Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Sensorineural hearing impairment, Nephrolithiasis |
OMIM:267300 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Bilateral sensorineural hearing impairment,... |
OMIM:602722 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Increased serum lactate, Chronic kidney disease, Cerebral atrophy, Hypsarrhythmia, Renal tubular ... |
ORPHA:324525 |
Say Syndrome |
|
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Low-set... |
OMIM:613404 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Sensorineural hearing impairment, Proximal renal tubular acidosis, Lacti... |
OMIM:615824 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kidney diseas... |
OMIM:268315 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic aci... |
OMIM:208085 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... |
OMIM:614922 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... |
OMIM:146255 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P... |
OMIM:604278 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Lactic acidosis, Aminoa... |
ORPHA:436271 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased serum lactate, Sensorineural hearing impairment, Optic ... |
OMIM:220110 |
Gracile Syndrome |
|
Lactic acidosis, Renal Fanconi syndrome, Hearing impairment |
ORPHA:53693 |
Vici Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ureteral atresia, Renal tubular acidosis, EEG ab... |
ORPHA:1493 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Congenital sensorineural hearing impairment, Metabolic acidosis |
ORPHA:79155 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... |
ORPHA:99852 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Congenital sensorineural hearing impairment, Failure to thrive, Genera... |
OMIM:606528 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Stress/infection-induced lactic acidosis, Choreoathetosis, Renal tubular acid... |
ORPHA:431361 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Abnormal pinna morphology, Hypospadias, Small for gestational age, Increased ... |
OMIM:615471 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Leigh Syndrome |
|
Lactic acidosis, Choreoathetosis, Complex organic aciduria, Hypsarrhythmia, Renal tubular dysfunc... |
ORPHA:506 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Failure to thrive, Hypercalciuria |
OMIM:239199 |
Kearns-Sayre Syndrome |
|
Lactic acidosis, Renal tubular acidosis, Sensorineural hearing impairment, Renal Fanconi syndrome |
OMIM:530000 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Lactic acidosis, Athetosis, Proximal renal tubular acidosis |
OMIM:266150 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Generalized d... |
ORPHA:52368 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thri... |
OMIM:611590 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... |
ORPHA:231169 |
Bor Syndrome |
|
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... |
ORPHA:107 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... |
ORPHA:2088 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Proximal renal tubular ... |
ORPHA:427 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, Organi... |
OMIM:619743 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Metabolic ketoacidosis, Tremor, Increased body weight, Re... |
ORPHA:263455 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Sensorineural hearing impairment, Metabolic acidosis, Renal tubular acidosis, Low-set... |
OMIM:619575 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Cranial nerve compression, Optic atrophy, Proximal renal tubular acidosis, Nep... |
ORPHA:2785 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis |
OMIM:179800 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Mixed hearing impairment, Facial palsy, Dilatated internal au... |
OMIM:113650 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Dicarboxylic aciduria |
OMIM:255120 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Renal tubular acidosis, Failure to thrive, Optic atrophy, Low-set ears |
OMIM:613457 |
Renal Tubular Acidosis Iii |
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Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Gitelman Syndrome |
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Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Vertigo, Tub... |
ORPHA:358 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Renal tubular acidosis |
ORPHA:156 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Juvenile Nephropathic Cystinosis |
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Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... |
ORPHA:411634 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
Deafness, Autosomal Dominant 80 |
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Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Failure to thrive, Abnormal tubulointerstitial morphology, Renal tubular dysfu... |
ORPHA:411629 |
Histidinuria-Renal Tubular Defect Syndrome |
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Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr... |
ORPHA:2158 |
Developmental And Epileptic Encephalopathy 50 |
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Renal tubular acidosis, Failure to thrive, Oroticaciduria, Global brain atrophy |
OMIM:616457 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Chronic metabolic acidosis, Failure to thrive, Hypocitraturia, Sensorineural h... |
ORPHA:18 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Increased body weight, Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Failure to thrive |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Increased body weight |
ORPHA:79240 |
Histidinuria Due To A Renal Tubular Defect |
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Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr... |
OMIM:235830 |
Alagille Syndrome 1 |
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Duplicated collecting system, Failure to thrive, Multiple small medullary renal cysts, Renal hypo... |
OMIM:118450 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Failure to thrive, ... |
OMIM:616881 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Branchiogenic Deafness Syndrome |
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Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Cystinosis, Nephropathic |
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Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Stag... |
OMIM:219800 |
Fructose Intolerance, Hereditary |
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Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Oculocerebrorenal Syndrome Of Lowe |
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Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Proteinuria, Increased se... |
ORPHA:534 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Recurrent urinary tract infections, Orthostatic hypotension, EEG with generalized slow activity, ... |
ORPHA:99027 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Crouzon Syndrome |
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Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
Pearson Marrow-Pancreas Syndrome |
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Small for gestational age, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric ... |
OMIM:557000 |
Osteopetrosis, Autosomal Recessive 3 |
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Distal renal tubular acidosis, Optic nerve compression |
OMIM:259730 |
Gorham-Stout Disease |
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Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
7Q31 Microdeletion Syndrome |
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Torticollis, Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of the semicircular canal, ... |
ORPHA:251061 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... |
ORPHA:990 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... |
ORPHA:101085 |
Distal Deletion 10Q |
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Failure to thrive, Congenital sensorineural hearing impairment, Functional abnormality of the bla... |
ORPHA:96148 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubula... |
ORPHA:91500 |
Tyrosinemia, Type I |
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Renal insufficiency, Nephrocalcinosis, Metabolic acidosis, Renal Fanconi syndrome, Glomerular scl... |
OMIM:276700 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Renal insufficiency, Failure to thrive, Proteinuria, Tremor,... |
ORPHA:90321 |
Deafness, Unilateral |
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Unilateral deafness |
OMIM:125000 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
Cataract-Nephropathy-Encephalopathy Syndrome |
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Renal tubular dysfunction |
ORPHA:1380 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Choreoathetosis, Dystonia |
ORPHA:289916 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Failure to thrive, Proximal tubulopathy, Polyuria, Hearing impairment |
OMIM:560000 |
Hypomagnesemia 6, Renal |
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Impaired renal tubular reabsorption of magnesium, Vertigo |
OMIM:613882 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Arthrogryposis, Distal, Type 2A |
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Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... |
OMIM:193700 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Fanconi Renotubular Syndrome 1 |
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Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Saethre-Chotzen Syndrome |
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Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypochloremic metab... |
OMIM:602522 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, Small f... |
ORPHA:171929 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Pr... |
OMIM:231680 |
Cockayne Syndrome B |
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Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Bartter Syndrome Type 4 |
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Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Renal salt wasting... |
ORPHA:89938 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality |
ORPHA:206448 |
Cockayne Syndrome A |
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Cerebellar atrophy, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditor... |
OMIM:216400 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Dent Disease 1 |
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Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Fanconi Renotubular Syndrome 2 |
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Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Dent Disease |
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Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic... |
ORPHA:909 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Isolated Complex I Deficiency |
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Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, Lactic acidosis, Proximal ... |
ORPHA:2609 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
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Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Fanconi-Bickel Syndrome |
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Hyperphosphaturia, Ketonuria, Proteinuria, Failure to thrive, Chronic acidosis, Hypercalciuria, G... |
OMIM:227810 |
Tick-Borne Encephalitis |
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Facial palsy, Tremor, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve... |
ORPHA:297 |
Cystinosis |
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Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Failure ... |
ORPHA:213 |
Schinzel-Giedion Syndrome |
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Abnormality of the stapes, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Abno... |
ORPHA:798 |
Isotretinoin-Like Syndrome |
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Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Duane Retraction Syndrome |
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Ectopic kidney, External ear malformation, Sensorineural hearing impairment, Blepharospasm, Steno... |
ORPHA:233 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Increased serum lactate, Tremor, Renal tubular dysfunction, Lactic acidosis, Brain atrophy, Glyco... |
OMIM:616539 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Calcium nephrolithiasis, Hypercalciuria, Renal phosphate wasting, Renal tubular dysfunction, Fail... |
OMIM:241530 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Failure to thrive, Low-set ears |
ORPHA:401973 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy |
ORPHA:69076 |
Wilson Disease |
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Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Decreased nerve conduction velocity, Tre... |
OMIM:277900 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Failure to thrive, Blepharospasm, Microtia, Conductive hearing impairment, A... |
ORPHA:861 |
Cardiospondylocarpofacial Syndrome |
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Posteriorly rotated ears, Congenital sensorineural hearing impairment, Vesicoureteral reflux, Hor... |
OMIM:157800 |
Norrie Disease |
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Failure to thrive, Cachexia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abn... |
ORPHA:649 |
Ethylene Glycol Poisoning |
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Renal insufficiency, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Lead Poisoning |
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Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial ... |
ORPHA:330015 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Renal tubular dysfunction, Cerebral atrophy, Decreased body weight |
OMIM:614886 |
Mccune-Albright Syndrome |
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Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hearing impairment |
ORPHA:562 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Andersen-Tawil Syndrome |
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Renal tubular dysfunction, Renal hypoplasia, Low-set ears |
ORPHA:37553 |
Proteus Syndrome |
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Cachexia, Long penis, Renal cyst, Low-set ears, Macrotia, Narrow internal auditory canal |
ORPHA:744 |