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Gene: Htr2c MGI:96281

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
5-hydroxytryptamine (serotonin) receptor 2C
Synonyms:
5HT1c,  Htr1c,  SR1,  5-HT2cR,  5-HT2C receptor

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Htr2c mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Htr2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Bilateral tonic-clonic seizure, Obesity, Atonic seizure ORPHA:93952
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Dys... OMIM:618325
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Disinhibition, Restlessness ORPHA:275864
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Seizure, Overweight, Tall stature OMIM:615032
Rett Syndrome
Increased serum leptin, Inability to walk, Gait disturbance, Agitation, Failure to thrive, Hypera... ORPHA:778
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Cln3 Disease
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Dysphagia, Incre... ORPHA:228346
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms OMIM:600721
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Short stature, Intrauterine growth retardation, Postnatal g... OMIM:608747
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Growth delay, Dehydration OMIM:203400
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Agitation OMIM:272300
Mehmo Syndrome
Obesity, Seizure, Agitation ORPHA:85282
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Hyperactivity, Typical absence seizure, Seizure, Focal-ons... ORPHA:168491
Lamellar Ichthyosis
Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nail, Dehydration, Sparse hair ORPHA:313
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity OMIM:615812
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:619877
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure, Dysphagia, Atypical absence seizure, Bilateral tonic-clo... ORPHA:98795
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Multifocal seiz... OMIM:618170
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypotonia, Generalized hypotonia, Dehydration OMIM:251000
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism, Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:619927
Coenzyme Q10 Deficiency, Primary, 3