Gen-Panel
Nicht-syndromale Schwerhörigkeit, autosomal-rezessiv (DFNB): ID092.04, 83 Gene
ADCY1,
AFG2B,
BDP1,
CABP2,
CDC14A,
CDH23,
CEACAM16,
CIB2,
CLDN9,
CLDN14,
CLIC5,
CLRN2,
COCH,
COL11A2,
DCDC2,
ELMOD3,
EPS8,
EPS8L2,
ESPN,
ESRP1,
ESRRB,
GAB1,
GAS2,
GIPC3,
GJB2,
GJB3,
GJB6,
GPR156,
GRAP,
GRXCR1,
GRXCR2,
HGF,
ILDR1,
KARS1,
LHFPL5,
LOXHD1,
LRTOMT,
MARVELD2,
MET,
MINAR2,
MPZL2,
MSRB3,
MT-RNR1,
MYO3A,
MYO6,
MYO7A,
MYO15A,
NARS2,
OTOA,
OTOF,
OTOG,
OTOGL,
PCDH15,
PDZD7,
PJVK,
PKHD1L1,
PNPT1,
PPIP5K2,
PTPRQ,
RDX,
RIPOR2,
ROR1,
S1PR2,
SERPINB6,
SLC26A4,
SLC26A5,
SPNS2,
STRC,
STX4,
SYNE4,
TBC1D24,
TECTA,
TMC1,
TMEM132E,
TMIE,
TMPRSS3,
TMTC4,
TPRN,
TRIOBP,
TSPEAR,
USH1C,
WBP2,
WHRN
HPO Terms
Prelingual sensorineural hearing impairment, Congenital sensorineural hearing impairment, Severe sensorineural hearing impairment, Profound sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Abnormal cochlea morphology, Enlarged vestibular aqueduct, Cochlear malformation, Absent auditory nerve, Auditory dysfunction, Auditory neuropathy spectrum disorder, Abnormal vestibular function, Nonprogressive hearing loss, Hearing impairment, Bilateral hearing impairment, Prelingual hearing impairment, Congenital hearing impairment, Auditory canal atresia, Abnormal ear morphology
