Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Deafness, Autosomal Recessive 74 |
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Hearing impairment |
OMIM:613718 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Ravine Syndrome |
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Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Charcot-Marie-Tooth Disease, Type 4D |
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Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Abcd Syndrome |
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Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4C |
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Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
Mohr-Tranebjaerg Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
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 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... |
OMIM:619260 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
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 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Arthrogryposis, Distal, Type 2A |
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Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials |
OMIM:193700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Optic atrophy, Diffuse cerebral atrophy, Hearing impairment,... |
ORPHA:206436 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Trisomy 10P |
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EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d... |
ORPHA:909 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment |
ORPHA:79330 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |