Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Cognitive impairment, Increased resting energy expenditure, Attention deficit h... |
ORPHA:369873 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia, Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Seizure, Clonic seizure, Agitation, Tonic seizure, Bilateral tonic-clonic seizure,... |
OMIM:619970 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Aggressive behavior, Polyphagia, Hyperglycemia, Obesity |
ORPHA:329249 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms |
OMIM:619964 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H... |
ORPHA:411593 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Type I diabetes mellitus, ... |
ORPHA:276575 |
Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... |
OMIM:300088 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Small for gestational age, Focal-onset ... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic se... |
OMIM:615006 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus |
ORPHA:22 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... |
OMIM:616461 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hyperactivity, Impulsivity, Bilateral tonic-clonic seizure, Attention deficit ... |
OMIM:617113 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Decreased response to growth hormone stimulation test, Emotional lability, D... |
OMIM:614963 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:617863 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... |
ORPHA:97279 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Bilateral tonic-clonic seizure |
OMIM:617709 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Seizure, Large for gestational age, Truncal obesity |
OMIM:240900 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:613721 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ... |
ORPHA:179494 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Restlessness, Focal impaired awareness seizure |
OMIM:610003 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus, Agitation |
OMIM:617171 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Hypera... |
ORPHA:101039 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Convulsive status epil... |
OMIM:617389 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Decreased seru... |
ORPHA:314811 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Type II diabetes mellitus, Reduced... |
OMIM:604367 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure |
OMIM:611630 |
Dystonia 31 |
|
Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Dysphagia, Arm dystonia,... |
OMIM:619565 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Diminished motivation, Emotional blunting, Apathy, Polyphagia, Disinhibi... |
OMIM:172700 |
Frontotemporal Dementia |
|
Frontotemporal dementia, Diminished motivation, Frontal lobe dementia, Apathy, Dementia, Polyphag... |
OMIM:600274 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:616056 |
Chronic Hiccup |
|
Abnormal eating behavior, Weight loss, Dehydration |
ORPHA:396 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Seizure, Large for gestational age |
ORPHA:356996 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Focal impaired awareness seizure, Bilatera... |
OMIM:615400 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:619639 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistant diabetes mellitu... |
ORPHA:280356 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Epilepsy, Pyridoxine-Dependent |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Clonic seizure |
OMIM:266100 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Seizure |
OMIM:300271 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... |
ORPHA:254516 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Myoclonus, Seizure, Bilateral tonic-clonic seizure |
OMIM:162350 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Lipoatrophy |
ORPHA:79084 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Clonic seizure, Bilateral t... |
OMIM:619605 |
Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... |
OMIM:254770 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
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 |
Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... |
OMIM:615369 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... |
ORPHA:181393 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Focal impaired a... |
OMIM:607745 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Generalized tonic seizure, Focal-onset seizure, Generalized myoclonic seizure, Myo... |
ORPHA:2382 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure |
OMIM:117100 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... |
OMIM:612691 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
OMIM:618357 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616187 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
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 Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure |
OMIM:618924 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
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 |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, Focal motor seizure |
OMIM:608105 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus, Failure to thrive |
OMIM:617082 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... |
ORPHA:552 |
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 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia, Seizure |
ORPHA:411515 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Atte... |
OMIM:617935 |
Huntington Disease |
|
Memory impairment, Aggressive behavior, Weight loss, Suicidal ideation, Anxiety, Choking episodes... |
ORPHA:399 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... |
ORPHA:65683 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Act... |
OMIM:616540 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hyperactivity, Cognitive impairment, Reduced intraabdominal adipose tissue, Red... |
ORPHA:363400 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Hyperactivity, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, F... |
OMIM:620145 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:616685 |
Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Short stature, Iris hypopigmentation, Hypopigmentation of hair, Pol... |
ORPHA:177910 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infantile spasms, Epilepti... |
OMIM:616139 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:208441 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Myoclonic status ... |
OMIM:611726 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:613608 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... |
OMIM:617831 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Seizure |
ORPHA:436151 |
Chromosome 22Q13 Duplication Syndrome |
|
Status epilepticus, Bilateral tonic-clonic seizure, Impulsivity, Attention deficit hyperactivity ... |
OMIM:615538 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608636 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Status epilepticus... |
OMIM:616645 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Developmental And Epileptic Encephalopathy 59 |
|
Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness sei... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, Flexion contracture, Focal tonic seizure, Tonic seizure, Bilateral tonic-cloni... |
OMIM:617106 |
Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Attention defici... |
OMIM:619157 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Anxiety |
OMIM:618970 |
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 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Lipodystrophy, Diabetes m... |
OMIM:615980 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Generalized myoclonic-atonic seizure, Status epilepticus, Failure to thrive, Bilateral tonic-clon... |
OMIM:619701 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Hyperactivity, Seizure, Focal motor seizure, Non-convulsive status ep... |
ORPHA:98818 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... |
ORPHA:1941 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... |
OMIM:618587 |
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 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Generalized myoclonic s... |
ORPHA:86909 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... |
OMIM:608096 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Generalized hypotonia, Failure to thrive, Dysphagia, Dehydration, Intrauterine growth retardation |
OMIM:618958 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Deja vu aura, Focal aware seizure, Simple febrile seizure, Bilateral tonic-c... |
ORPHA:98820 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Status epilepticus without prominent mot... |
ORPHA:363549 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Lipodystrophy, Diabetes mellitus, Genera... |
OMIM:612526 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... |
OMIM:605021 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt... |
ORPHA:314802 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder |
OMIM:619191 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Obesity, Insulin resistance |
OMIM:615703 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Seizure, Camptodactyly, Impulsivity, Polyphagia, Obesity, Failure to thrive ... |
OMIM:615547 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased... |
ORPHA:79085 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... |
OMIM:606407 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Glucose intoleran... |
ORPHA:2298 |
Developmental And Epileptic Encephalopathy 52 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... |
OMIM:617350 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... |
OMIM:614018 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Hyperactivity, Seizure, Increased serum serotonin |
ORPHA:85288 |
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 |
Salt And Pepper Developmental Regression Syndrome |
|
Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus |
OMIM:609056 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Dysphagia |
OMIM:617862 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Atonic sei... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... |
OMIM:620115 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure |
ORPHA:163721 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Developmental And Epileptic Encephalopathy 99 |
|
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... |
OMIM:619606 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:615697 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
OMIM:618141 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Seizure, Failure to thrive, Bilateral tonic-clonic seiz... |
OMIM:604317 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:301076 |
Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Enamel hypoplasia, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... |
OMIM:226750 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Seizure |
ORPHA:436141 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-... |
ORPHA:330050 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Tonic seizure, Bilateral ton... |
OMIM:617711 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus |
OMIM:615362 |
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 |
Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, Generalized myo... |
OMIM:617976 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Seizure |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure |
OMIM:254800 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia, Seizure |
OMIM:618774 |
Lissencephaly 3 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure |
OMIM:611603 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Memory impairment, Hypergonadotropic hypogonadism |
OMIM:619737 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hyperglycemia, Severe fai... |
OMIM:246200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:619301 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Flexion contracture, Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:616281 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Neonatal hypog... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... |
OMIM:151660 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dystonia, Axial hypotonia, Dehydration |
ORPHA:289504 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure |
OMIM:617290 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Seizure |
OMIM:615987 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight, Seizure |
OMIM:620065 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, Status epilepticus, Inguinal hernia, Bilateral tonic-clonic seizure, Focal impaired awar... |
OMIM:613970 |
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 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... |
OMIM:619317 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Decreased adipose tissue around neck, Loss of facial adipo... |
OMIM:608612 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Bilateral tonic-clonic seizure, Flexion contracture |
OMIM:618237 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614322 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... |
OMIM:262400 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic s... |
OMIM:618497 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus |
OMIM:616230 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:619302 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awarenes... |
OMIM:615859 |
Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... |
OMIM:613855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy |
OMIM:619065 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Seizure, Hernia of the abdominal wall |
ORPHA:3055 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... |
OMIM:616834 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Myoclonus |
OMIM:301020 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Seizure |
OMIM:300872 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Hyperactivity, Generalized myoclonic seizure, Tonic seizure |
OMIM:618090 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Increased adipose tissue ... |
ORPHA:2457 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hypotonia, Dehydration |
ORPHA:28 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss, Dehydration |
ORPHA:178029 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Insulin resistance, A... |
ORPHA:528 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Multifocal seizures |
OMIM:616981 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... |
OMIM:262700 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Failure to thrive, Hypotonia, Dehydration, Dystonia |
ORPHA:79312 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:271980 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Hypotonia, Dehydration |
ORPHA:79159 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Psychomotor deterioration, Failure to thrive, Hypogl... |
ORPHA:79237 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hyperactivity, Short stature, Small for gestational age, Failure to thrive, Hypoc... |
OMIM:610883 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Small f... |
ORPHA:289266 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Aminoacylase 1 Deficiency |
|
Bilateral tonic-clonic seizure, Hyperactivity, Seizure |
OMIM:609924 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Impulsivit... |
OMIM:301008 |
Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... |
ORPHA:263516 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Synophrys, Ataxia, Hypotonia, Polyphagia, Growth delay, Highly arch... |
ORPHA:228402 |
Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Seizure, Tall stature |
OMIM:300942 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Irritability |
ORPHA:2089 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis, Generalized hypotonia, Torsion dy... |
OMIM:128100 |
Man1B1-Cdg |
|
Polyphagia, Seizure, Truncal obesity |
ORPHA:397941 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms... |
OMIM:619616 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Postnatal growth retar... |
OMIM:616113 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Obesity, Generalized n... |
OMIM:619854 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Infantile spasms, Bilateral tonic-clonic seizure |
OMIM:618470 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Flexion contracture, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonu... |
ORPHA:2590 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Long eyelashes, Failure to thrive, Dehydration |
OMIM:616069 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decrease... |
OMIM:615238 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Seizure, Myoclonus, Focal tonic seizure, Inguinal hernia, Bilateral tonic-clonic s... |
ORPHA:485350 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Seizure, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus |
OMIM:617507 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity, Polyphagia, Seizure |
OMIM:616831 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure, Decreased body weight |
OMIM:614559 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus |
OMIM:204200 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Seizure |
ORPHA:2139 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... |
ORPHA:525731 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Hartnup Disorder |
|
Hyperactivity, Generalized tonic seizure, Attention deficit hyperactivity disorder, Seizure |
OMIM:234500 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... |
ORPHA:231144 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, Elbow flex... |
OMIM:617468 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase |
OMIM:604484 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Growth delay, Hypocholes... |
OMIM:246700 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure with focal onset, Focal emotional seizure with laughing, Generaliz... |
OMIM:619881 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity, Seizure |
OMIM:300577 |
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 41 |
|
Myoclonic seizure, Flexion contracture, Generalized tonic seizure, Focal tonic seizure, Myoclonic... |
OMIM:617105 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Hyperactivity, Eyelid myoclonus, Tonic seizure, Bilateral tonic-clonic seizure... |
OMIM:619913 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Myoclonus, Polyphagia, Obesity, Abnormal dental enamel morphology |
ORPHA:251004 |
Developmental And Epileptic Encephalopathy 66 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized tonic seizure, Se... |
OMIM:618067 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Decreased serum leptin, Decreased adi... |
ORPHA:435651 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hyperglycemia, Umbilical he... |
OMIM:175700 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor, Dysphagia, Dystonia |
OMIM:304700 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Cachexia, Dysphagia |
OMIM:618093 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Seizure |
OMIM:613402 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Decreased LDL cholesterol concentration, Decreased body weight, Short stature... |
ORPHA:96180 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Steatorrhea, Abnormal blood ion concentration, Failure to th... |
ORPHA:95427 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Hyperactivity, Myoclonus, Bilateral tonic-clonic seizure, Attention deficit hy... |
OMIM:617600 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adi... |
OMIM:615381 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Failure to thrive, Hypotonia, Mottled pigmentation of photoexposed areas, Dehydration, Pi... |
OMIM:560000 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Cognitive impairment, Hypopituitarism, Progressive neurologic deterioration, Hype... |
ORPHA:90065 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypotonia, Weight loss, Dehydration |
OMIM:143880 |
Rasmussen Subacute Encephalitis |
|
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Epilepsia partialis continua, Gen... |
ORPHA:1929 |
Familial Cold Urticaria |
|
Dysesthesia, Polydipsia, Dehydration |
ORPHA:47045 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Bulimia, Dela... |
ORPHA:398073 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Seizure, Agitation, Bilateral tonic-clonic seizure, Restlessness, Generalized non-... |
OMIM:300558 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia, Fatigable weakness of respiratory muscles, Mi... |
ORPHA:681 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Seizure |
OMIM:617933 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Impaired glucose toleranc... |
OMIM:248370 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Dysphagia |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 106 |
|
Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:620028 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:269700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Cognitive impairment, Precocious puberty, Hypogonadi... |
ORPHA:398069 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy... |
ORPHA:73272 |
Hyperlysinemia, Type I |
|
Hyperactivity, Seizure |
OMIM:238700 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence... |
OMIM:617810 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Spasticity, Weight loss, Attention deficit hyperactivity disorder, Dysphagia,... |
ORPHA:216866 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Infantile spasms, Bilateral tonic-clonic seizure, Seizure |
ORPHA:250972 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Progressive neurologic deterioration |
OMIM:615453 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Spasticity, Rhizomelia, Choreoathetosis, Ataxia, Hypotonia, Tremor, Growth delay,... |
OMIM:616271 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Seizure |
ORPHA:217377 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Overgrowth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:300607 |
Glycine Encephalopathy |
|
Hyperactivity, Seizure, Myoclonus, Impulsivity, Restlessness |
OMIM:605899 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Apathy, Diabetes mellitus, Testicular atrophy, Increased circulating... |
ORPHA:465508 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Infantile spasms, Hyperactivity, Seizure |
OMIM:619031 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Clonic seizur... |
OMIM:618917 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Angelman Syndrome |
|
Hyperactivity, Seizure, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Atonic seiz... |
ORPHA:72 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:33355 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal motor seizure, Simple febrile sei... |
ORPHA:268947 |
Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Myoclonus, Bilateral toni... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 47 |
|
Focal-onset seizure, Status epilepticus, Agitation, Tonic seizure, Bilateral tonic-clonic seizure |
OMIM:617166 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hypotonia, Choreoathetosis, Ataxia, Dehydration |
ORPHA:27 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Apathy, Agitation, Polyphagia, Disinhibition, Memory impairment, Progres... |
OMIM:607485 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder, Seizure |
OMIM:618725 |
Foxg1 Syndrome |
|
Decreased body weight, Focal-onset seizure, Myoclonus, Status epilepticus, Bilateral tonic-clonic... |
ORPHA:561854 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Lipodystrophy, Diabetes mellitus, Loss of subcutaneous adipose ti... |
ORPHA:2348 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Infantile muscular hypotonia, Titubation... |
ORPHA:225147 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Insulin resistance, Diabetes mellitus, Loss of subcutaneous adipose tissue in ... |
ORPHA:79083 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Generalized hypotonia, Postnatal growth retardation, Dehydration |
ORPHA:556030 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Attention defi... |
OMIM:619827 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Abnormal posturing, Weight loss, Generalized hypotonia, Dysmetria, Restlessness |
ORPHA:157941 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:726 |
Propionic Acidemia |
|
Limb hypertonia, Short stature, Failure to thrive, Axial hypotonia, Dehydration, Dystonia |
OMIM:606054 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... |
OMIM:610539 |
11P15.4 Microduplication Syndrome |
|
Obesity, Seizure |
ORPHA:300305 |
Developmental And Epileptic Encephalopathy 79 |
|
Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Tonic seizure, Bilateral... |
OMIM:618559 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Spasticity, Weight loss, Ataxia, Agitation, Edema, Hypotonia, Dehydration |
ORPHA:134 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Hypoglycemia, Hypophosphatemic rickets, Recurrent hypoglycemia, Hypoinsulinemia, Red... |
ORPHA:2126 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Obesity, Focal myoclonic ... |
ORPHA:464282 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... |
OMIM:618156 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating h... |
ORPHA:95716 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated circulating creatine kinase c... |
OMIM:613327 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity |
OMIM:618160 |
Spastic Ataxia 5, Autosomal Recessive |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus, Dysphagia |
OMIM:614487 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:488635 |
Hyperprolinemia, Type I |
|
Hyperactivity, Status epilepticus, Seizure |
OMIM:239500 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Bilateral tonic-clonic seizure with focal onset, Generalized non-motor (absence) seizure, Focal-o... |
OMIM:618354 |
Gangliocytoma |
|
Adrenocorticotropic hormone excess, Focal-onset seizure, Pituitary null cell adenoma, Abnormal pr... |
ORPHA:251937 |
Short Syndrome |
|
Weight loss, Insulin resistance, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dent... |
ORPHA:3163 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hypotonia, Generalized hypotonia, Dehydration |
OMIM:212140 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, I... |
ORPHA:280365 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Foot joint contracture |
ORPHA:457205 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Growth delay, Dehydration |
OMIM:602722 |
Trisomy 18P |
|
Short stature, Attention deficit hyperactivity disorder, Polyphagia, Neonatal hypotonia, Highly a... |
ORPHA:1715 |
Alternating Hemiplegia Of Childhood |
|
Chorea, Rigidity, Thin eyebrow, Choreoathetosis, Ataxia, Failure to thrive, Impulsivity, Hypotoni... |
ORPHA:2131 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hyperglycinemia, Hypothermia, Hypertaurinemia, Failure to thrive, Hypoglycemia, Growth delay, Neo... |
OMIM:245400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:300423 |
Netherton Syndrome |
|
Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Short statu... |
ORPHA:634 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Simple febrile seizu... |
ORPHA:352582 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Shor... |
OMIM:176270 |
Cystinosis |
|
Short stature, Failure to thrive, Delayed puberty, Dehydration, Polydipsia |
ORPHA:213 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Convulsive status epilepticus |
OMIM:618760 |
Pancreatic And Cerebellar Agenesis |
|
Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Failur... |
OMIM:609069 |
Weaver Syndrome |
|
Seizure, Joint contracture of the hand, Generalized non-motor (absence) seizure, Camptodactyly, O... |
OMIM:277590 |
Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s... |
ORPHA:79444 |
Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia, Lethargy, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
Nephronophthisis 15 |
|
Obesity, Seizure |
OMIM:614845 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus, Dysphagia |
ORPHA:313772 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Flexion contracture, Seizure, Inguinal hernia, Failure to thrive, Bilateral tonic-clonic seizure,... |
ORPHA:544503 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Spasticity, Dehydration |
OMIM:251120 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Seizure, Large for gestational age, Agitation |
OMIM:616116 |
Wagro Syndrome |
|
Aggressive behavior, Agitation, Emotional lability, Polyphagia, Anxiety, Low frustration toleranc... |
OMIM:612469 |
Primary Lipodystrophy |
|
Lipodystrophy, Type II diabetes mellitus, Insulin resistance, Lipoatrophy |
ORPHA:90970 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Ataxia, Failure to thrive, Hypocho... |
OMIM:266510 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus, Hiatus hernia |
OMIM:614618 |
Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clo... |
OMIM:612164 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Seizure |
OMIM:274270 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s... |
ORPHA:79443 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin resistance, Generalized lipodystrophy, Panniculitis, Insulin-resistant ... |
ORPHA:79086 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Dk1-Cdg |
|
Seizure, Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:91131 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Small for gestational age, Adrenal insufficiency, Adrenocort... |
OMIM:307030 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Weight loss, Dehydration |
ORPHA:103910 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Generalized hypotonia, Oligohydramnios, Failure to thrive, Hypotonia, ... |
OMIM:208085 |
X-Linked Intellectual Disability, Hedera Type |
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Bilateral tonic-clonic seizure, Obesity, Atonic seizure |
ORPHA:93952 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Dys... |
OMIM:618325 |
Behavioral Variant Of Frontotemporal Dementia |
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Bilateral tonic-clonic seizure, Disinhibition, Restlessness |
ORPHA:275864 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
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Pica, Seizure, Overweight, Tall stature |
OMIM:615032 |
Rett Syndrome |
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Increased serum leptin, Inability to walk, Gait disturbance, Agitation, Failure to thrive, Hypera... |
ORPHA:778 |
Placental Insufficiency |
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Small for gestational age, Insulin resistance |
ORPHA:439167 |
Cln3 Disease |
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Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Dysphagia, Incre... |
ORPHA:228346 |
D-2-Hydroxyglutaric Aciduria 1 |
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Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:600721 |
Insulin-Like Growth Factor I Deficiency |
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Hyperactivity, Decreased body weight, Short stature, Intrauterine growth retardation, Postnatal g... |
OMIM:608747 |
Corticosterone Methyloxidase Type I Deficiency |
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Failure to thrive, Growth delay, Dehydration |
OMIM:203400 |
Sulfite Oxidase Deficiency, Isolated |
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Bilateral tonic-clonic seizure, Agitation |
OMIM:272300 |
Mehmo Syndrome |
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Obesity, Seizure, Agitation |
ORPHA:85282 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myoclonic seizure, Cortical myoclonus, Hyperactivity, Typical absence seizure, Seizure, Focal-ons... |
ORPHA:168491 |
Lamellar Ichthyosis |
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Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nail, Dehydration, Sparse hair |
ORPHA:313 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:619877 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Seizure, Bilateral tonic-clonic seizure, Dysphagia, Atypical absence seizure, Bilateral tonic-clo... |
ORPHA:98795 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... |
OMIM:618170 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Failure to thrive, Hypotonia, Generalized hypotonia, Dehydration |
OMIM:251000 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder, Seizure |
OMIM:619927 |
Coenzyme Q10 Deficiency, Primary, 3 |
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