Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Ring Dermoid Of Cornea |
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Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... |
OMIM:617519 |
Optic Atrophy 8 |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Lattice Corneal Dystrophy Type I |
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Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Leukodystrophy, Hypomyelinating, 5 |
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Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... |
OMIM:610532 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
Anterior Segment Dysgenesis 8 |
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Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... |
OMIM:617523 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... |
OMIM:601455 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... |
OMIM:600501 |
Leukodystrophy, Hypomyelinating, 13 |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... |
OMIM:616881 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Umbilical hernia, Inguinal he... |
OMIM:614170 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso... |
OMIM:109120 |
Limbal Stem Cell Deficiency |
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Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
Neurotrophic Keratopathy |
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Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... |
ORPHA:137596 |
Chronic Bilirubin Encephalopathy |
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Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... |
ORPHA:529799 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... |
ORPHA:293603 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Arthrogryposis, Distal, Type 2A |
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Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... |
OMIM:193700 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Anterior Segment Dysgenesis 7 |
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Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Cataract, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Late-Infantile/Juvenile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Cockayne Syndrome B |
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Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Small for gestational age, Failu... |
OMIM:133540 |
Cockayne Syndrome Type 1 |
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Cataract, Optic atrophy, Foot joint contracture, Hearing impairment, Failure to thrive, Abnormali... |
ORPHA:90321 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy |
OMIM:609141 |
Corneal Endothelial Dystrophy |
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Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Vernal Keratoconjunctivitis |
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Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Brittle Cornea Syndrome 1 |
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Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, He... |
OMIM:229200 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Progressive Supranuclear Palsy |
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Dementia, Memory impairment, Cognitive impairment, Abnormal synaptic transmission |
ORPHA:683 |
Cockayne Syndrome A |
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Cataract, Optic atrophy, Abnormal auditory evoked potentials, Atypical scarring of skin, Failure ... |
OMIM:216400 |
Infantile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... |
ORPHA:101085 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor ev... |
ORPHA:909 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
Anterior Segment Dysgenesis 6 |
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Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Mogs-Cdg |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... |
ORPHA:79330 |
Mend Syndrome |
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Low-set ears, Cataract, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cho... |
ORPHA:401973 |
Trisomy 10P |
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Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |