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Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Alpha-B Crystallinopathy with Cataract
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
aminoglycoside-induced deafness
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
Auditory Neuropathy, Nonsyndromic Recessive
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal recessive distal hereditary motor neuronopathy 7
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Becker muscular dystrophy
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
congenital muscular dystrophy +
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
Duchenne muscular dystrophy +
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Emery-Dreifuss muscular dystrophy +
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
facioscapulohumeral muscular dystrophy +
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
glycogen storage disease VII
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
Insulin-Like Growth Factor I Deficiency
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
limb-girdle muscular dystrophy +
Muscular Dystrophy, Animal +
Muscular Dystrophy, Barnes Type
Muscular Dystrophy, Cardiac Type
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency.
Muscular Dystrophy, Mabry Type
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries
Myofibrillar Myopathy, ZASP-Related
Myopathy with Abnormal Lipid Metabolism
Nephropathy, Deafness, and Hyperparathyroidism
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
oculopharyngeal muscular dystrophy +
Oculopharyngeal Muscular Dystrophy 2
oculopharyngodistal myopathy +
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
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
Premature Ovarian Failure 23
Premature Ovarian Failure, Familial
primary ovarian insufficiency 1
primary ovarian insufficiency 10
primary ovarian insufficiency 11
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 16
primary ovarian insufficiency 17
primary ovarian insufficiency 18
primary ovarian insufficiency 19
Primary Ovarian Insufficiency 20
Primary Ovarian Insufficiency 21
Primary Ovarian Insufficiency 22
primary ovarian insufficiency 2A
primary ovarian insufficiency 2B
primary ovarian insufficiency 3
primary ovarian insufficiency 4
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary ovarian insufficiency 8
primary ovarian insufficiency 9
Progressive Muscular Dystrophy, Pectorodorsal
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
Scapulohumeroperoneal Myopathy
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
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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