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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71526
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Obesity, Polyphagia, Glucose intolerance ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Seizure OMIM:613886
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
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
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276575
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
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
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:245570
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Anxiety, Pituitary prolactin c... ORPHA:97279
Leptin Receptor Deficiency
Delayed puberty, Obesity, Aggressive behavior, Abnormal eating behavior, Decreased response to gr... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... ORPHA:171706
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:617600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Seizure, Truncal obesity OMIM:240900
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Hyperactivity, Generalized myo... ORPHA:101039
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Growth delay, Short stature, Dec... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Pseudobulbar paralysis OMIM:300388
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Obesity, Adrenal hypoplasi... OMIM:609734
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Chronic Hiccup
Dehydration, Abnormal eating behavior, Weight loss ORPHA:396
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Dysphagia, Abnormal posturing, Writer'... OMIM:619565
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity OMIM:616521
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Short stature, Precocious puberty, Po... ORPHA:254516
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Pick Disease Of Brain
Emotional blunting, Apathy, Irritability, Polyphagia, Frontotemporal dementia, Diminished motivation OMIM:172700
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipose tissue, Hyperins... ORPHA:280356
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity, Adrenocortical adenoma OMIM:248100
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Truncal obesity, Failure to thrive, Diabete... ORPHA:181393
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure, Contractures of the large joints OMIM:608278
Frontotemporal Dementia
Apathy, Irritability, Polyphagia, Frontal lobe dementia, Frontotemporal dementia, Diminished moti... OMIM:600274
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Seizure ORPHA:356996
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized myoclonic seizure... OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-ons... ORPHA:2382
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Seizure ORPHA:411515
Mody
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure ORPHA:208441
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Neonatal hypotonia, Short statur... ORPHA:177910
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... OMIM:618858
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:619639
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... ORPHA:101071
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Status epilepticus OMIM:609056
Graves Disease, Susceptibility To, 1
Graves disease, Hyperactivity, Polyphagia, Goiter, Weight loss OMIM:275000
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Huntington Disease
Suicidal ideation, Choking episodes, Memory impairment, Anxiety, Oral-pharyngeal dysphagia, Menta... ORPHA:399
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:606176
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue... ORPHA:363400
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia OMIM:618970
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, S... OMIM:616645
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Insulin resistance, Elevated circulating creatine kinase concentration, Diabetes m... OMIM:615980
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Decreased serum l... ORPHA:435660
Yoon-Bellen Neurodevelopmental Syndrome
Generalized myoclonic-atonic seizure, Failure to thrive, Bilateral tonic-clonic seizure, Infantil... OMIM:619701
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Generalized hypotonia, Failure to thrive, Dysphagia, Dehydration OMIM:618958
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Seizure OMIM:617796
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue... OMIM:612526
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasting hypoglycemia, Hy... ORPHA:2298
Landau-Kleffner Syndrome
Attention deficit hyperactivity disorder, Atypical absence seizure, Hyperactivity, Focal myocloni... ORPHA:98818
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Flexion contracture, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:616281
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, P... OMIM:615547
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Morbid Obesity And Spermatogenic Failure
Obesity, Insulin resistance, Type II diabetes mellitus OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin lev... ORPHA:79085
Hyperlysinemia, Type I
Hyperactivity, Seizure OMIM:238700
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Delayed ... ORPHA:314802
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163721
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Oral-pharyngeal... ORPHA:178469
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure OMIM:615493
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia, Hypergonadotropic hypogonadism, Failure to thrive, Polyphagi... OMIM:606407
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Failure to thrive, Edema, Long eyelashes OMIM:616069
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Seizure, St... ORPHA:330050
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Seizure, Small for gestational age ORPHA:85288
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... ORPHA:36387
Cebalid Syndrome
Polyphagia, Seizure, Congenital diaphragmatic hernia OMIM:618774
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Decreased adipose tissue ar... OMIM:608612
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Seizure ORPHA:436141
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Failure to thrive in infancy, Myoclonus OMIM:619065
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose tissue loss, S... OMIM:246200
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Oral-pharyngeal dysphagia, Generaliz... ORPHA:208447
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms, Focal-onset seizure OMIM:619301
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity disorder OMIM:619191
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Growth delay, Hypotonia ORPHA:163690
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Increased facial ad... OMIM:151660
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Combined Malonic And Methylmalonic Acidemia
Dehydration, Failure to thrive, Axial hypotonia, Dystonia ORPHA:289504
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Seizure, Attention deficit hyperactivity disorder OMIM:615538
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Seizure ORPHA:314911
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Seizure OMIM:616657
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms, Focal-onset seizure OMIM:619302
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Failure to thrive, Hypocholesterolemia, D... OMIM:616834
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
Renal Glucosuria
Glycosuria, Polydipsia, Polyphagia OMIM:233100
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Focal-onset seizure, Febrile seizure (within the age range of 3 months... ORPHA:289266
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Seizure ORPHA:3055
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperinsulinemia, Increased facial adipose tissue, Reduced su... OMIM:248370
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Seizure OMIM:617113
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619616
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hype... ORPHA:528
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Failure to thrive, Hypotonia ORPHA:28
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Contractures... ORPHA:2457
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Failure to thrive, Hypotonia, Dehydration ORPHA:79312
Immunodeficiency 8
Hyperactivity OMIM:615401
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Dysphagia, Cachexia OMIM:618093
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Dehydration, Weight loss ORPHA:178029
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Hypotonia ORPHA:79159
Pigmented Nodular Adrenocortical Disease, Primary, 2
Anxiety, Mental deterioration, Primary hypercortisolism, Emotional lability, Paradoxical increase... OMIM:610475
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Ataxia, Generaliz... OMIM:560000
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Tall stature, Seizure, Overgrowth OMIM:300942
Man1B1-Cdg
Polyphagia, Seizure, Truncal obesity ORPHA:397941
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Failure to thrive, Irritability, Postprandial hyperglycemia ORPHA:2089
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Ataxia, Short stature, Postnatal growth retardation, Hypogo... OMIM:616113
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Hyperinsulinemia, Psychomotor deterioration, Failure to ... ORPHA:79237
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Dec... OMIM:615238
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypergly... OMIM:609069
Luscan-Lumish Syndrome
Polyphagia, Obesity, Seizure, Overgrowth OMIM:616831
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Polyphagia, Seizure, Myoclonus ORPHA:251004
Mental Retardation, X-Linked 91
Obesity, Seizure OMIM:300577
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Broad-based gait ORPHA:171829
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:98754
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Oral-pharyngeal dysphagia, Short stature, Failure to t... OMIM:610883
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:98793
Hernández-Aguirre Negrete Syndrome
Obesity, Seizure ORPHA:2139
Clcn4-Related X-Linked Intellectual Disability Syndrome
Inguinal hernia, Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic se... ORPHA:485350
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Chylomicron Retention Disease
Hypotriglyceridemia, Growth delay, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steat... OMIM:246700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:177904
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Spastic gait, Dysmetria, Diabetes insipidus, Decreased body weight, Ataxia,... ORPHA:96180
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:271980
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:177901
Hypercalcemia, Infantile, 1
Generalized hypotonia, Failure to thrive, Hypotonia, Dehydration, Weight loss OMIM:143880
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Growth delay OMIM:251850
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Myoclon... ORPHA:2590
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Foxg1 Syndrome
Decreased body weight, Status epilepticus, Focal-onset seizure, Bilateral tonic-clonic seizure, I... ORPHA:561854
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Small for gestational age, Severe intrauterine growth retardatio... ORPHA:231144
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:618917
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Mildly elevated creatine kinase, Adrenocortical adenom... ORPHA:681
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus ORPHA:726
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Impairment in pers... ORPHA:96369
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Intrauterine growth retardatio... ORPHA:525731
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Seizure ORPHA:228402
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Obesity, Focal myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:464282
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism, Abnormal blood ion concentration, Growth delay, F... ORPHA:95427
Familial Cold Urticaria
Polydipsia, Dysesthesia, Dehydration ORPHA:47045
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous ... ORPHA:435651
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Decreased circulating T4 level, Diabetes m... ORPHA:398073
Angelman Syndrome
Atypical absence seizure, Precocious puberty in females, Atonic seizure, Hyperactivity, Obesity, ... ORPHA:72
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture, Insulin resistance, Diabetes mellitus, Hypogonadism OMIM:615381
Rasmussen Subacute Encephalitis
Attention deficit hyperactivity disorder, Focal sensory seizure with somatosensory features, Repe... ORPHA:1929
Microduplication Xp11.22P11.23 Syndrome
Obesity, Seizure ORPHA:217377
Perlman Syndrome
Inguinal hernia, Femoral hernia, Hyperinsulinemia ORPHA:2849
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Cognitive impairment, Flexion contracture, Premature pubarche, Central hyp... ORPHA:398069
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic seizure, Seizure, Myo... OMIM:610539
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:220111
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Joint contractures involving the joints of the feet ORPHA:457205
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Increased C-peptide level, Insulin r... ORPHA:769
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Decr... ORPHA:465508
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Seizure, Overweight OMIM:615032
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Insulin resistance, Hyperinsulinemia, Decreased circulating I... OMIM:613327
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysphagia, Myoclonus OMIM:614487
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Hyperchlorhidrosis, Isolated
Dehydration, Failure to thrive, Hypernatremic dehydration OMIM:143860
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic... OMIM:612164
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... ORPHA:556037
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Focal-onset seizure, Limb myoclonus, Bilateral tonic-clonic seizur... ORPHA:352582
Gilbert Syndrome
Dehydration OMIM:143500
Familial Renal Glucosuria
Dehydration, Moderate postnatal growth retardation ORPHA:69076
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Reticular Dysgenesis
Dehydration, Failure to thrive, Weight loss ORPHA:33355
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, My... OMIM:618559
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Generalized hypotonia, Hypotonia, Torticollis, Writer's ... OMIM:128100
Early-Onset Familial Hypoaldosteronism
Dehydration, Generalized hypotonia, Failure to thrive, Postnatal growth retardation ORPHA:556030
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Insulin resistance, Lipoatrophy, Diabetes mellitus, Loss of subcutaneo... ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
11P15.4 Microduplication Syndrome
Obesity, Seizure ORPHA:300305
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal impaired awareness seizure, S... ORPHA:382
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Anxiety, Increased... ORPHA:1501
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Insulin-resistant ... ORPHA:79083
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Proportionate short stature, Hypopitui... ORPHA:54595
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Ataxia, Choreoathetosis, Hypotonia ORPHA:27
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Obesity, Atonic seizure ORPHA:93952
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysphagia, Myoclonus ORPHA:313772
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Intrauterine growth retardation, Elbow flexion cont... OMIM:618156
Dk1-Cdg
Focal-onset seizure, Failure to thrive, Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:91131
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Resting tremor, Gait ataxia, Progressive extrapyramidal muscular rigidity, Dysphagia, I... ORPHA:225147
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Cognitive impairment, Memory impairment, Hypopituitarism, Progressive neurologic ... ORPHA:90065
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu... ORPHA:2126
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Seizure, Febrile seizure (within the age... OMIM:301008
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Generalized dystonia, Pigmentary retinopathy, Spasticity, Dysphagia, Weight loss, A... ORPHA:216866
Glycogen Storage Disease Ixa1
Hypoglycemia, Growth delay, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity, Bilateral tonic-clonic seizure, Generalized non-motor (absenc... ORPHA:777
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Hyperinsuline... OMIM:176270
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Abdominal obesity, Decreased i... ORPHA:739
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Dec... ORPHA:280365
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Intrauterine growth retardation, Growth delay, Hyperglycinemia, Failure to thrive, ... OMIM:245400
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Focal motor seizure, Focal impaired awareness se... ORPHA:268947
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms OMIM:619031
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Failure to thrive, Growth delay OMIM:602722
Aminoacylase 1 Deficiency
Hyperactivity, Seizure OMIM:609924
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Failure to thrive, Decreased body weight, Focal-onset seizure OMIM:614559
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Short stature, Sparse ... ORPHA:634
Beta-Ketothiolase Deficiency
Ataxia, Oral aversion, Spasticity, Hypotonia, Dehydration, Edema, Weight loss ORPHA:134
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Hypocalcemic seizures, Pituitary resistance to thyroid hormone, Enamel ... ORPHA:79444
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Flexion contracture, Inguinal hernia, Failure to thrive, Bilateral tonic-clonic seizure, Seizure,... ORPHA:544503
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... OMIM:618170
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Dysphagia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizu... ORPHA:98795
Cystinosis
Dehydration, Failure to thrive, Short stature, Polydipsia, Delayed puberty ORPHA:213
Alternating Hemiplegia Of Childhood
Dystonia, Facial hypotonia, Choreoathetosis, Thin eyebrow, Oral-pharyngeal dysphagia, Ataxia, Fai... ORPHA:2131
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Generalized hypotonia, Failure to thrive, Hypotonia OMIM:251000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal i... OMIM:619428
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Lethargy, Hypothermia OMIM:615026
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure, Overweight ORPHA:457240
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Umbilical hernia, Seizure, Failure to thrive OMIM:169400
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Failure to thrive, Spasticity OMIM:251120
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Growth delay, Lethargy, Short sta... OMIM:307030
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Progressive language deterioration, Apathy, Polyphagia, Frontotemporal dementia OMIM:607485
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Typical a... ORPHA:168491
Primary Lipodystrophy
Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Lipoatrophy ORPHA:90970
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Generalized hypotonia, Failure to thrive, Hypotonia OMIM:208085
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Flexion contracture, Fo... OMIM:619091
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus OMIM:239500
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Seizure, Status epilepticus ORPHA:529665
Propionic Acidemia
Dystonia, Limb hypertonia, Failure to thrive, Short stature, Dehydration OMIM:606054
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Myoclonic spasms, Seizure, Dysphagia ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Febrile seizure (within the age range of 3 months to 6 years) OMIM:156200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes melli... ORPHA:79086
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Hypothyroidism ORPHA:79319
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Infantil... ORPHA:79243
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Coffin-Siris Syndrome 8
Failure to thrive, Seizure, Hyperactivity OMIM:618362
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Weight loss ORPHA:103910
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Generalized hypotonia, Chorea, Weight loss, Abnormal posturing ORPHA:157941
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Failure to thrive, Diabetes mellitus, Postprandial hyperglycemi... ORPHA:2088
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Adrenocorticotropic hormone excess, Primary adrenal insuffici... ORPHA:90793
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... ORPHA:293987
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Failure to thrive, Growth delay OMIM:203400
Nephronophthisis 15
Obesity, Seizure OMIM:614845
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Hypocalcemic seizures, Pituitary resistance to thyroid hormone, Enamel ... ORPHA:79443
Lamellar Ichthyosis
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Short stature, Dehydration, Sparse hair ORPHA:313
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure, Failure to thrive, Dysphagia OMIM:608809
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Distal arthrogryposis, Cachexia, Febrile seizure (within the age ... ORPHA:42
Methylmalonic Aciduria, Cbla Type
Generalized hypotonia, Failure to thrive, Hypotonia, Dehydration, Tremor OMIM:251100
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Flexion contracture, Ataxia, Abnormal subcutaneous fat tissue distribution, Failu... OMIM:212065
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Elevated ci... ORPHA:226313
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Focal impaired awareness seizure, Failure to thrive, Seizure, Bilateral tonic-clonic seizure ORPHA:488613
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Seizure OMIM:618725
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Small for gestational age OMIM:619278
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure, Pseudobulbar paralysis ORPHA:199354
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Seizure, Hyperactivity OMIM:274270
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypertonic dehydration, Short stature OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypertonic dehydration, Short stature OMIM:304800
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Arthrogryposis multi... ORPHA:99885
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Oral-pharyngeal dysphagia, Obesity, Seizure ORPHA:480907
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Cognitive impairment, Insulin resistance, Truncal obesity, Inguinal hernia, Diabe... OMIM:616541
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Seizure, Hyperactivity OMIM:619470
Alg12-Cdg
Hyponatremia, Intrauterine growth retardation, Recurrent hypoglycemia, Abnormal adipose tissue mo... ORPHA:79324
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure OMIM:248510
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Bilateral Polymicrogyria
Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Arthrogryposis mul... ORPHA:268940
Rett Syndrome
Bradykinesia, Inability to walk, Increased serum pyruvate, Increased serum leptin, Failure to thr... ORPHA:778
Glycine Encephalopathy
Hyperactivity, Seizure, Myoclonus OMIM:605899
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, Mildly elevated creatine... ORPHA:71212
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Short stature, Goiter, Umbilical hernia, Hypothermia ORPHA:226292
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Proportionate short stature, Weight loss, Failure to thrive in infancy ORPHA:171876
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Myoclonus OMIM:615924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Generalized myoclonic seizure, Seizure OMIM:618090
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal myoclonic seizure, Polydipsia, Focal impaired awareness seizure, Seizure, Bilateral tonic-c... ORPHA:369929
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Joint contracture of the hand, Hyperactivity, Joint contracture of the... ORPHA:352490
Leprechaunism
Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, Increased circ... ORPHA:508
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Methylmalonic Aciduria, Cblb Type
Dehydration, Generalized hypotonia, Failure to thrive, Hypotonia OMIM:251110
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Inguinal hernia, Focal emotional seizure with laug... ORPHA:79351
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Adrenal Hypoplasia, Congenital
Dehydration, Failure to thrive, Delayed puberty, Hyperpigmentation of the skin OMIM:300200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Generalized myoclonic seizure, Dysphagia, Focal impaired awareness seizure, Bilateral tonic-cloni... ORPHA:1947
Congenital Short Bowel Syndrome
Dehydration, Failure to thrive OMIM:615237
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:364028
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Small for gestational age ORPHA:453510
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy, Hypothermia OMIM:610006
Autosomal Agammaglobulinemia
Dehydration, Failure to thrive ORPHA:33110
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Increased... ORPHA:90673
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Central hypothyroidism, Hyperactivity, Generalized myoclonic seizu... OMIM:300912
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Failure to thrive OMIM:264350
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
7Q11.23 Microduplication Syndrome
Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Polyphagia, Seizure ORPHA:96121
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Increased circulating thyroglobulin level, Lethar... ORPHA:226316
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Truncal obe... OMIM:203800
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Cognitive impairment, Memory impairment, Macronodular adrenal hyperplasia, Neuroendocrine neoplas... ORPHA:189427
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity, Seizure ORPHA:1035
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Febri... ORPHA:3044
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome