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3-methylglutaconic aciduria type 5
aminoglycoside-induced deafness
anterior segment dysgenesis +
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
Auditory Neuropathy, Nonsyndromic Recessive
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal genetic disease +
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 +
Camurati-Engelmann disease +
Cardiac Conduction Disease with or without Dilated Cardiomyopathy
cardiofaciocutaneous syndrome +
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
catecholaminergic polymorphic ventricular tachycardia +
catecholaminergic polymorphic ventricular tachycardia 1
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
chondrodysplasia punctata +
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
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
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 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1I
dilated cardiomyopathy 1II
dilated cardiomyopathy 1J A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1K
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1O
Dilated Cardiomyopathy 1OO
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1T
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1W
dilated cardiomyopathy 1X
dilated cardiomyopathy 1Y
dilated cardiomyopathy 1Z
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy 2C
dilated cardiomyopathy 2D
dilated cardiomyopathy 2E
dilated cardiomyopathy 2F
dilated cardiomyopathy 2G
Dilated Cardiomyopathy 2H
Dilated Cardiomyopathy 2I
Dilated Cardiomyopathy 2J
Dilated Cardiomyopathy 3A
Dilated Cardiomyopathy with Left Ventricular Noncompaction +
Dilated Cardiomyopathy, Right Ventricular
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
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
erythrokeratodermia variabilis +
familial hemophagocytic lymphohistiocytosis 5
familial nephrotic syndrome +
Familial Visceral Neuropathy 2, Autosomal Recessive
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group J
Fanconi anemia complementation group N
fetal akinesia deformation sequence syndrome +
Fitzsimmons Walson Mellor Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
gene duplication disease +
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
hereditary combined deficiency of vitamin K-dependent clotting factors +
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
hypertrophic cardiomyopathy 25
hypoparathyroidism-deafness-renal disease syndrome
infantile histiocytoid cardiomyopathy
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
Insulin-Like Growth Factor I Deficiency
isolated microphthalmia 4
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
LONG-OLSEN-DISTELMAIER SYNDROME
multiple epiphyseal dysplasia due to collagen 9 anomaly +
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
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
peripartum cardiomyopathy
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
primary congenital glaucoma +
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Retinitis Pigmentosa Inversa with Deafness
Ritscher-Schinzel syndrome +
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
SHOX-related short stature
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
Winship Viljoen Leary Syndrome
Wolfram syndrome, mitochondrial form
X-linked dilated cardiomyopathy +
X-linked monogenic disease +
X-linked nonsyndromic deafness +
Y-linked monogenic disease +
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