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46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
adult-onset ataxia and polyneuropathy
aminoglycoside-induced deafness
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Chitty Hall Baraitser Syndrome
Chudley-Mccullough syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Combined Pituitary Hormone Deficiency 3
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
Congenital Ectodermal Dysplasia with Hearing Loss
corneal dystrophy-perceptive deafness syndrome
craniofacial-deafness-hand syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Progressive High-Tone Neural
Deafness-Infertility Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
demyelinating polyneuropathy +
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dilated cardiomyopathy 1J
distal arthrogryposis type 6
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 3, Autosomal Recessive
dominant optic atrophy plus syndrome
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
Familial Visceral Neuropathy 2, Autosomal Recessive
Fitzsimmons Walson Mellor Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
hereditary sensory neuropathy +
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
hypoparathyroidism-deafness-renal disease syndrome
idiopathic progressive polyneuropathy
Insulin-Like Growth Factor I Deficiency
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
Leukoencephalopathy with Dystonia and Motor Neuropathy
mitochondrial DNA depletion syndrome 16B
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Nephropathy, Deafness, and Hyperparathyroidism
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
paraneoplastic polyneuropathy
PARKINSONISM WITH POLYNEUROPATHY
Peripheral Arterial Occlusive Disease 1
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Polyendocrine-Polyneuropathy Syndrome
polyneuropathy in collagen vascular disease
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Retinitis Pigmentosa Inversa with Deafness
Ribose 5-Phosphate Isomerase Deficiency
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Schaap Taylor Baraitser Syndrome
Sensorineural Deafness and Migraine
Sensorineural Deafness with Hypertrophic Cardiomyopathy
Sensorineural Deafness with Mild Renal Dysfunction
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
sensory peripheral neuropathy
Severe Infantile Axonal Neuropathy
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
thiamine-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
Tunglang Savage Bellman Syndrome
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
uveal coloboma-cleft lip and palate-intellectual disability
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
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