Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant, 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
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 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia, Optic disc pallor |
OMIM:618970 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Interictal epileptiform activity, Glycosuria, Hyperglycemia, Type I diabetes mellitus |
OMIM:618857 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Diabetes And Deafness, Maternally Inherited |
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Sensorineural hearing impairment, Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
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 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
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 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
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 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Mody |
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Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
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 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Trisomy 10P |
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Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Insulin-Resistance Syndrome Type B |
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Fasting hypoglycemia, Type II diabetes mellitus, Insulin resistance, Insulin-resistant diabetes m... |
ORPHA:2298 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Mogs-Cdg |
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Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses |
ORPHA:79330 |
Dend Syndrome |
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Hyperglycemia, Thickened ears, Hypsarrhythmia |
ORPHA:79134 |
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 |
Mend Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:401973 |