| Myoclonic Epilepsy, Progressive |
|
Generalized myoclonic seizure |
OMIM:310370 |
| Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
| Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... |
OMIM:617924 |
| Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
| Spinocerebellar Ataxia Type 4 |
|
Motor deterioration, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioceptio... |
ORPHA:98765 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... |
OMIM:613060 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613863 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
| Epilepsy, Familial Temporal Lobe, 4 |
|
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure |
OMIM:611631 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Jaw pain, Deficit in phonologic short-term memory, Emotional lability, Atte... |
ORPHA:280397 |
| Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
| Basal Ganglia Calcification, Idiopathic, 4 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia, Depression |
OMIM:615007 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... |
OMIM:618482 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
| Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... |
ORPHA:307 |
| Developmental And Epileptic Encephalopathy 19 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... |
OMIM:615744 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Fish odor, Anxiety, Emotional lability, Low self esteem, Depression, Negativ... |
ORPHA:468726 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Inability to walk |
OMIM:620038 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
| Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure |
OMIM:617771 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... |
OMIM:617831 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Chorea, Benign Hereditary |
|
Chorea, Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Decr... |
OMIM:262400 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... |
OMIM:616421 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... |
ORPHA:725 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Neonatal hyp... |
ORPHA:324575 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins... |
ORPHA:276580 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... |
OMIM:619191 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314811 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609253 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... |
OMIM:618587 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem... |
ORPHA:276575 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver |
DECIPHER:47 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... |
OMIM:610947 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... |
ORPHA:2382 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... |
OMIM:617113 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:618141 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Hyperactivity, Delayed speech and language development, Large for gestational age, Br... |
ORPHA:356996 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Focal-onset seizure, Focal sensory seizure, Generalized-onset seizure, Infantile spasms |
OMIM:602066 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure |
OMIM:254800 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired vibration sensation in the lower limbs, Ataxia, Pain insensitivity, Hypercholesterolemia... |
ORPHA:94124 |
| Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Distal sensory impairment, Ataxia, Hypercholesterolemia |
OMIM:607250 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... |
OMIM:614018 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration, Pancy... |
OMIM:617872 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:616409 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... |
ORPHA:139431 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Hypoxemia, Reticulocytosis, Persistence of hem... |
ORPHA:232 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Hypertriglyceridemia, Increased VLDL cholesterol c... |
OMIM:267700 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... |
OMIM:615400 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... |
ORPHA:86909 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
| Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Depression, Mental deterioratio... |
OMIM:605361 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:619157 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... |
ORPHA:36387 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Irritability, Inability to walk |
OMIM:616657 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
| Huntington Disease-Like 1 |
|
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait, Restlessness |
OMIM:603218 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hy... |
ORPHA:276556 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia, Hyperlysinuria, Hyperactivity |
OMIM:238700 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia |
OMIM:614203 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Distal sensory impairme... |
OMIM:208920 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper... |
OMIM:620085 |
| Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance |
OMIM:617885 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
| Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Generalized non-motor (absen... |
OMIM:617665 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epilepticus witho... |
ORPHA:98818 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, I... |
OMIM:246700 |
| Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
| Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus |
ORPHA:86814 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen... |
OMIM:613845 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... |
OMIM:619317 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure |
OMIM:615127 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... |
OMIM:209950 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor |
OMIM:616187 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Myoclonic Epilepsy, Familial Infantile |
|
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... |
OMIM:605021 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, A... |
ORPHA:552 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait |
OMIM:617917 |
| Eosinophilic Gastroenteritis |
|
Anemia, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
ORPHA:2070 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Hypertriglyceridemia, Pancytopenia, Hepatosplenome... |
OMIM:603553 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... |
ORPHA:507 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... |
OMIM:615703 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Frequent falls, Dystonia, Cardiomyopathy |
OMIM:619647 |
| Adiposis Dolorosa |
|
Arthralgia, Chronic pain, Depression, Anxiety, Fatigue |
OMIM:103200 |
| Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Neonatal hypoglycemia, Increased hepatic glyco... |
ORPHA:293964 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Postural tremor, Choreoathetosis, Ataxia, Elevated circulating creat... |
ORPHA:64753 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
| Developmental And Epileptic Encephalopathy 18 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
OMIM:615476 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia |
OMIM:613752 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hyperactivity, Aggressive behavior, Hypertriglyceridemia, Acute hyperammone... |
ORPHA:247585 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... |
ORPHA:2590 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly |
OMIM:619013 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Recurrent singultus, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
| Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Autosomal Dominant Striatal Neurodegeneration |
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Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
| Autosomal Dominant Epilepsy With Auditory Features |
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Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
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Myoclonus, Tremor, Death in childhood, Dystonia, Cardiomyopathy |
OMIM:619651 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
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Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
| Developmental And Epileptic Encephalopathy 109 |
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Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... |
OMIM:620145 |
| Fraxe Intellectual Disability |
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Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Clumsiness, Agit... |
ORPHA:100973 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
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Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... |
OMIM:608105 |
| Lipodystrophy, Familial Partial, Type 3 |
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Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
| Developmental And Epileptic Encephalopathy 91 |
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Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... |
OMIM:617711 |
| Urocanase Deficiency |
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Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Hypoglycemia, Hypogonadism |
OMIM:616113 |
| Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
| Hyperprolinemia, Type I |
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Prolinuria, Hyperactivity, Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperprolinemia, Hyper... |
OMIM:239500 |
| Fish-Eye Disease |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
| Pandas |
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Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Arthralgia, Im... |
ORPHA:66624 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... |
ORPHA:216873 |
| Adult Neuronal Ceroid Lipofuscinosis |
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Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Congenital Enterovirus Infection |
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Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Hyperammonemia, Leukocytosis, T... |
ORPHA:292 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
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Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... |
OMIM:300635 |
| Spastic Paraparesis And Deafness |
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Spastic paraparesis, Tremor |
OMIM:312910 |
| Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Spinocerebellar Ataxia, X-Linked 1 |
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Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
| Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... |
ORPHA:101070 |
| Lipodystrophy, Congenital Generalized, Type 3 |
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Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... |
OMIM:612526 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
| Lipoid Proteinosis Of Urbach And Wiethe |
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Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Irritability, Abnormal hemoglobin, Spl... |
ORPHA:848 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Poor coordinatio... |
OMIM:309548 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
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Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Nephrotic Syndrome, Type 14 |
|
Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Bilateral Generalized Polymicrogyria |
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Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Dravet Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... |
ORPHA:33069 |
| Migraine, Familial Hemiplegic, 1 |
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Seizure, Hemiparesis, Ataxia, Hemiplegia, Tremor |
OMIM:141500 |
| Tremor, Hereditary Essential, 2 |
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Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Developmental And Epileptic Encephalopathy 104 |
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Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Parkinson Disease 19A, Juvenile-Onset |
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Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
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Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
| Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Congenital Dyserythropoietic Anemia Type Iii |
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Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
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