Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Ravine Syndrome |
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Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... |
ORPHA:99852 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Deafness, Autosomal Dominant 87 |
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Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Non-Syndromic Genetic Deafness |
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Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Otosclerosis 7 |
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Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
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 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
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 |
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 |
Arthrogryposis, Distal, Type 2A |
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Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... |
OMIM:193700 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Macrotia, Optic atrophy, Failure to thrive, Abnormality of p... |
ORPHA:90321 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Trisomy 10P |
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Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Failure to thrive, Low-set ears |
ORPHA:401973 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Cockayne Syndrome A |
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Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |