Select Entries from OMIM -- Online Mendelian Inheritance in Man

218 entries found, searching for "congenital deafness"

*304500 DEAFNESS, X-LINKED 2, PERCEPTIVE CONGENITAL; DFN2
*276900 USHER SYNDROME, TYPE IA; USH1A
*220500 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM
#220400 JERVELL AND LANGE-NIELSEN SYNDROME
#124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
*243800 JOHANSON-BLIZZARD SYNDROME; JBS
*300030 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4
*221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA
220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
*226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA
220600 DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET
601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
604363 MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS
602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION
221000 DEAFNESS, CONGENITAL, SEMILETHAL
124580 DEAFNESS, DOMINANT CONGENITAL SEVERE SENSORINEURAL
220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
120502 COMMISSURAL LIP PITS WITH CONGENITAL CONDUCTIVE OR MIXED DEAFNESS, PREAURICULAR SINUS, AND EXTERNAL EAR ANOMALY
221500 DEAFNESS, NEURAL, CONGENITAL MODERATE
275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS
#304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION
*274600 PENDRED SYNDROME; PDS
#220700 DEAFNESS, AUTOSOMAL RECESSIVE
*126800 DUANE RETRACTION SYNDROME 1; DURS1
#600316 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3
*104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
#220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
#183900 SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE
#103500 TIETZ SYNDROME
*300700 ALBINISM-DEAFNESS SYNDROME; ADFN
#301050 ALPORT SYNDROME, X-LINKED; ATS
148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
*217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
125250 DEAFNESS--OPTIC ATROPHY SYNDROME
157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES
212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME
*305450 FG SYNDROME; FGS1
#267300 RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS
221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS
235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS
303110 CHOROIDEREMIA WITH DEAFNESS AND OBESITY
*128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES
178651 PULMONIC STENOSIS AND DEAFNESS
*193500 WAARDENBURG SYNDROME, TYPE I; WS1
#600791 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 4; DFNB4
*600792 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5; DFNB5
#107480 TOWNES-BROCKS SYNDROME; TBS
*601072 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8
*153640 FECHTNER SYNDROME; FTNS
#249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
*601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
221740 DEAFNESS-OLIGODONTIA SYNDROME
304350 DEAFNESS-HYPOGONADISM SYNDROME; DHS
*300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
153650 MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS
*124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL
#133200 ERYTHROKERATODERMIA VARIABILIS; EKV
125230 DEAFNESS-CRANIOFACIAL SYNDROME
125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY
147770 JOHNSON NEUROECTODERMAL SYNDROME
*161900 NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT
122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION
221200 DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT
256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS
224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS
*604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
*192500 LONG QT SYNDROME 1
*276903 MYOSIN VIIA; MYO7A
601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION
*602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
#601543 DEAFNESS, AUTOSOMAL DOMINANT 8; DFNA8
*121011 GAP JUNCTION PROTEIN, BETA-2; GJB2
#142623 HIRSCHSPRUNG DISEASE
*120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1
214800 CHOANAL ATRESIA, POSTERIOR; PCA
604213 DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS
*124480 DEAFNESS AND ONYCHODYSTROPHY, DOMINANT FORM
602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS
*272460 SYNSPONDYLISM, CONGENITAL
*603622 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17
227010 ERMINE PHENOTYPE
*176930 COAGULATION FACTOR II; F2
229120 FOUNTAIN SYNDROME
#103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS
*102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1
144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
*304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED
*149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
*157900 MOEBIUS SYNDROME 1; MBS1
*600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6
600588 THROMBOCYTOPENIA, CONGENITAL DYSMEGAKARYOPOIETIC, PARIS-TROUSSEAU TYPE
*212500 CATARACT, CONGENITAL OR JUVENILE
159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
*602666 MYOSIN XV; MYO15
*188400 DIGEORGE SYNDROME; DGS
*310600 NORRIE DISEASE; NDP
*300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4
120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS
*561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1
*158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
*266900 RENAL DYSPLASIA AND RETINAL APLASIA
#113650 BRANCHIOOTORENAL DYSPLASIA
#172800 PIEBALD TRAIT; PBT
*601536 NAVAJO BRAIN STEM SYNDROME
307300 HYPOGONADISM, MALE
*159440 MYELIN PROTEIN ZERO; MPZ
*151100 LEOPARD SYNDROME
*162400 NEUROPATHY, HEREDITARY SENSORY, TYPE I; HSN1
*107100 ANORECTAL ANOMALIES
309350 MELNICK-NEEDLES OSTEODYSPLASTY
*156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF
314600 WILDERVANCK SYNDROME
223200 DISORGANIZATION, MOUSE, HOMOLOG OF
*190160 THYROID HORMONE RECEPTOR, BETA; THRB
*134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
#185800 SYMPHALANGISM, PROXIMAL; SYM1
*227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
269880 SHORT SYNDROME
*241400 HYPOPARATHYROIDISM
*236800 HYDROXYKYNURENINURIA
*186570 SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE
*143200 HYALOIDEORETINAL DEGENERATION OF WAGNER
*183600 SPLIT-HAND/FOOT MALFORMATION, TYPE 1; SHFM1
*145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
*182900 SPHEROCYTOSIS, HEREDITARY; HS
*154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME 1; TCOF1
*166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
*239500 HYPERPROLINEMIA, TYPE I
*148900 KLIPPEL-FEIL SYNDROME
#193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A
#192430 VELOCARDIOFACIAL SYNDROME
165680 OSSICULAR MALFORMATIONS, FAMILIAL
*164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT
*256550 NEURAMINIDASE DEFICIENCY
#305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
*101000 NEUROFIBROMATOSIS, TYPE II; NF2
#108300 STICKLER SYNDROME, TYPE I; STL1
*600674 MICROTIA-ANOTIA
277000 VAGINA, ABSENCE OF
*259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE
*131242 ENDOTHELIN 3; EDN3
*131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB
*133510 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
#241200 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA
#248250 HYPOMAGNESEMIA, PRIMARY
#166210 OSTEOGENESIS IMPERFECTA CONGENITA; OIC
*166800 OTOSCLEROSIS; OTS
#308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
#274300 THYROID HORMONE UNRESPONSIVENESS
167500 PALATOPHARYNGEAL INCOMPETENCE
*129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2
228355 FETAL IODINE DEFICIENCY DISORDER; FIDD
*604185 MOEBIUS SYNDROME 3; MBS3
310465 N SYNDROME; NSX
#174800 MCCUNE-ALBRIGHT SYNDROME; MAS
*176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1
*149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
280000 ZUNICH NEUROECTODERMAL SYNDROME
223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE
*219000 CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
*227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY
*163950 NOONAN SYNDROME 1; NS1
*203100 ALBINISM I
*303100 CHOROIDEREMIA; CHM
*224690 EAR, PATELLA, SHORT STATURE SYNDROME
*303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5
*601097 PERIPHERAL MYELIN PROTEIN 22; PMP22
#148820 KLEIN-WAARDENBURG SYNDROME
*311300 OTOPALATODIGITAL SYNDROME
#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
*304110 CRANIOFRONTONASAL SYNDROME; CFNS
304120 CRANIOORODIGITAL SYNDROME
302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED
#145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS