ORPHA:90636

Autosomal recessive non-syndromic genetic deafness

Synonyms: Autosomal recessive isolated neurosensory deafness · Autosomal recessive isolated neurosensory hearing loss · Autosomal recessive isolated sensorineural deafness · Autosomal recessive isolated sensorineural hearing loss · Autosomal recessive non-syndromic genetic hearing loss · Autosomal recessive non-syndromic neurosensory deafness · Autosomal recessive non-syndromic neurosensory hearing loss · Autosomal recessive non-syndromic sensorineural deafness · Autosomal recessive non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNB

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

This disease is described under Rare non-syndromic genetic deafness

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive non-syndromic genetic deafness	Autosomal recessive isolated neurosensory deafness · Autosomal recessive isolated neurosensory hearing loss · Autosomal recessive isolated sensorineural deafness · Autosomal recessive isolated sensorineural hearing loss · Autosomal recessive non-syndromic genetic hearing loss · Autosomal recessive non-syndromic neurosensory deafness · Autosomal recessive non-syndromic neurosensory hearing loss · Autosomal recessive non-syndromic sensorineural deafness · Autosomal recessive non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNB
fr	Surdité non syndromique autosomique récessive	Surdité de perception isolée autosomique récessive · Surdité de perception non syndromique autosomique récessive · Surdité neurosensorielle isolée autosomique récessive
de	Autosomal-rezessive nicht-syndromale Schwerhörigkeit	Autosomal-rezessive nicht-syndromale Schwerhörigkeit · Autosomal-rezessiver isolierter neurosensorischer Hörverlust · Autosomal-rezessive isolierte sensorineurale Taubheit · Hörverlust, isolierter neurosensorischer, autosomal-rezessiver · Autosomal-rezessive nicht-syndromale neurosensorische Taubheit · Autosomal-rezessive nicht-syndromale sensorineurale Schwerhörigkeit · Hörverlust, nicht-syndromaler, Typ DFNB
es	Sordera genética no sindrómica autosómica recesiva	Sordera neurosensorial aislada autosómica recesiva · Hipoacusia neurosensorial aislada autosómica recesiva · Hipoacusia genética no sindrómica autosómica recesiva · Sordera neurosensorial no sindrómica autosómica recesiva · Hipoacusia neurosensorial no sindrómica autosómica recesiva · DFNB genética no sindrómica
it	Sordità genetica non sindromica autosomica recessiva	Perdita dell'udito neurosensoriale non sindromica autosomica recessiva · DFNB genetica non sindromica · Perdita dell'udito neurosensoriale isolata autosomica recessiva · Sordità neurosensoriale isolata autosomica recessiva · Perdita dell'udito genetica non sindromica autosomica recessiva · Sordità neurosensoriale non sindromica autosomica recessiva
nl	Autosomaal recessieve niet-syndromale genetische doofheid	Autosomaal recessief geïsoleerd sensorineuraal gehoorverlies · Autosomaal recessief niet-syndromaal genetisch gehoorverlies · Autosomaal recessief niet-syndromaal sensorineuraal gehoorverlies · Autosomaal recessief niet-syndromaal perceptief gehoorverlies · Autosomaal recessieve niet-syndromale sensorineurale doofheid · Niet-syndromale genetische DFNB · Autosomaal recessieve geïsoleerde sensorineurale doofheid · Autosomaal recessief geïsoleerd perceptief gehoorverlies
pt	Surdez neurossensorial não-sindromática rara autossómica recessiva tipo DFNB	Perda auditiva neurossensorial isolada autossómica recessiva tipo DFNB · Perda auditiva neurossensorial não-sindromática autossómica recessiva tipo DFNB · Surdez neurossensorial isolada autossómica recessiva tipo DFNB · Surdez neurossensorial não-sindromática autossómica recessiva tipo DFNB
pl	Autosomalna recesywna niesyndromiczna głuchota czuciowo-nerwowa typu DFNB	Autosomalna recesywna izolowana głuchota czuciowo-nerwowa typu DFNB · Autosomalna recesywna izolowana głuchota nerwowo-czuciowa typu DFNB · Autosomalna recesywna niesyndromiczna głuchota nerwowo-czuciowa typu DFNB · Rzadka, autosomalna recesywna, niesyndromiczna głuchota czuciowo-nerwowa typu DFNB
cs	Autozomálně recesivní nesyndromová senzorineurální hluchota, typ DFNB	Autozomálně recesivní izolovaná senzorineurální hluchota, typ DFNB · Autozomálně recesivní nesyndromická senzorineurální hluchota, typ DFNB
uk	Рідкісна аутосомно-рецесивна несиндромальна сенсоневральна глухота, тип DFNB	Аутосомно-рецесивна ізольована нейросенсорна глухота типу DFNB · Аутосомно-рецесивна ізольована нейросенсорна приглухуватість типу DFNB · Аутосомно-рецесивна ізольована сенсоневральна глухота типу DFNB · Аутосомно-рецесивна ізольована сенсоневральна приглухуватість типу DFNB · Аутосомно-рецесивна несиндромальна нейросенсорна глухота типу DFNB · Аутосомно-рецесивна несиндромальна нейросенсорна приглухуватість типу DFNB · Аутосомно-рецесивна несиндромальна сенсоневральна приглухуватість типу DFNB
zh	常染色体隐性遗传非综合征性感音神经性聋DFNB型	常染色体隐性遗传非综合征型神经感觉性耳聋DFNB型
tr	Otozomal resesif sendromik olmayan sensörinöral sağırlık tipi DFNB	Otozomal Çekinik, sendromik olmayan nörosensöriyel işitme kaybı tip DFNB · Otozomal Çekinik, sendromik olmayan sensörinöral işitme kaybı tip DFNB · Otozomal Çekinik izole nörosensöriyel sağırlık tip DFNB · Otozomal Çekinik izole sensörinöral sağırlık tip DFNB · Otozomal Çekinik izole nörosensöriyel işitme kaybı tip DFNB · Otozomal Çekinik izole sensörinöral işitme kaybı tip DFNB · Otozomal Çekinik sendromik olmayan nörosensöriyel sağırlık tip DFNB

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	220290	BTNT		validated
OMIM	600060	BTNT		validated
OMIM	600316	BTNT		validated
OMIM	600791	BTNT		validated
OMIM	600792	BTNT		validated
OMIM	600971	BTNT		validated
OMIM	600974	BTNT		validated
OMIM	601071	BTNT		validated
OMIM	601072	BTNT		validated
OMIM	601386	BTNT		validated
OMIM	601869	BTNT		validated
OMIM	602092	BTNT		validated
OMIM	603010	BTNT		validated
OMIM	603098	BTNT		validated
OMIM	603629	BTNT		validated
OMIM	603678	BTNT		validated
OMIM	603720	BTNT		validated
OMIM	604060	BTNT		validated
OMIM	605428	BTNT		validated
OMIM	605818	BTNT		validated
OMIM	607039	BTNT		validated
OMIM	607084	BTNT		validated
OMIM	607101	BTNT		validated
OMIM	607239	BTNT		validated
OMIM	607821	BTNT		validated
OMIM	608219	BTNT		validated
OMIM	608264	BTNT		validated
OMIM	608265	BTNT		validated
OMIM	608565	BTNT		validated
OMIM	608653	BTNT		validated
OMIM	609006	BTNT		validated
OMIM	609439	BTNT		validated
OMIM	609533	BTNT		validated
OMIM	609646	BTNT		validated
OMIM	609647	BTNT		validated
OMIM	609706	BTNT		validated
OMIM	609823	BTNT		validated
OMIM	609941	BTNT		validated
OMIM	609946	BTNT		validated
OMIM	609952	BTNT		validated
OMIM	610143	BTNT		validated
OMIM	610153	BTNT		validated
OMIM	610154	BTNT		validated
OMIM	610212	BTNT		validated
OMIM	610220	BTNT		validated
OMIM	610248	BTNT		validated
OMIM	610265	BTNT		validated
OMIM	610419	BTNT		validated
OMIM	611022	BTNT		validated
OMIM	611451	BTNT		validated
OMIM	612433	BTNT		validated
OMIM	612645	BTNT		validated
OMIM	612789	BTNT		validated
OMIM	613079	BTNT		validated
OMIM	613285	BTNT		validated
OMIM	613307	BTNT		validated
OMIM	613391	BTNT		validated
OMIM	613392	BTNT		validated
OMIM	613453	BTNT		validated
OMIM	613685	BTNT		validated
OMIM	613718	BTNT		validated
OMIM	613865	BTNT		validated
OMIM	613916	BTNT		validated
OMIM	614035	BTNT		validated
OMIM	614414	BTNT		validated
OMIM	614617	BTNT		validated
OMIM	614861	BTNT		validated
OMIM	614899	BTNT		validated
OMIM	614934	BTNT		validated
OMIM	614944	BTNT		validated
OMIM	614945	BTNT		validated
OMIM	615429	BTNT		validated
OMIM	615540	BTNT		validated
OMIM	615837	BTNT		validated
OMIM	615974	BTNT		validated
OMIM	616042	BTNT		validated
OMIM	616515	BTNT		validated
OMIM	616705	BTNT		validated
OMIM	617637	BTNT		validated
OMIM	617639	BTNT		validated
OMIM	617654	BTNT		validated
OMIM	618003	BTNT		validated
OMIM	618145	BTNT		validated
OMIM	618257	BTNT		validated
OMIM	618410	BTNT		validated
OMIM	618422	BTNT		validated
OMIM	618434	BTNT		validated
OMIM	618456	BTNT		validated
OMIM	618481	BTNT		validated
OMIM	619093	BTNT		validated
OMIM	619174	BTNT		validated
OMIM	619500	BTNT		validated
OMIM	619553	BTNT		validated
OMIM	619615	BTNT		validated
OMIM	619804	BTNT		validated
OMIM	620238	BTNT		validated
OMIM	620714	BTNT		validated
OMIM	620722	BTNT		validated
ICD-10	H90.3	NTBT	attributed	validated
ICD-11	AB50	NTBT	attributed	validated
MONDO	0019588	E		validated
UMLS	C5779549	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:98036Rare otorhinolaryngologic disease

Parents in the classifications (1):

ORPHA:87884Rare non-syndromic genetic deafness
rare genetic diseases; rare otorhinolaryngological diseases

No children.

Genes

76 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GJA1	Candidate gene tested in	Not yet assessed	HGNC:4274	ENSG00000152661	121014	6q22.31	gap junction protein alpha 1	11741837[PMID]
ADCY1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:232	ENSG00000164742	103072	7p12.3	adenylate cyclase 1	24482543[PMID]
CDC14A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:1718	ENSG00000079335	603504	1p21.2	cell division cycle 14A	27259055[PMID]
EPS8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3420	ENSG00000151491	600206	12p12.3	EGFR pathway substrate 8, signaling adaptor	24741995[PMID]
GRXCR2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:33862	ENSG00000204928	615762	5q32	glutaredoxin and cysteine rich domain containing 2	24619944[PMID]
S1PR2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3169	ENSG00000267534	605111	19p13.2	sphingosine-1-phosphate receptor 2	26805784[PMID]
SLITRK6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:23503	ENSG00000184564	609681	13q31.1	SLIT and NTRK like family member 6	23543054[PMID]
AFG2B	Disease-causing germline mutation(s) in	Assessed	HGNC:28762	ENSG00000171763	619578	15q21.1	AAA ATPase AFG2B	34626583[PMID]
BDP1	Disease-causing germline mutation(s) in	Assessed	HGNC:13652	ENSG00000145734	607012	5q13.2	BDP1 general transcription factor IIIB subunit	24312468[PMID]
BSND	Disease-causing germline mutation(s) in	Assessed	HGNC:16512	ENSG00000162399	606412	1p32.3	barttin CLCNK type accessory subunit beta	20301607[PMID]
CABP2	Disease-causing germline mutation(s) in	Assessed	HGNC:1385	ENSG00000167791	607314	11q13.2	calcium binding protein 2	22981119[PMID]
CDH23	Disease-causing germline mutation(s) in	Assessed	HGNC:13733	ENSG00000107736	605516	10q22.1	cadherin related 23	20301607[PMID]_24148127[PMID]
CEACAM16	Disease-causing germline mutation(s) in	Assessed	HGNC:31948	ENSG00000213892	614591	19q13.31-q13.32	CEA cell adhesion molecule 16, tectorial membrane component	29703829[PMID]
CIB2	Disease-causing germline mutation(s) in	Assessed	HGNC:24579	ENSG00000136425	605564	15q25.1	calcium and integrin binding family member 2	23023331[PMID]_24148127[PMID]
CLDN14	Disease-causing germline mutation(s) in	Assessed	HGNC:2035	ENSG00000159261	605608	21q22.13	claudin 14	20301607[PMID]_24148127[PMID]
CLIC5	Disease-causing germline mutation(s) in	Assessed	HGNC:13517	ENSG00000112782	607293	6p21.1	CLIC family member 5	24781754[PMID]
COL11A2	Disease-causing germline mutation(s) in	Assessed	HGNC:2187	ENSG00000204248	120290	6p21.32	collagen type XI alpha 2 chain	20301607[PMID]_24148127[PMID]
DCDC2	Disease-causing germline mutation(s) in	Assessed	HGNC:18141	ENSG00000146038	605755	6p22.3	doublecortin domain containing 2	25601850[PMID]
ELMOD3	Disease-causing germline mutation(s) in	Assessed	HGNC:26158	ENSG00000115459	615427	2p11.2	ELMO domain containing 3	24039609[PMID]
EPS8L2	Disease-causing germline mutation(s) in	Assessed	HGNC:21296	ENSG00000177106	614988	11p15.5	EPS8 signaling adaptor L2	26282398[PMID]
ESPN	Disease-causing germline mutation(s) in	Assessed	HGNC:13281	ENSG00000187017	606351	1p36.31	espin	20301607[PMID]_24148127[PMID]
ESRRB	Disease-causing germline mutation(s) in	Assessed	HGNC:3473	ENSG00000119715	602167	14q24.3	estrogen related receptor beta	20301607[PMID]_24148127[PMID]
GIPC3	Disease-causing germline mutation(s) in	Assessed	HGNC:18183	ENSG00000179855	608792	19p13.3	GIPC PDZ domain containing family member 3	24148127[PMID]
GJB2	Disease-causing germline mutation(s) in	Assessed	HGNC:4284	ENSG00000165474	121011	13q12.11	gap junction protein beta 2	20301607[PMID]_24148127[PMID]
GJB3	Disease-causing germline mutation(s) in	Assessed	HGNC:4285	ENSG00000188910	603324	1p34.3	gap junction protein beta 3	10587579[PMID]
GJB6	Disease-causing germline mutation(s) in	Assessed	HGNC:4288	ENSG00000121742	604418	13q12.11	gap junction protein beta 6	20301607[PMID]_24148127[PMID]
GPSM2	Disease-causing germline mutation(s) in	Assessed	HGNC:29501	ENSG00000121957	609245	1p13.3	G protein signaling modulator 2	20301607[PMID]_24148127[PMID]
GRAP	Disease-causing germline mutation(s) in	Assessed	HGNC:4562	ENSG00000154016	604330	17p11.2	GRB2 related adaptor protein	30610177[PMID]
GRXCR1	Disease-causing germline mutation(s) in	Assessed	HGNC:31673	ENSG00000215203	613283	4p13	glutaredoxin and cysteine rich domain containing 1	20301607[PMID]_24148127[PMID]
HGF	Disease-causing germline mutation(s) in	Assessed	HGNC:4893	ENSG00000019991	142409	7q21.11	hepatocyte growth factor	20301607[PMID]_24148127[PMID]
ILDR1	Disease-causing germline mutation(s) in	Assessed	HGNC:28741	ENSG00000145103	609739	3q13.33	immunoglobulin like domain containing receptor 1	24148127[PMID]
KARS1	Disease-causing germline mutation(s) in	Assessed	HGNC:6215	ENSG00000065427	601421	16q23.1	lysyl-tRNA synthetase 1	23768514[PMID]
LHFPL5	Disease-causing germline mutation(s) in	Assessed	HGNC:21253	ENSG00000197753	609427	6p21.31	LHFPL tetraspan subfamily member 5	20301607[PMID]_24148127[PMID]
LOXHD1	Disease-causing germline mutation(s) in	Assessed	HGNC:26521	ENSG00000167210	613072	18q21.1	lipoxygenase homology PLAT domains 1	20301607[PMID]_24148127[PMID]
LRTOMT	Disease-causing germline mutation(s) in	Assessed	HGNC:25033	ENSG00000184154	612414	11q13.4	leucine rich transmembrane and O-methyltransferase domain containing	20301607[PMID]_24148127[PMID]
MARVELD2	Disease-causing germline mutation(s) in	Assessed	HGNC:26401	ENSG00000152939	610572	5q13.2	MARVEL domain containing 2	20301607[PMID]_24148127[PMID]
MET	Disease-causing germline mutation(s) in	Assessed	HGNC:7029	ENSG00000105976	164860	7q31.2	MET proto-oncogene, receptor tyrosine kinase	25941349[PMID]
MINAR2	Disease-causing germline mutation(s) in	Assessed	HGNC:33914	ENSG00000186367	620215	5q23.3	membrane integral NOTCH2 associated receptor 2	35727972[PMID]
MPZL2	Disease-causing germline mutation(s) in	Assessed	HGNC:3496	ENSG00000149573	604873	11q23.3	myelin protein zero like 2	29961571[PMID]
MSRB3	Disease-causing germline mutation(s) in	Assessed	HGNC:27375	ENSG00000174099	613719	12q14.3	methionine sulfoxide reductase B3	24148127[PMID]
MYO15A	Disease-causing germline mutation(s) in	Assessed	HGNC:7594	ENSG00000091536	602666	17p11.2	myosin XVA	20301607[PMID]_24148127[PMID]
MYO3A	Disease-causing germline mutation(s) in	Assessed	HGNC:7601	ENSG00000095777	606808	10p12.1	myosin IIIA	20301607[PMID]_24148127[PMID]
MYO6	Disease-causing germline mutation(s) in	Assessed	HGNC:7605	ENSG00000196586	600970	6q14.1	myosin VI	20301607[PMID]_24148127[PMID]
MYO7A	Disease-causing germline mutation(s) in	Assessed	HGNC:7606	ENSG00000137474	276903	11q13.5	myosin VIIA	20301607[PMID]_24148127[PMID]
NARS2	Disease-causing germline mutation(s) in	Assessed	HGNC:26274	ENSG00000137513	612803	11q14.1	asparaginyl-tRNA synthetase 2, mitochondrial	25807530[PMID]
OTOA	Disease-causing germline mutation(s) in	Assessed	HGNC:16378	ENSG00000155719	607038	16p12.2	otoancorin	20301607[PMID]_24148127[PMID]
OTOF	Disease-causing germline mutation(s) in	Assessed	HGNC:8515	ENSG00000115155	603681	2p23.3	otoferlin	20301607[PMID]_24148127[PMID]
OTOG	Disease-causing germline mutation(s) in	Assessed	HGNC:8516	ENSG00000188162	604487	11p15.1	otogelin	23122587[PMID]
OTOGL	Disease-causing germline mutation(s) in	Assessed	HGNC:26901	ENSG00000165899	614925	12q21.31	otogelin like	23122586[PMID]
PCDH15	Disease-causing germline mutation(s) in	Assessed	HGNC:14674	ENSG00000150275	605514	10q21.1	protocadherin related 15	20301607[PMID]_24148127[PMID]
PDZD7	Disease-causing germline mutation(s) in	Assessed	HGNC:26257	ENSG00000186862	612971	10q24.31	PDZ domain containing 7	29048736[PMID]_26849169[PMID]
PJVK	Disease-causing germline mutation(s) in	Assessed	HGNC:29502	ENSG00000204311	610219	2q31.2	pejvakin	20301607[PMID]_24148127[PMID]
PNPT1	Disease-causing germline mutation(s) in	Assessed	HGNC:23166	ENSG00000138035	610316	2p16.1	polyribonucleotide nucleotidyltransferase 1	23084290[PMID]
PPIP5K2	Disease-causing germline mutation(s) in	Assessed	HGNC:29035	ENSG00000145725	611648	5q21.1	diphosphoinositol pentakisphosphate kinase 2	29590114[PMID]
PTPRQ	Disease-causing germline mutation(s) in	Assessed	HGNC:9679	ENSG00000139304	603317	12q21.31	protein tyrosine phosphatase receptor type Q	20301607[PMID]_24148127[PMID]
RDX	Disease-causing germline mutation(s) in	Assessed	HGNC:9944	ENSG00000137710	179410	11q22.3	radixin	20301607[PMID]_24148127[PMID]
RIPOR2	Disease-causing germline mutation(s) in	Assessed	HGNC:13872	ENSG00000111913	611410	6p22.3	RHO family interacting cell polarization regulator 2	24958875[PMID]
ROR1	Disease-causing germline mutation(s) in	Assessed	HGNC:10256	ENSG00000185483	602336	1p31.3	receptor tyrosine kinase like orphan receptor 1	27162350[PMID]
SERPINB6	Disease-causing germline mutation(s) in	Assessed	HGNC:8950	ENSG00000124570	173321	6p25.2	serpin family B member 6	24148127[PMID]
SLC26A4	Disease-causing germline mutation(s) in	Assessed	HGNC:8818	ENSG00000091137	605646	7q22.3	solute carrier family 26 member 4	20301607[PMID]_24148127[PMID]
SLC26A5	Disease-causing germline mutation(s) in	Assessed	HGNC:9359	ENSG00000170615	604943	7q22.1	solute carrier family 26 member 5	20301607[PMID]_24148127[PMID]
STRC	Disease-causing germline mutation(s) in	Assessed	HGNC:16035	ENSG00000242866	606440	15q15.3	stereocilin	20301607[PMID]_24148127[PMID]
SYNE4	Disease-causing germline mutation(s) in	Assessed	HGNC:26703	ENSG00000181392	615535	19q13.12	spectrin repeat containing nuclear envelope family member 4	23348741[PMID]_20301607[PMID]
TBC1D24	Disease-causing germline mutation(s) in	Assessed	HGNC:29203	ENSG00000162065	613577	16p13.3	TBC1 domain family member 24	24387994[PMID]
TECTA	Disease-causing germline mutation(s) in	Assessed	HGNC:11720	ENSG00000109927	602574	11q23.3	tectorin alpha	20301607[PMID]_24148127[PMID]
TMC1	Disease-causing germline mutation(s) in	Assessed	HGNC:16513	ENSG00000165091	606706	9q21.13	transmembrane channel like 1	20301607[PMID]_24148127[PMID]
TMEM132E	Disease-causing germline mutation(s) in	Assessed	HGNC:26991	ENSG00000181291	616178	17q12	transmembrane protein 132E	25331638[PMID]
TMIE	Disease-causing germline mutation(s) in	Assessed	HGNC:30800	ENSG00000181585	607237	3p21.31	transmembrane inner ear	20301607[PMID]_24148127[PMID]
TMPRSS3	Disease-causing germline mutation(s) in	Assessed	HGNC:11877	ENSG00000160183	605511	21q22.3	transmembrane serine protease 3	20301607[PMID]_24148127[PMID]
TMTC4	Disease-causing germline mutation(s) in	Assessed	HGNC:25904	ENSG00000125247	618203	13q32.3	transmembrane O-mannosyltransferase targeting cadherins 4	37943620[PMID]
TPRN	Disease-causing germline mutation(s) in	Assessed	HGNC:26894	ENSG00000176058	613354	9q34.3	taperin	20301607[PMID]_24148127[PMID]
TRIOBP	Disease-causing germline mutation(s) in	Assessed	HGNC:17009	ENSG00000100106	609761	22q13.1	TRIO and F-actin binding protein	20301607[PMID]_24148127[PMID]
USH1C	Disease-causing germline mutation(s) in	Assessed	HGNC:12597	ENSG00000006611	605242	11p15.1	USH1 protein network component harmonin	20301607[PMID]_24148127[PMID]
WBP2	Disease-causing germline mutation(s) in	Assessed	HGNC:12738	ENSG00000132471	606962	17q25.1	WW domain binding protein 2	26881968[PMID]
WHRN	Disease-causing germline mutation(s) in	Assessed	HGNC:16361	ENSG00000095397	607928	9q32	whirlin	20301607[PMID]_24148127[PMID]
ATP2B2	Modifying germline mutation in	Assessed	HGNC:815	ENSG00000157087	108733	3p25.3	ATPase plasma membrane Ca2+ transporting 2	15829536[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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/90636
This record as JSON: /data/d/90636.json