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174 Result(s)

ORPHA:918   (Disorder)   ABCD syndrome

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Synonym(s) : Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome

ORPHA:921   (Disorder)   Abruzzo-Erickson syndrome

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Synonym(s) : Cleft palate-coloboma-deafness syndrome

ORPHA:998   (Disorder)   Albinism-deafness syndrome

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ORPHA:63   (Disorder)   Alport syndrome

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Synonym(s) : Alport deafness-nephropathy

ORPHA:324540   (Disorder)   Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

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Synonym(s) : Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome

ORPHA:1188   (Disorder)   Ataxia-deafness-intellectual disability syndrome

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Keyword(s) : Ataxia-deafness-mental retardation syndrome

ORPHA:440354   (Disorder)   Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

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Synonym(s) : Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

ORPHA:90635   (Subtype of disorder)   Autosomal dominant non-syndromic sensorineural deafness type DFNA

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Synonym(s) : Autosomal dominant isolated neurosensory deafness type DFNA ; Autosomal dominant isolated sensorineural deafness type DFNA ; Autosomal dominant non-syndromic neurosensory deafness type DFNA

ORPHA:1215   (Disorder)   Autosomal dominant optic atrophy plus syndrome

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Synonym(s) : Optic atrophy-deafness-polyneuropathy-myopathy syndrome

ORPHA:93611   (Subtype of disorder)   Autosomal recessive distal renal tubular acidosis with deafness

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Synonym(s) : AR dRTA with deafness ; Autosomal recessive distal RTA with deafness

ORPHA:93609   (Subtype of disorder)   Autosomal recessive distal renal tubular acidosis without deafness

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Synonym(s) : AR dRTA without deafness

ORPHA:90636   (Subtype of disorder)   Autosomal recessive non-syndromic sensorineural deafness type DFNB

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Synonym(s) : Autosomal recessive isolated neurosensory deafness type DFNB ; Autosomal recessive isolated sensorineural deafness type DFNB ; Autosomal recessive non-syndromic neurosensory deafness type DFNB

ORPHA:1272   (Disorder)   Aymé-Gripp syndrome

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Synonym(s) : Brachycephaly-deafness-cataract-intellectual disability syndrome

ORPHA:123   (Disorder)   Björnstad syndrome

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Synonym(s) : Deafness-pili torti-hypogonadism syndrome

ORPHA:50815   (Disorder)   Branchiogenic deafness syndrome

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ORPHA:85164   (Disorder)   Camptodactyly-tall stature-scoliosis-hearing loss syndrome

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Synonym(s) : Camptodactyly-tall stature-scoliosis-deafness syndrome

ORPHA:3238   (Disorder)   Cardiospondylocarpofacial syndrome

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Synonym(s) : Mitral regurgitation-deafness-skeletal anomalies syndrome

ORPHA:1171   (Disorder)   Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

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Synonym(s) : Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome

ORPHA:90658   (Disorder)   Charcot-Marie-Tooth disease type 1E

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Synonym(s) : Charcot-Marie-Tooth disease-deafness syndrome

ORPHA:90103   (Disorder)   Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

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Synonym(s) : CMT-deafness-intellectual disability syndrome ; Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers

Keyword(s) : Charcot-Marie-Tooth disease-deafness-mental retardation syndrome ; Neuropathy, hereditary motor and sensory, with deafness, mental retardation and absent sensory large myelinated fibers

ORPHA:508476   (Disorder)   Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

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Synonym(s) : Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

ORPHA:191   (Disorder)   Cockayne syndrome

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Keyword(s) : Dwarfism with retinal atrophy and deafness

ORPHA:300313   (Disorder)   Congenital cataract-hearing loss-severe developmental delay syndrome

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Synonym(s) : Congenital cataract-deafness-severe developmental delay syndrome

ORPHA:330054   (Disorder)   Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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Synonym(s) : Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

ORPHA:371212   (Group of disorders)   Congenital disorder of glycosylation with deafness as a major feature

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Synonym(s) : CDG with deafness as a major feature

ORPHA:306530   (Disorder)   Congenital hereditary facial paralysis-variable hearing loss syndrome

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Synonym(s) : Congenital hereditary facial paralysis with variable deafness ; Congenital hereditary facial paralysis-variable deafness syndrome

ORPHA:300284   (Disorder)   Connective tissue disorder due to lysyl hydroxylase-3 deficiency

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Synonym(s) : Bone fragility-contractures-arterial rupture-deafness syndrome

ORPHA:1490   (Disorder)   Corneal dystrophy-perceptive deafness syndrome

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Synonym(s) : Corneal dystrophy with progressive deafness

ORPHA:202   (Disorder)   Crandall syndrome

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Synonym(s) : Alopecia-sensorineural deafness-hypogonadism syndrome

ORPHA:217315   (Disorder)   Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

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Synonym(s) : Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome

ORPHA:494444   (Disorder)   DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

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Synonym(s) : DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

ORPHA:79500   (Disorder)   DOORS syndrome

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Synonym(s) : Deafness-onychoosteodystrophy-intellectual disability syndrome ; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome ; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome

Keyword(s) : Deafness-onychoosteodystrophy-mental retardation syndrome ; Deafness-onychodystrophy-osteodystrophy-mental retardation syndrome ; Deafness-onychodystrophy-osteodystrophy-mental retardation-seizures syndrome

ORPHA:1831   (Disorder)   De Hauwere syndrome

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Synonym(s) : Iris dysplasia-hypertelorism-deafness syndrome

ORPHA:90024   (Disorder)   Deafness with labyrinthine aplasia, microtia, and microdontia

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Synonym(s) : Microdontia-type I microtia-deafness syndrome

ORPHA:90646   (Disorder)   Deafness-hypogonadism syndrome

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ORPHA:94064   (Disorder)   Deafness-infertility syndrome

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ORPHA:85321   (Disorder)   Deafness-intellectual disability syndrome, Martin-Probst type

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Synonym(s) : X-linked deafness-intellectual disability syndrome syndrome

Keyword(s) : X-linked deafness mental retardation syndrome ; Deafness-mental retardation, Martin-Probst type syndrome

ORPHA:3230   (Disorder)   Deafness-oligodontia syndrome

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ORPHA:3231   (Group of disorders)   Deafness-onychodystrophy syndrome

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ORPHA:71267   (Disorder)   Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

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Synonym(s) : Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

ORPHA:2143   (Disorder)   Donnai-Barrow syndrome

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Synonym(s) : Syndrome of ocular and facial anomalies, telecanthus and deafness

ORPHA:529574   (Disorder)   Duane retraction syndrome with congenital deafness

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Synonym(s) : DRS with deafness ; DURS with deafness

ORPHA:199343   (Disorder)   EAST syndrome

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Synonym(s) : Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome

ORPHA:1825   (Disorder)   Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

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Synonym(s) : Epiphyseal dysplasia-deafness-dysmorphism syndrome

ORPHA:999   (Disorder)   Ermine phenotype

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Synonym(s) : Pigmentary disorder with deafness

ORPHA:3219   (Disorder)   Fountain syndrome

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Synonym(s) : Deafness-skeletal dysplasia-coarse face with full lips syndrome

ORPHA:2074   (Disorder)   Gemignani syndrome

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Synonym(s) : Spinocerebellar ataxia-amyotrophy-deafness syndrome

ORPHA:3221   (Disorder)   Generalized resistance to thyroid hormone

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Synonym(s) : Deafness-thyroid hormone resistance syndrome

ORPHA:73272   (Disorder)   Growth delay due to insulin-like growth factor type 1 deficiency

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Synonym(s) : Growth delay-deafness-intellectual disability syndrome

ORPHA:2135   (Disorder)   Hennekam-Beemer syndrome

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Synonym(s) : Mastocytosis-short stature-deafness syndrome

ORPHA:139573   (Disorder)   Hereditary sensory and autonomic neuropathy with deafness and global delay

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Synonym(s) : HSAN with deafness and global delay

ORPHA:293967   (Disorder)   Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

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Synonym(s) : Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

ORPHA:330029   (Disorder)   Hypotrichosis-deafness syndrome

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ORPHA:90647   (Disorder)   Jervell and Lange-Nielsen syndrome

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Synonym(s) : Long QT interval-deafness syndrome

ORPHA:2316   (Disorder)   Johnson neuroectodermal syndrome

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Synonym(s) : Alopecia-anosmia-deafness-hypogonadism syndrome

ORPHA:445062   (Disorder)   Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

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Synonym(s) : Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

ORPHA:477   (Disorder)   KID syndrome

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Synonym(s) : Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

ORPHA:494   (Disorder)   Keratoderma hereditarium mutilans

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Synonym(s) : Mutilating keratoderma plus deafness

ORPHA:2698   (Disorder)   Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

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Synonym(s) : Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

ORPHA:300179   (Subtype of disorder)   Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

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Synonym(s) : Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness

ORPHA:50811   (Disorder)   Lipodystrophy-intellectual disability-deafness syndrome

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Keyword(s) : Lipodystrophy-mental retardation-deafness syndrome

ORPHA:2408   (Disorder)   Lowe-Kohn-Cohen syndrome

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Synonym(s) : Deafness-nephritis-ano-rectal malformation syndrome

ORPHA:171851   (Disorder)   MEDNIK syndrome

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Synonym(s) : Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome

ORPHA:352328   (Disorder)   MEGDEL syndrome

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Synonym(s) : 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome

ORPHA:2578   (Subtype of disorder)   Mayer-Rokitansky-Küster-Hauser syndrome type 2

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Keyword(s) : Klippel-Feil deformity-conductive deafness-absent vagina

ORPHA:2533   (Disorder)   Microcephaly-deafness-intellectual disability syndrome

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Keyword(s) : Microcephaly-deafness-mental retardation syndrome

ORPHA:457351   (Disorder)   Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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Synonym(s) : Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

ORPHA:1349   (Disorder)   Mitochondrial DNA-related cardiomyopathy and hearing loss

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Synonym(s) : Maternally-inherited cardiomyopathy and deafness

ORPHA:90641   (Subtype of disorder)   Mitochondrial non-syndromic sensorineural deafness

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Synonym(s) : Isolated mitochondrial neurosensory deafness ; Isolated mitochondrial sensorineural deafness ; Mitochondrial non-syndromic neurosensory deafness

ORPHA:168609   (Subtype of disorder)   Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

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Synonym(s) : Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure ; Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure

ORPHA:52368   (Disorder)   Mohr-Tranebjaerg syndrome

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Synonym(s) : Deafness-dystonia-optic neuronopathy syndrome

ORPHA:166011   (Disorder)   Multiple epiphyseal dysplasia, Beighton type

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Synonym(s) : Multiple epiphyseal dysplasia-myopia-deafness syndrome

ORPHA:3237   (Disorder)   Multiple synostoses syndrome

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Synonym(s) : Deafness-Hermann type symphalangism syndrome

ORPHA:2588   (Disorder)   Myhre syndrome

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Synonym(s) : Facial dysmorphism-intellectual disability-short stature-deafness syndrome

ORPHA:2663   (Disorder)   Nathalie syndrome

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Synonym(s) : Deafness-cataract-skeletal anomalies syndrome

ORPHA:231720   (Disorder)   Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

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Synonym(s) : Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

ORPHA:87884   (Disorder)   Non-syndromic genetic deafness

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Synonym(s) : Isolated genetic deafness

ORPHA:2653   (Disorder)   Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

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Synonym(s) : Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome

ORPHA:91133   (Disorder)   Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

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Synonym(s) : Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome

ORPHA:2202   (Disorder)   Palmoplantar keratoderma-deafness syndrome

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Synonym(s) : PPK-deafness syndrome ; Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:705   (Disorder)   Pendred syndrome

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Synonym(s) : Goiter-deafness syndrome

ORPHA:397744   (Disorder)   Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

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Synonym(s) : Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

ORPHA:2855   (Disorder)   Perrault syndrome

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Synonym(s) : XX gonodal dysgenesis-deafness syndrome

ORPHA:171848   (Disorder)   Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

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Synonym(s) : Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome

ORPHA:216452   (Subtype of disorder)   Postlingual non-syndromic genetic deafness

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Synonym(s) : Isolated postlingual genetic deafness

ORPHA:216445   (Subtype of disorder)   Prelingual non-syndromic genetic deafness

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Synonym(s) : Isolated prelingual genetic deafness

ORPHA:228012   (Disorder)   Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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Synonym(s) : Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

ORPHA:1051   (Disorder)   Ramos-Arroyo syndrome

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Synonym(s) : Corneal anesthesia-deafness-intellectual disability syndrome

ORPHA:68361   (Group of disorders)   Rare deafness

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ORPHA:96210   (Group of disorders)   Rare genetic deafness

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ORPHA:494439   (Disorder)   Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

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Synonym(s) : Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

ORPHA:3085   (Disorder)   Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

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Synonym(s) : Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome

Keyword(s) : Retinitis pigmentosa-mental retardation-deafness-hypogenitalism syndrome

ORPHA:97229   (Disorder)   Riboflavin transporter deficiency

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Keyword(s) : Sensorineural deafness-pontobulbar palsy syndrome

ORPHA:1399   (Disorder)   Richards-Rundle syndrome

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Synonym(s) : Ketoaciduria-intellectual disability-ataxia-deafness syndrome

ORPHA:217622   (Disorder)   Sensorineural deafness with dilated cardiomyopathy

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Synonym(s) : Neurosensory deafness with dilated cardiomyopathy

ORPHA:66633   (Disorder)   Sensorineural hearing loss-early graying-essential tremor syndrome

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Synonym(s) : Sensorineural deafness-early graying-essential tremor syndrome

Keyword(s) : Sensorineural deafness-early greying-essential tremor syndrome

ORPHA:163668   (Disorder)   Spondyloepiphyseal dysplasia, MacDermot type

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Synonym(s) : Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome

ORPHA:838   (Disorder)   Susac syndrome

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Synonym(s) : Retinopathy-encephalopathy-deafness associated with microangiopathy

ORPHA:90642   (Group of disorders)   Syndromic genetic deafness

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ORPHA:457223   (Disorder)   Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

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Synonym(s) : Syndromic sensorineural deafness due to COXPD

ORPHA:49827   (Disorder)   Thiamine-responsive megaloblastic anemia syndrome

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Synonym(s) : Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness

ORPHA:42665   (Disorder)   Tietz syndrome

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Synonym(s) : Hypopigmentation-deafness syndrome

ORPHA:857   (Disorder)   Townes-Brocks syndrome

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Synonym(s) : Sensorineural deafness with imperforate anus and hypoplastic thumbs

ORPHA:3349   (Disorder)   Treft-Sanborn-Carey syndrome

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Synonym(s) : Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome

ORPHA:886   (Disorder)   Usher syndrome

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Synonym(s) : Retinitis pigmentosa-deafness syndrome

ORPHA:3463   (Disorder)   Wolfram syndrome

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Synonym(s) : Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

ORPHA:3464   (Disorder)   Woodhouse-Sakati syndrome

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Synonym(s) : Diabetes-hypogonadism-deafness-intellectual disability syndrome

ORPHA:139583   (Disorder)   X-linked hereditary sensory and autonomic neuropathy with deafness

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Synonym(s) : X-linked HSAN with deafness

ORPHA:383   (Subtype of disorder)   X-linked mixed deafness with perilymphatic gusher

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Synonym(s) : Nance deafness ; X-linked deafness type 2 ; Conductive deafness with stapes fixation ; X-linked mixed conductive and neurosensory deafness ; X-linked mixed conductive and sensorineural deafness

ORPHA:90625   (Subtype of disorder)   X-linked non-syndromic sensorineural deafness type DFN

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Synonym(s) : X-linked isolated neurosensory deafness type DFN ; X-linked isolated sensorineural deafness type DFN ; X-linked non-syndromic neurosensory deafness type DFN

ORPHA:85297   (Disorder)   X-linked spinocerebellar ataxia type 3

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Synonym(s) : X-linked ataxia-deafness syndrome