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

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

Synonym(s) : Alport deafness-nephropathy

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

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

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

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

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

Synonym(s) : AR dRTA without deafness

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

Synonym(s) : Bartter syndrome with sensorineural deafness

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

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

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

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

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

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

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

Keyword(s) : Dwarfism with retinal atrophy and deafness

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

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

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

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

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

Synonym(s) : Corneal dystrophy with progressive deafness

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

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

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

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

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

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

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

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

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

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

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

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

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

Synonym(s) : Pigmentary disorder with deafness

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

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

Synonym(s) : Deafness-thyroid hormone resistance syndrome

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

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

Synonym(s) : HSAN with deafness and global delay

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

Synonym(s) : Long QT interval-deafness syndrome

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

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

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

Synonym(s) : Mutilating keratoderma plus deafness

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

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

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

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

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

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

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

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

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

Synonym(s) : Maternally-inherited cardiomyopathy and deafness

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

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

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

Synonym(s) : Deafness-Hermann type symphalangism syndrome

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

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

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

Synonym(s) : Isolated genetic deafness

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

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

Synonym(s) : Goiter-deafness syndrome

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

Synonym(s) : XX gonodal dysgenesis-deafness syndrome

Synonym(s) : XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Synonym(s) : XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

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

Synonym(s) : Isolated postlingual genetic deafness

Synonym(s) : Isolated prelingual genetic deafness

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

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

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

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

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

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

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

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

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

Keyword(s) : Sensorineural deafness-pontobulbar palsy syndrome

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

Synonym(s) : Neurosensory deafness with dilated cardiomyopathy

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

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

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

Synonym(s) : Syndromic sensorineural deafness due to COXPD

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

Synonym(s) : Hypopigmentation-deafness syndrome

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

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

Synonym(s) : Retinitis pigmentosa-deafness syndrome

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

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

Synonym(s) : X-linked HSAN with deafness

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

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