Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
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Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
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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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Deafness, Autosomal Dominant 87 |
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Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Deafness, Autosomal Recessive 28 |
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Severe sensorineural hearing impairment |
OMIM:609823 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Ravine Syndrome |
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Abnormal auditory evoked potentials |
ORPHA:99852 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Abcd Syndrome |
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Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Transient Neonatal Diabetes Mellitus |
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Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Optic disc pallor, Hyperglycemia |
OMIM:618970 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Essential Fructosuria |
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Hyperglycemia |
ORPHA:2056 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment |
OMIM:520000 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
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 |
Hyperekplexia-Epilepsy Syndrome |
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EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia, Hand tremor |
OMIM:604484 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Tremor, Optic disc pallor, Hyperglycemia, Sensorineural hearing impairment |
OMIM:619737 |
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 |
Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Mody |
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Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
ORPHA:99027 |
Lipodystrophy, Familial Partial, Type 1 |
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Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Familial Renal Glucosuria |
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Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
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, Sensorineural hearing i... |
ORPHA:101085 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Hypokalemic Periodic Paralysis |
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Postprandial hyperglycemia, Fatigable weakness of respiratory muscles |
ORPHA:681 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Donohue Syndrome |
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Hyperinsulinemia, Low-set ears, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperglycemia, ... |
OMIM:246200 |
Stiff-Person Syndrome |
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Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Greig Cephalopolysyndactyly Syndrome |
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Hyperglycemia |
OMIM:175700 |
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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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Insulin-Resistance Syndrome Type B |
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Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Short Syndrome |
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Insulin resistance, Insulin-resistant diabetes mellitus, Sensorineural hearing impairment, Glucos... |
OMIM:269880 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Dend Syndrome |
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Hyperglycemia, Thickened ears, Hypsarrhythmia |
ORPHA:79134 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
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 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia |
OMIM:615986 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Cerebrotendinous Xanthomatosis |
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Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... |
ORPHA:909 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Developmental And Epileptic Encephalopathy 49 |
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EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Hyperglycemia |
OMIM:615954 |
Fanconi-Bickel Syndrome |
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Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Abnormal pinna morphology, Low-set ears,... |
OMIM:609069 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Necrotizing Enterocolitis |
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Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617301 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Tay-Sachs Disease |
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Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dystonia, Hearing impair... |
ORPHA:845 |
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 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment |
ORPHA:79255 |
Sandhoff Disease |
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Exaggerated startle response, Orthostatic hypotension |
OMIM:268800 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hyperglycemia, Diabetes mellitus |
ORPHA:465508 |
Rabson-Mendenhall Syndrome |
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Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycemia |
ORPHA:90065 |
Beta-Ketothiolase Deficiency |
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Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears |
OMIM:617527 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
Pyruvate Carboxylase Deficiency |
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Tremor, Hyperglycemia, Hypoglycemia, Dystonia |
ORPHA:3008 |
Lipodystrophy, Familial Partial, Type 2 |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Hearing impairment, Glycosuria |
ORPHA:99885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia, Hearing impairment |
OMIM:124000 |
Isolated Sedoheptulokinase Deficiency |
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Postprandial hyperglycemia |
ORPHA:440713 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia, Tremor, Abnormality of peripheral nerve conduction |
ORPHA:79102 |
Fanconi-Bickel Syndrome |
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Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Low-set, posteriorly rotated ears, Mixed hearing impairment, Sensorineural hearing impairment, Cu... |
ORPHA:444077 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
Leprechaunism |
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Insulin resistance, Hyperinsulinemia, Protruding ear, Recurrent infantile hypoglycemia, Fasting h... |
ORPHA:508 |
Atypical Werner Syndrome |
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Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:79474 |
Scorpion Envenomation |
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Tremor, Hyperglycemia, Glycosuria |
ORPHA:466677 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hypoglycemia, Tremor, Low-set ears, Dystonia, Hyperglycemia |
OMIM:220111 |
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 |
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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Optic disc pallor, Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe |
OMIM:619522 |