Auditory Neuropathy, Autosomal Dominant 1 |
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Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Opticocochleodentate Degeneration |
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Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Deafness, X-Linked 6 |
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Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Deafness, Autosomal Dominant 9 |
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Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
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, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Pendred Syndrome |
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Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Chromosome Xq21 Deletion Syndrome |
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Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Usher Syndrome Type 1 |
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Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib... |
ORPHA:231169 |
Branchiootic Syndrome 1 |
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Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Usher Syndrome Type 3 |
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Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Deafness, Autosomal Dominant 77 |
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Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Cochlear degeneration, Hearing impairment, Optic atrophy, Spinocerebellar atrophy |
ORPHA:95433 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Deafness-Hypogonadism Syndrome |
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Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Mohr-Tranebjaerg Syndrome |
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Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... |
ORPHA:52368 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
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Hypoglycemia |
ORPHA:35701 |
Deafness, Autosomal Dominant 80 |
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Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Deafness, Autosomal Recessive 109 |
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Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Deafness, X-Linked 2 |
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Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Bor Syndrome |
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Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... |
ORPHA:107 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia, Ataxia |
OMIM:618970 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Pendred Syndrome |
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Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Essential Fructosuria |
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Hyperglycemia |
ORPHA:2056 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus, Unsteady gait |
OMIM:520000 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hand tremor, Gait disturbance, Hyperglycemia |
OMIM:604484 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Transient Neonatal Diabetes Mellitus |
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Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Acrocraniofacial Dysostosis |
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Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Lethargy, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Branchiootorenal Syndrome 1 |
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Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Otofaciocervical Syndrome 1 |
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Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Warsaw Breakage Syndrome |
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Optic disc coloboma, Cupped ear, Hearing impairment, Hypoplasia of the cochlea |
OMIM:613398 |
Stiff Person Spectrum Disorder |
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Diabetes mellitus, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
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 8, With Exocrine Dysfunction |
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Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... |
OMIM:619260 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... |
ORPHA:1435 |
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 |
Distal Monosomy 10Q |
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Cochlear malformation, Morphological abnormality of the vestibule of the inner ear, Abnormality o... |
ORPHA:96148 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... |
OMIM:604367 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Sensorineural hearing impairment, Incomplete partition of the cochlea type II |
OMIM:617660 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Lipodystrophy, Familial Partial, Type 1 |
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Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Mody |
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Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Familial Renal Glucosuria |
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Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Tremor |
OMIM:619737 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Arthrogryposis, Distal, Type 2A |
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Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Infantile Krabbe Disease |
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Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Prolonged brainstem... |
ORPHA:206436 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Schinzel-Giedion Syndrome |
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Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Low-set ears, Aganglionic ... |
ORPHA:798 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Cockayne Syndrome Type 1 |
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Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Greig Cephalopolysyndactyly Syndrome |
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Hyperglycemia |
OMIM:175700 |
Trisomy 10P |
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Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor... |
ORPHA:171929 |
Stiff-Person Syndrome |
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Diabetes mellitus, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Donohue Syndrome |
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Hyperglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:246200 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes mellitus, Glycosu... |
ORPHA:2298 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Norrie Disease |
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Macrotia, Sensorineural hearing impairment, Cerebral cortical atrophy, Optic atrophy, EEG abnorma... |
ORPHA:649 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Inability to walk |
OMIM:609541 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Lethargy, Abnormal glucose homeostasis |
ORPHA:391673 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Gait ataxia, Exaggerated startle response, Truncal titubation, Dysmetria, Tremor |
OMIM:618056 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk |
OMIM:620114 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... |
ORPHA:909 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Short Syndrome |
|
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hyperglycemia, Diabetes mellitus, Lethargy |
ORPHA:465508 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Fanconi-Bickel Syndrome |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyperglycemia, Fasting hy... |
ORPHA:2088 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia, Broad-based gait, Ataxia |
ORPHA:438216 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Meier-Gorlin Syndrome 1 |
|
Incomplete partition of the cochlea type II, Microtia, Low-set ears, Hearing impairment, Atresia ... |
OMIM:224690 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Ataxia |
ORPHA:134 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk |
OMIM:617864 |
Pyruvate Carboxylase Deficiency |
|
Tip-toe gait, Ataxia, Hypoglycemia, Tremor, Hyperglycemia, Dystonia |
ORPHA:3008 |
Tay-Sachs Disease |
|
Exaggerated startle response, Inability to walk, Gait disturbance, Dysmetria, Tremor, Laryngeal d... |
ORPHA:845 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia |
ORPHA:90065 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Floating-Harbor Syndrome |
|
Low-set ears, Conductive hearing impairment, Cochlear malformation |
ORPHA:2044 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia |
OMIM:268800 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Ataxia |
ORPHA:99885 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Postprandial hyperglycemia... |
ORPHA:769 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperglycemia, Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Impaired glucose tolerance |
OMIM:248370 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hyperglycemia, Hypoglycemia, Recurrent hypoglycemia, Ataxia |
OMIM:124000 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Scorpion Envenomation |
|
Hyperglycemia, Tremor, Glycosuria, Ataxia |
ORPHA:466677 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Truncal ataxia, Ataxia, Dysmetria, Tremor, Hypoglycemia, Hyperglycemia, Dystonia |
OMIM:220111 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Thyrotoxic Periodic Paralysis |
|
Tremor, Postprandial hyperglycemia |
ORPHA:79102 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Insulin-resistant dia... |
ORPHA:79474 |
Leprechaunism |
|
Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Postprandial hyperglycemi... |
ORPHA:508 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Broad-based gait, Inability to walk |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |