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 Dominant 9 |
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Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Ravine Syndrome |
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Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Abnormal auditory ev... |
ORPHA:99852 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Arnold-Chiari Malformation Type I |
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Brain stem compression, Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abn... |
ORPHA:268882 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Non-Syndromic Genetic Deafness |
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Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Deafness, Autosomal Dominant 41 |
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Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Periphera... |
OMIM:617519 |
Abcd Syndrome |
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Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Mohr-Tranebjaerg Syndrome |
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Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... |
ORPHA:52368 |
Otosclerosis 7 |
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Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Superficial Siderosis |
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Abnormal cerebellar vermis morphology, Atrophy/Degeneration affecting the brainstem, Cerebellar a... |
ORPHA:247245 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
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Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Benign Schwannoma |
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Allodynia, Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnorma... |
ORPHA:252164 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia, Head titubation |
ORPHA:3240 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Adult Krabbe Disease |
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Abnormal pons morphology, EEG abnormality, Abnormal medulla oblongata morphology, Abnormal midbra... |
ORPHA:206448 |
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 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Optic disc pallor, Cerebellar atrophy, Abnormal auditory evoked... |
OMIM:619260 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... |
ORPHA:206443 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased number of large ... |
ORPHA:101085 |
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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Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials, Hypoplasia of the br... |
OMIM:193700 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Torticollis, Hypoplasia... |
OMIM:609136 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Neurofibromatosis, Type Ii |
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Bilateral vestibular schwannoma, Tinnitus, Hearing impairment, Unilateral vestibular schwannoma, ... |
OMIM:101000 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal cerebellum morphology, Abnormal motor evoked potentials, Decreased ner... |
ORPHA:909 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Hearing impairment, Prolonged b... |
ORPHA:206436 |
Progressive Supranuclear Palsy |
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Blepharospasm, Tremor, Abnormal synaptic transmission, Dystonia |
ORPHA:683 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Low-set, posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Tremor, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Hypsarrhythmia, Macrotia |
OMIM:615574 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Trisomy 10P |
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EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia |
ORPHA:79330 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Abnormal peripheral myelination, Abnormal pinna morphology, Dec... |
OMIM:216400 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Abnormal peripheral myelination, Abnormal pinna morphology, Dec... |
OMIM:133540 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Legius Syndrome |
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Chiari type I malformation, Hearing impairment, Vestibular schwannoma, Dystonia |
ORPHA:137605 |
Plaa-Associated Neurodevelopmental Disorder |
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Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... |
ORPHA:521426 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, External ear malformation, Exaggerated startle response |
ORPHA:438216 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Tay-Sachs Disease |
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Exaggerated startle response, Laryngeal dystonia, Optic atrophy, Tremor, Hearing impairment, Dyst... |
ORPHA:845 |
Mend Syndrome |
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Dandy-Walker malformation, Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Sandhoff Disease |
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Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Gm1 Gangliosidosis Type 1 |
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Hearing impairment, Low-set ears, Exaggerated startle response, Macrotia |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Microtia, Small earlobe, Low-set ears, Posteriorly rotated ears |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Dystonia |
ORPHA:438213 |