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Adenine Nucleotide Translocator Deficiency
aminoglycoside-induced deafness
arthrogryposis multiplex congenita +
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
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
Axial Myopathy, Late-Onset +
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
Carey-Fineman-Ziter syndrome +
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Chanarin-Dorfman syndrome +
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Chitty Hall Baraitser Syndrome
chronic progressive external ophthalmoplegia +
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
congenital fibrosis of the extraocular muscles +
Congenital Myopathy with Neuropathy and Deafness
Congenital Universal Muscular Hypoplasia of Krabbe
corneal dystrophy-perceptive deafness syndrome
craniofacial-deafness-hand syndrome
Craniomandibular Disorders +
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Deafness, Progressive High-Tone Neural
Deafness-Infertility Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dilated cardiomyopathy 1J
distal arthrogryposis type 5
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
Ehlers-Danlos syndrome kyphoscoliotic type 2
eosinophilia-myalgia syndrome
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
exophthalmic ophthalmoplegia
External Ophthalmoplegia and Myopia
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
familial periodic paralysis +
Familial Static Ophthalmoplegia
Familial Visceral Neuropathy 2, Autosomal Recessive
Fingerprint Body Myopathy
Fitzsimmons Walson Mellor Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Gamstorp-Wohlfart syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Granulovacuolar Lobular Myopathy with Electrical Myotonia
Hagemoser Weinstein Bresnick Syndrome
Hamano Tsukamoto Syndrome
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hypertrophia Musculorum Vera
hypoparathyroidism-deafness-renal disease syndrome
Insulin-Like Growth Factor I Deficiency
Internal Anal Sphincter Myopathy
internuclear ophthalmoplegia
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Kocher-Debre-Semelaigne Syndrome
Konigsmark Knox Hussels Syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Marinesco-Sjogren syndrome
Medial Tibial Stress Syndrome
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
Miles-Carpenter syndrome +
mitochondrial DNA depletion syndrome 11
Mitochondrial DNA Depletion Syndrome, Myopathic Form +
Motor Neuron Disease with Dementia and Ophthalmoplegia
Multiple mitochondrial dysfunctions syndrome 9A
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
myofascial pain syndrome +
Myopathic Carnitine Deficiency
Myopathy with Lactic Acidosis, Hereditary
Nephropathy, Deafness, and Hyperparathyroidism
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Ocular Myopathy with Curare Sensitivity
Ophthalmoplegia Totalis with Ptosis and Miosis
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Ophthalmoplegia, Familial Total, with Iris Transillumination
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Optic Atrophy Spastic Paraplegia Syndrome
Optic Atrophy with Demyelinating Disease of CNS
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
Pectoralis Muscle, Absence of
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive External Ophthalmoplegia with Hypogonadism
Progressive Nephropathy with Deafness
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive supranuclear palsy +
Proximal Myopathy with Focal Depletion of Mitochondria
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
Schimke X-Linked Mental Retardation 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 ataxic neuropathy, dysarthria, and ophthalmoparesis
Singleton Merten Syndrome +
Skeletal Muscle Reperfusion Injury
Spastic Paraplegia, Optic Atrophy, and Dementia
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
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
Subacute Necrotizing Encephalomyelopathy of Leigh, Adult
systemic primary carnitine deficiency disease
Tel Hashomer Camptodactyly Syndrome
thiamine-responsive megaloblastic anemia syndrome
Treft Sanborn Carey Syndrome
Tunglang Savage Bellman Syndrome
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
very long chain acyl-CoA dehydrogenase deficiency
Wolfram syndrome, mitochondrial form
X-linked nonsyndromic deafness +
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