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aminoglycoside-induced deafness
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 3
Ataxia, Deafness, and Cardiomyopathy
ataxia-oculomotor apraxia type 4
Athabaskan brainstem dysgenesis syndrome
Auditory Neuropathy, Nonsyndromic Recessive
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 10
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 16
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 18
autosomal recessive spinocerebellar ataxia 19 An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spinocerebellar ataxia 21
autosomal recessive spinocerebellar ataxia 22
autosomal recessive spinocerebellar ataxia 23
autosomal recessive spinocerebellar ataxia 24
autosomal recessive spinocerebellar ataxia 25
autosomal recessive spinocerebellar ataxia 26
autosomal recessive spinocerebellar ataxia 27
autosomal recessive spinocerebellar ataxia 28
autosomal recessive spinocerebellar ataxia 29
autosomal recessive spinocerebellar ataxia 3
autosomal recessive spinocerebellar ataxia 30
autosomal recessive spinocerebellar ataxia 31
autosomal recessive spinocerebellar ataxia 32
autosomal recessive spinocerebellar ataxia 33
autosomal recessive spinocerebellar ataxia 4
autosomal recessive spinocerebellar ataxia 6
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 8
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +
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
Cayman type cerebellar ataxia
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
cerebellar atrophy, visual impairment, and psychomotor retardation
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Charlevoix-Saguenay spastic ataxia
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 Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
craniofacial-deafness-hand syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Progressive High-Tone Neural
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
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
Galloway-Mowat syndrome +
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
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
infantile cerebellar-retinal degeneration
Insulin-Like Growth Factor I Deficiency
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Marinesco-Sjogren syndrome
mitochondrial DNA depletion syndrome 7
Mousa Al din Al Nassar Syndrome
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
myoclonic cerebellar dyssynergia +
Nephropathy, Deafness, and Hyperparathyroidism
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
olivopontocerebellar atrophy +
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary coenzyme Q10 deficiency 4
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Retinitis Pigmentosa Inversa with Deafness
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Schaap Taylor Baraitser Syndrome
Sensorineural Deafness and Male Infertility
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
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
Spinocerebellar Ataxias +
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-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
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