666			2q32.1	NCK associated protein 1	33157009[PMID]
NOVA2	Disease-causing germline mutation(s) in	Assessed	HGNC:7887	ENSG00000104967	601991	19q13.32	NOVA alternative splicing regulator 2	32197073[PMID]
NRCAM	Disease-causing germline mutation(s) in	Assessed	HGNC:7994	ENSG00000091129	601581	7q31.1	neuronal cell adhesion molecule	35108495[PMID]
NTNG1	Disease-causing germline mutation(s) in	Assessed	HGNC:23319	ENSG00000162631	608818	1p13.3	netrin G1	31668703[PMID]
NTNG2	Disease-causing germline mutation(s) in	Assessed	HGNC:14288	ENSG00000196358	618689	9q34.13	netrin G2	31668703[PMID]
OTUD5	Disease-causing germline mutation(s) in	Assessed	HGNC:25402	ENSG00000068308	300713	Xp11.23	OTU deubiquitinase 5	33131077[PMID]
PALS1	Disease-causing germline mutation(s) in	Assessed	HGNC:18669	ENSG00000072415	606958	14q23.3	protein associated with LIN7 1, MAGUK p55 family member	33073849[PMID]
PCDHGC4	Disease-causing germline mutation(s) in	Assessed	HGNC:8717	ENSG00000242419	606305	5q31.3	protocadherin gamma subfamily C, 4	34244665[PMID]
PGM2L1	Disease-causing germline mutation(s) in	Assessed	HGNC:20898	ENSG00000165434	611610	11q13.4	phosphoglucomutase 2 like 1	33979636[PMID]
PLXNA1	Disease-causing germline mutation(s) in	Assessed	HGNC:9099	ENSG00000114554	601055	3q21.3	plexin A1	34054129[PMID]
PSMD12	Disease-causing germline mutation(s) in	Assessed	HGNC:9557	ENSG00000197170	604450	17q24.2	proteasome 26S subunit, non-ATPase 12	28132691[PMID]_30421579[PMID]
PTPN23	Disease-causing germline mutation(s) in	Assessed	HGNC:14406	ENSG00000076201	606584	3p21.31	protein tyrosine phosphatase non-receptor type 23	31395947[PMID]
PUS7	Disease-causing germline mutation(s) in	Assessed	HGNC:26033	ENSG00000091127	616261	7q22.3	pseudouridine synthase 7	30778726[PMID]
RAC3	Disease-causing germline mutation(s) in	Assessed	HGNC:9803	ENSG00000169750	602050	17q25.3	Rac family small GTPase 3	30293988[PMID]
RALA	Disease-causing germline mutation(s) in	Assessed	HGNC:9839	ENSG00000006451	179550	7p14.1	RAS like proto-oncogene A	30500825[PMID]
RLIM	Disease-causing germline mutation(s) in	Assessed	HGNC:13429	ENSG00000131263	300379	Xq13.2	ring finger protein, LIM domain interacting	25644381[PMID]_29728705[PMID]
RNF2	Disease-causing germline mutation(s) in	Assessed	HGNC:10061	ENSG00000121481	608985	1q25.3	ring finger protein 2	33864376[PMID]
RORA	Disease-causing germline mutation(s) in	Assessed	HGNC:10258	ENSG00000069667	600825	15q22.2	RAR related orphan receptor A	29656859[PMID]
SETD1A	Disease-causing germline mutation(s) in	Assessed	HGNC:29010	ENSG00000099381	611052	16p11.2	SET domain containing 1A, histone lysine methyltransferase	32346159[PMID]
SETD5	Disease-causing germline mutation(s) in	Assessed	HGNC:25566	ENSG00000168137	615743	3p25.3	SET domain containing 5	28881385[PMID]_39603091[PMID]
SIAH1	Disease-causing germline mutation(s) in	Assessed	HGNC:10857	ENSG00000196470	602212	16q12.1	siah E3 ubiquitin protein ligase 1	32430360[PMID]
SPTBN1	Disease-causing germline mutation(s) in	Assessed	HGNC:11275	ENSG00000115306	182790	2p16.2	spectrin beta, non-erythrocytic 1	34211179[PMID]
SRCAP	Disease-causing germline mutation(s) in	Assessed	HGNC:16974	ENSG00000080603	611421	16p11.2	Snf2 related CREBBP activator protein	33909990[PMID]
SYNCRIP	Disease-causing germline mutation(s) in	Assessed	HGNC:16918	ENSG00000135316	616686	6q14.3	synaptotagmin binding cytoplasmic RNA interacting protein	34157790[PMID]
TANC2	Disease-causing germline mutation(s) in	Assessed	HGNC:30212	ENSG00000170921	615047	17q23.2-q23.3	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	31616000[PMID]
TBR1	Disease-causing germline mutation(s) in	Assessed	HGNC:11590	ENSG00000136535	604616	2q24.2	T-box brain transcription factor 1	29288087[PMID]_30268909[PMID]
TCF20	Disease-causing germline mutation(s) in	Assessed	HGNC:11631	ENSG00000100207	603107	22q13.2	transcription factor 20	30909959[PMID]
TCF7L2	Disease-causing germline mutation(s) in	Assessed	HGNC:11641	ENSG00000148737	602228	10q25.2-q25.3	transcription factor 7 like 2	34003604[PMID]
TMEM222	Disease-causing germline mutation(s) in	Assessed	HGNC:25363	ENSG00000186501	619469	1p36.11	transmembrane protein 222	33824500[PMID]
TNRC6B	Disease-causing germline mutation(s) in	Assessed	HGNC:29190	ENSG00000100354	610740	22q13.1	trinucleotide repeat containing adaptor 6B	32152250[PMID]
TRAPPC4	Disease-causing germline mutation(s) in	Assessed	HGNC:19943	ENSG00000196655	610971	11q23.3	trafficking protein particle complex subunit 4	30690204[PMID]
TRIP12	Disease-causing germline mutation(s) in	Assessed	HGNC:12306	ENSG00000153827	604506	2q36.3	thyroid hormone receptor interactor 12	28251352[PMID]
TRMT1	Disease-causing germline mutation(s) in	Assessed	HGNC:25980	ENSG00000104907	611669	19p13.13	tRNA methyltransferase 1	30289604[PMID]
UBR7	Disease-causing germline mutation(s) in	Assessed	HGNC:20344	ENSG00000012963	613816	14q32.12	ubiquitin protein ligase E3 component n-recognin 7	33340455[PMID]
UPF1	Disease-causing germline mutation(s) in	Assessed	HGNC:9962	ENSG00000005007	601430	19p13.11	UPF1 RNA helicase and ATPase	39571789[PMID]
WARS1	Disease-causing germline mutation(s) in	Assessed	HGNC:12729	ENSG00000140105	191050	14q32.2	tryptophanyl-tRNA synthetase 1	35815345[PMID]
WASF1	Disease-causing germline mutation(s) in	Assessed	HGNC:12732	ENSG00000112290	605035	6q21	WASP family member 1	29961568[PMID]
XPO1	Disease-causing germline mutation(s) in	Assessed	HGNC:12825	ENSG00000082898	602559	2p15	exportin 1	40819229[PMID]
ZMIZ1	Disease-causing germline mutation(s) in	Assessed	HGNC:16493	ENSG00000108175	607159	10q22.3	zinc finger MIZ-type containing 1	30639322[PMID]
ZNF142	Disease-causing germline mutation(s) in	Assessed	HGNC:12927	ENSG00000115568	604083	2q35	zinc finger protein 142	35618198[PMID]_35616059[PMID]
ZNF292	Disease-causing germline mutation(s) in	Assessed	HGNC:18410	ENSG00000188994	616213	6q14.3	zinc finger protein 292	31723249[PMID]
ZNF526	Disease-causing germline mutation(s) in	Assessed	HGNC:29415	ENSG00000167625	614387	19q13.2	zinc finger protein 526	33397746[PMID]
ZNF699	Disease-causing germline mutation(s) in	Assessed	HGNC:24750	ENSG00000196110	609571	19p13.2	zinc finger protein 699	33875846[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/528084
This record as JSON: /data/d/528084.json