Auditory Neuropathy, Autosomal Dominant, 1 |
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Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema, Unilateral deafness |
OMIM:612097 |
Deafness, Unilateral |
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Unilateral deafness |
OMIM:125000 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Reversible Cerebral Vasoconstriction Syndrome |
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Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Cerebral edema, Transie... |
ORPHA:284388 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
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Cerebral edema |
OMIM:614212 |
Glioblastoma |
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Cerebral edema, Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology |
ORPHA:360 |
Kcnq2-Related Epileptic Encephalopathy |
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Abnormal globus pallidus morphology, Cerebral edema, Abnormal cerebral white matter morphology, H... |
ORPHA:439218 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Acute Disseminated Encephalomyelitis |
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Herpes simplex encephalitis, Hypointensity of cerebral white matter on MRI, Diffuse white matter ... |
ORPHA:83597 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema, Congestive heart failure |
OMIM:611126 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
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Cerebral edema |
OMIM:608033 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Cerebral edema, Cardiomyopathy, Abnormal cerebral white matter morphology, Cerebral atrophy |
OMIM:618321 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal putamen morphology, Cerebral edema, Choroid hemorrhage, Abnormality of thalamus morphology |
ORPHA:88619 |
Paragangliomas 6 |
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Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cerebral edema, Congestive heart failure, Su... |
ORPHA:99901 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Unilateral deafness |
ORPHA:1010 |
Dural Sinus Malformation |
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Hypoplasia of the frontal lobes, Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhag... |
ORPHA:97339 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Cerebral edema, Leukoencephalopathy |
OMIM:617186 |
Lujo Hemorrhagic Fever |
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Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Facial edema, Cerebral edema, Severe... |
ORPHA:319213 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
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Cerebral edema |
OMIM:237300 |
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 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Cerebral edema |
OMIM:201450 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Cerebral edema |
OMIM:311250 |
Maple Syrup Urine Disease |
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Cerebral edema |
OMIM:248600 |
Angiostrongyliasis |
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Meningitis, Cerebral edema, Unusual CNS infection |
ORPHA:74 |
Citrullinemia, Type Ii, Adult-Onset |
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Cerebral edema |
OMIM:603471 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Reduced ejection fraction, Pulmonary arterial hypertension, Cardiomyopathy, Recurrent lower respi... |
ORPHA:258 |
Japanese Encephalitis |
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Infectious encephalitis, Abnormal cerebral morphology, Abnormal caudate nucleus morphology, Abnor... |
ORPHA:79139 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Ethylene Glycol Poisoning |
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Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Pulmonary edema, Ce... |
ORPHA:31826 |
Herpes Simplex Virus Encephalitis |
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Cerebral edema |
ORPHA:1930 |
Amoebiasis Due To Free-Living Amoebae |
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Infectious encephalitis, Unusual skin infection, Abnormal cerebral cortex morphology, Abnormal hy... |
ORPHA:68 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Cerebral edema, Congestive heart failure |
OMIM:619355 |
Cryptococcosis |
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Sepsis, Meningitis, Cerebral edema, Pleural effusion, Cerebral cortical atrophy |
ORPHA:1546 |
Neuroocular Syndrome |
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Low-set ears, Anterior creases of earlobe, Cupped ear, Unilateral deafness |
OMIM:619539 |
Familial Or Sporadic Hemiplegic Migraine |
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Cerebral edema |
ORPHA:569 |
Citrullinemia Type Ii |
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Cerebral edema |
ORPHA:247585 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Focal T2 hyperintense basal ... |
OMIM:252010 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level, Urinary incontinence, Dysuria |
ORPHA:441 |
Citrullinemia, Classic |
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Cerebral edema |
OMIM:215700 |
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 |
X-Linked Intellectual Disability, Snyder Type |
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Cerebral edema, Megalencephaly |
ORPHA:3063 |
Argininosuccinic Aciduria |
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Cerebral edema |
OMIM:207900 |
Canavan Disease |
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Abnormality of visual evoked potentials, Hearing impairment |
ORPHA:141 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials |
OMIM:618195 |
Acute Liver Failure |
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Shock, Intracranial hemorrhage, Gastrointestinal hemorrhage, Cerebral edema, Hypotension |
ORPHA:90062 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Aminoaciduria, Abnormality of visual evoked potentials, Methylmalonic aciduria |
ORPHA:1933 |
Arthrogryposis, Distal, Type 2A |
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Oligohydramnios, Abnormal auditory evoked potentials, Polyhydramnios, Hearing impairment |
OMIM:193700 |
Paragangliomas 1 |
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Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... |
OMIM:168000 |
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 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
Paragangliomas 3 |
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Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... |
OMIM:605373 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Sensorineural hearing impairment, Low-set ears, Abnormality of visual evoked potentials |
ORPHA:2971 |
Mogs-Cdg |
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Optic atrophy, Edema, Absent brainstem auditory responses, Polyhydramnios, Sensorineural hearing ... |
ORPHA:79330 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials |
OMIM:609304 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Tinnitus, Mild neurosensory hearing impairment, Abnormality of visual evoked potentials |
OMIM:601152 |
Leigh Syndrome With Nephrotic Syndrome |
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Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:1389 |
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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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Ruvalcaba Syndrome |
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Hematuria, Abnormal localization of kidney, Delayed puberty, Abnormality of visual evoked potentials |
ORPHA:3121 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Abnormality of visual evoked potentials, Hearing impairment |
OMIM:256600 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Urinary incontinence, Abnormality of visual evoked potentials |
OMIM:125310 |
Stargardt Disease |
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Abnormality of visual evoked potentials |
ORPHA:827 |
Pelizaeus-Merzbacher Disease |
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Abnormality of visual evoked potentials, Hearing impairment |
ORPHA:702 |
White-Sutton Syndrome |
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Abnormality of visual evoked potentials, Posteriorly rotated ears, Abnormality of the outer ear, ... |
OMIM:616364 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Diabetes mellitus |
ORPHA:96 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormality of visual evoked potentials |
OMIM:617523 |
Trisomy 10P |
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Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Xq12-Q13.3 Duplication Syndrome |
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Abnormality of visual evoked potentials, Decreased serum insulin-like growth factor 1 |
ORPHA:314389 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Abnormality of visual evoked potentials, Acid... |
OMIM:203700 |
Oculocutaneous Albinism Type 1 |
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Abnormality of visual evoked potentials |
ORPHA:352731 |
Micro Syndrome |
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Hydronephrosis, Abnormality of visual evoked potentials, Abnormal localization of kidney, Hypopla... |
ORPHA:2510 |
Von Hippel-Lindau Disease |
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Adrenal pheochromocytoma, Pancreatic endocrine tumor, Renal cell carcinoma, Elevated urinary cate... |
ORPHA:892 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
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Abnormality of visual evoked potentials |
OMIM:614457 |
Cockayne Syndrome A |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Cockayne Syndrome B |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... |
ORPHA:909 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials |
ORPHA:168491 |
Cln5 Disease |
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Abnormality of visual evoked potentials |
ORPHA:228360 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating aldosterone level, Abnormality of visual evoked potentials, Adrenocorticotr... |
OMIM:231550 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Abnormality of visual evoked potentials, Abnormality of the pinna |
ORPHA:480898 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment |
ORPHA:309263 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Abnormality of visual evoked potentials |
OMIM:616875 |
Infantile Neuroaxonal Dystrophy |
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Abnormality of visual evoked potentials |
ORPHA:35069 |
Friedreich Ataxia |
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Abnormality of visual evoked potentials, Diabetes mellitus |
OMIM:229300 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment |
ORPHA:309271 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials |
ORPHA:79431 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials |
ORPHA:485421 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Renal insufficiency |
ORPHA:79430 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials, Hearing impairment |
ORPHA:512 |
Autosomal Recessive Malignant Osteopetrosis |
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Otitis media, Abnormality of visual evoked potentials, Hearing impairment |
ORPHA:667 |