Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

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Name:	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHAcode:	90636
Synonyms:	Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated neurosensory hearing loss type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive isolated sensorineural hearing loss type DFNB Autosomal recessive non-syndromic neurosensory deafness type DFNB Autosomal recessive non-syndromic neurosensory hearing loss type DFNB Autosomal recessive non-syndromic sensorineural hearing loss type DFNB
XREF(s):	Orphanet OMIM OMIM OMIM ICD-10 OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM OMIM
Analyte(s):	PPIP5K2 TMEM132E GRAP BDP1 AFG2B CEACAM16 NARS2 ROR1 WBP2 EPS8L2 SLC26A4 BSND CDH23 TECTA TMC1 TMIE TMPRSS3 USH1C COL11A2 ELMOD3 GJB2 GJB3 GJB6 MET MYO15A MYO6 MYO7A OTOF PCDH15 WHRN STRC TRIOBP RDX LHFPL5 ESPN ESRRB MARVELD2 MYO3A SLC26A5 OTOA PJVK CLDN14 LRTOMT HGF LOXHD1 GRXCR1 TPRN PTPRQ SERPINB6 TBC1D24 GPSM2 MSRB3 ILDR1 KARS1 GIPC3 TSPEAR CIB2 CABP2 OTOG PNPT1 OTOGL SYNE4 SLITRK6 GRXCR2 EPS8 ADCY1 CLIC5 RIPOR2 DCDC2 ATP2B2 S1PR2 MPZL2 CDC14A GJA1 MINAR2
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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LCAT	99.97	1
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NLRP1	95.26	1
NLRP3	100.00	1
OVOL2	100.00	1
PAX6	99.95	1
PIKFYVE	99.81	1
PITX2	99.98	1
PRDM5	99.76	1
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