Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Optic Atrophy 8 |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Deafness, Autosomal Dominant 87 |
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Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Deafness, Autosomal Recessive 28 |
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Severe sensorineural hearing impairment |
OMIM:609823 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Athetosis |
OMIM:618857 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Hearing impairment, Hyperglycemia, Transient neonatal diabe... |
ORPHA:99886 |
Charcot-Marie-Tooth Disease, Type 4C |
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Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Optic disc pallor, Hyperglycemia |
OMIM:618970 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... |
OMIM:262190 |
Leukodystrophy, Hypomyelinating, 5 |
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Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... |
OMIM:610532 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment |
OMIM:520000 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Hyperekplexia-Epilepsy Syndrome |
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EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia, Hand tremor |
OMIM:604484 |
Leukodystrophy, Hypomyelinating, 13 |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Late-Infantile/Juvenile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hyperglycemia, Optic disc pallor, Tremor, Sensorineural hearing impairment |
OMIM:619737 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Mody |
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Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... |
ORPHA:552 |
Stiff Person Spectrum Disorder |
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Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Lipodystrophy, Familial Partial, Type 1 |
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Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
Infantile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia, Fatigable weakness of respiratory muscles |
ORPHA:681 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... |
ORPHA:101085 |
Donohue Syndrome |
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Low-set ears, Postprandial hyperglycemia, Hypertrichosis, Hyperglycemia, Hyperinsulinemia, Fastin... |
OMIM:246200 |
Mogs-Cdg |
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Optic atrophy, Alopecia, Fair hair, Long eyelashes, Hirsutism, Sensorineural hearing impairment, ... |
ORPHA:79330 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Insulin resistance, Alopecia, Glycosuria, Insulin-resistant diabetes ... |
ORPHA:2298 |
Stiff-Person Syndrome |
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Opisthotonus, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
Greig Cephalopolysyndactyly Syndrome |
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Hyperglycemia, Hirsutism |
OMIM:175700 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... |
ORPHA:90321 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Trisomy 10P |
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Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... |
ORPHA:171929 |
Cole Disease |
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Abnormal hair morphology, Hyperglycemia |
OMIM:615522 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Short Syndrome |
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Low-set ears, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... |
OMIM:269880 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypoglycemia, EEG with burst suppression, Hyperglycemia, Hypsarrhythmia, Exaggerated startle resp... |
OMIM:620423 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... |
OMIM:608612 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Hearing impairment, Exaggerated startle response |
OMIM:620114 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor evoked potenti... |
ORPHA:909 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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EEG with generalized slow activity, Optic nerve hypoplasia, Macrotia, Exaggerated startle response |
OMIM:617864 |
Dend Syndrome |
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Hyperglycemia, Hypsarrhythmia, Thickened ears |
ORPHA:79134 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia |
OMIM:615986 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Cockayne Syndrome B |
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Optic atrophy, Dry hair, Abnormal auditory evoked potentials, Abnormal hair morphology, Decreased... |
OMIM:133540 |
Developmental And Epileptic Encephalopathy 49 |
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Optic atrophy, Long eyelashes, Thick eyebrow, EEG abnormality, Exaggerated startle response, Macr... |
OMIM:617281 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Cockayne Syndrome A |
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Optic atrophy, Dry hair, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... |
OMIM:216400 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hirsutism, Hy... |
ORPHA:521426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrichos... |
ORPHA:769 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Low-set ears, Optic atrophy, Hypoglycemia, Exaggerated startle response |
OMIM:620451 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Glycine Encephalopathy With Normal Serum Glycine |
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Low-set ears, Optic atrophy, Long eyelashes, Exaggerated startle response |
OMIM:617301 |
Asparagine Synthetase Deficiency |
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EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... |
OMIM:615574 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Impaired glucose... |
ORPHA:2088 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Hyperglycemia |
OMIM:615954 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Pancreatic And Cerebellar Agenesis |
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Low-set ears, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Abnormal pinna morphology, Optic ne... |
OMIM:609069 |
Tay-Sachs Disease |
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Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... |
ORPHA:845 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Gm1 Gangliosidosis Type 1 |
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Low-set ears, Hearing impairment, Hirsutism, Exaggerated startle response, Macrotia |
ORPHA:79255 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Low-set ears, Optic atrophy, Hirsutism, Exaggerated startle response, Posteriorly rotated ears |
OMIM:617527 |
Necrotizing Enterocolitis |
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Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Sandhoff Disease |
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Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Lipodystrophy, Familial Partial, Type 2 |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hyperglycemia, Diabetes mellitus |
ORPHA:465508 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose ... |
OMIM:248370 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycemia |
ORPHA:90065 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Alstrom Syndrome |
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Alopecia, Progressive sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Hype... |
OMIM:203800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Highly arched eyebrow, Cupped ear, Hearing impairment, Conductive hearing impairment, Low-set, po... |
ORPHA:444077 |
Pyruvate Carboxylase Deficiency |
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Hypoglycemia, Hyperglycemia, Dystonia, Tremor |
ORPHA:3008 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Hearing impairment |
ORPHA:99885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hearing impairment, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, EEG abnormality, Brittle... |
OMIM:124000 |
Atypical Werner Syndrome |
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Abnormal hair whorl, Alopecia, Glycosuria, Insulin-resistant diabetes mellitus, Premature graying... |
ORPHA:79474 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia |
ORPHA:440713 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia |
OMIM:227810 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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EEG with generalized slow activity, Thick eyebrow, Exaggerated startle response |
OMIM:618367 |
Leprechaunism |
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Low-set ears, Postprandial hyperglycemia, Facial hypertrichosis, Insulin resistance, Hypertrichos... |
ORPHA:508 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Low-set ears, Highly arched eyebrow, Hypoglycemia, Hyperglycemia, Tremor, Hirsutism, Low anterior... |
OMIM:220111 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria, Tremor |
ORPHA:466677 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia, Tremor |
ORPHA:79102 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyperglycemia, Abnormal autonomic nervous system physiology, Sensorineural hearing impairment |
ORPHA:293987 |
Bardet-Biedl Syndrome |
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Insulin resistance, Hearing impairment, Low-set, posteriorly rotated ears, Impaired fasting gluco... |
ORPHA:110 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dystonia, Optic disc pallor, High anterior hairline, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia |
OMIM:619522 |