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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
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Obesity,... ORPHA:71529
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:619970
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit... ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Obesity, Motor stereotypy OMIM:613886
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Agitation, Diffuse pancreatic... ORPHA:276575
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Bilateral tonic-clonic seizure, Inflexible adherence to routines, ... OMIM:608636
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:617171
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffu... ORPHA:276556
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se... OMIM:617113
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Aggressive behavior, Bilateral tonic-clonic... OMIM:612691
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:619639
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Polyphagia, Obesity, Focal impaired awareness seizure, S... OMIM:616521
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Emotional lability, Pitui... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 1
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... OMIM:608600
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Insulinoma
Hyperinsulinemia, Transient global amnesia, Neoplasm of the adrenal gland, Increased body weight,... ORPHA:97279
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Polyphagia, Hypogonadism OMIM:614962
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Emotional lability, Hypoplasia of the... ORPHA:179494
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Restlessness, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Chronic Hiccup
Abnormal eating behavior, Weight loss, Dehydration ORPHA:396
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Dysphagia,... OMIM:619565
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Growth delay, Short stature, ... ORPHA:314811
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... OMIM:604367
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
14Q11.2 Microduplication Syndrome
Seizure, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Reduced C-peptide level OMIM:618856
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Seizure, Bilateral tonic-clonic seizure, Foc... ORPHA:208441
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616341
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Polyphagia, ... ORPHA:254516
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure, Self-injur... OMIM:617904
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Hyperactivity, Bilateral tonic-clonic seizure... ORPHA:2382
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:309530
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Seizure, Polyphagia, Obesity, Inappropriate laughter ORPHA:411515
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Huntington Disease
Irritability, Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Memory impairment,... ORPHA:399
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Atte... OMIM:617935
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Dysphagia, Status epilepticus OMIM:620448
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Growth delay, Short stature, Decreased serum insulin-like growth factor 1, Hypog... ORPHA:314802
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Progressive psychomotor deterioration, Hyperactivity... ORPHA:363400
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Failure to... OMIM:620145
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Prader-Willi Syndrome Due To Imprinting Mutation
Neonatal hypotonia, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Short sta... ORPHA:177910
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-c... OMIM:611726
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Hyperactivity, Seizure, Focal motor seizure, Infa... ORPHA:599373
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Atonic sei... ORPHA:382
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Recurrent hand flapping, Dysphagia, Bilateral tonic-clonic seizure OMIM:617862
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... ORPHA:435660
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Recurrent hand flapping, ... OMIM:618141
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Flexion co... OMIM:617106
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus OMIM:613877
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Generalized myoclonic seizur... ORPHA:36387
Schaaf-Yang Syndrome
Seizure, Polyphagia, Camptodactyly, Impulsivity, Obesity, Skin-picking, Flexion contracture, Fail... OMIM:615547
Joubert Syndrome 10
Polyhydramnios, Hirsutism, Decreased body weight, Polyphagia, Frequent temper tantrums, Short sta... OMIM:300804
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, F... OMIM:604317
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Lipodystrophy, Abdominal obesity, Insulin res... OMIM:615980
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Status epilepticus, Generali... OMIM:619701
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Impulsivity, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder... OMIM:615538
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Schizophrenia 15
Hyperactivity OMIM:613950
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Failure to thrive, Dysphagia, Generalized hypotonia, Intrauterine growth retardation OMIM:618958
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... ORPHA:79085
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure, Increased serum serotonin, Small for gestational age ORPHA:85288
Epilepsy, Progressive Myoclonic, 12
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin resistance... OMIM:612526
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Stereotypical hand wring... OMIM:618497
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Polyphagia, Increased... OMIM:620085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Dehydration, Failure to thrive, Dystonia, Hypotonia, Choreoathetosis ORPHA:79312
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased... OMIM:615954
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Stereotypical h... OMIM:619854
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Neonatal hyp... OMIM:606407
Insulin-Resistance Syndrome Type B
Increased body weight, Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, In... ORPHA:2298
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Compulsive behaviors, Tonic seizure, Bilateral tonic-clonic seizure, Stereot... OMIM:618917
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Short stature, Growth delay, General... ORPHA:228402
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Obesity ORPHA:436141
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Stat... ORPHA:330050
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Overweight, Motor stereotypy OMIM:620065
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Inguinal hernia, Hyperactivity, Seizure, Infantile spasm... ORPHA:485350
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Enamel hyp... OMIM:226750
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Cebalid Syndrome
Congenital diaphragmatic hernia, Seizure, Polyphagia OMIM:618774
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Central Diabetes Insipidus
Polydipsia, Anorexia, Dehydration, Failure to thrive, Weight loss ORPHA:178029
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Stereotypical hand wringing... ORPHA:289266
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seizure, Bilateral... OMIM:619827
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Hyperglycemia, Obesity, Memory impairment OMIM:619737
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Combined Malonic And Methylmalonic Acidemia
Axial hypotonia, Failure to thrive, Dystonia, Dehydration ORPHA:289504
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Loss ... OMIM:151660
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thri... OMIM:616281
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Bardet-Biedl Syndrome 10
Seizure, Obesity OMIM:615987
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypoketotic hypogl... ORPHA:263455
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Short stature, Motor... OMIM:610883
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Seizure, Hernia of the abdominal wall, Obesity ORPHA:3055
Luscan-Lumish Syndrome
Seizure, Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Flexion contracture, Bilateral tonic-clonic seizure OMIM:618237
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Seizure, Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awar... OMIM:613970
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Foxg1 Syndrome
Focal-onset seizure, Infantile spasms, Decreased body weight, Bilateral tonic-clonic seizure, Ste... ORPHA:561854
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hyperlipidemia, Failure to thrive in infancy,... OMIM:232700
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration, Hypotonia ORPHA:28
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Autism, Susceptibility To, X-Linked 6
Seizure, Obesity OMIM:300872
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness OMIM:620439
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Short stature, Failure to thrive, Decre... OMIM:616834
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Angelman Syndrome
Generalized myoclonic seizure, Precocious puberty in females, Tongue thrusting, Hyperactivity, Se... ORPHA:72
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Generalized myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
11P15.4 Microduplication Syndrome
Seizure, Obesity, Aggressive behavior ORPHA:300305
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... OMIM:617600
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Increased C-peptide level, Ad... ORPHA:528
Cerebral Creatine Deficiency Syndrome 2
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612736
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Bilateral tonic-clonic seizure, Febril... ORPHA:263516
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Hypotonia ORPHA:79159
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Silver-Russell Syndrome Due To 11P15 Microduplication
Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Failure to t... ORPHA:231144
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Irritability, Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure ORPHA:140927
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short attention span, Failure to thrive, Hypogonadism, Attention deficit hyperacti... ORPHA:73272
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Psychomotor de... ORPHA:79237
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dyst... OMIM:128100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Man1B1-Cdg
Seizure, Truncal obesity, Polyphagia ORPHA:397941
Chromosome Xq26.3 Duplication Syndrome
Seizure, Tall stature, Overgrowth, Polyphagia OMIM:300942
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Self-injurious behavior, Focal-onset seizure, Stereotypical hand w... OMIM:618760
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration, Long eyelashes OMIM:616069
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Lipodystrophy, Familial Partial, Type 5
Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased adiponectin level, Di... OMIM:615238
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... OMIM:610600
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Bilateral tonic-clonic seizure OMIM:609924
Hernández-Aguirre Negrete Syndrome
Seizure, Obesity ORPHA:2139
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Bilateral tonic-clonic seizure, Collectionism, Disi... ORPHA:275864
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Dystonia, Dysphagia OMIM:304700
Intellectual Developmental Disorder, X-Linked 91
Seizure, Obesity OMIM:300577
Hyperprolinemia, Type I
Hyperactivity, Seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Progressive neu... OMIM:214150
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617290
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Unilateral Focal Polymicrogyria
Simple febrile seizure, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure with focal o... ORPHA:268947
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Focal-onset seizure, Decreased body weight, Bilateral tonic-clonic seizure OMIM:614559
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Decreased circulatin... ORPHA:95717
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Seizure, Polyphagia, Obesity, Myoclonus ORPHA:251004
Glycine Encephalopathy 1
Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Hyperactivity,... ORPHA:525731
Severe Canavan Disease
Oral-pharyngeal dysphagia, Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Fatigable weakness of respiratory muscles, Postprandial hyperglycemia, Mi... ORPHA:681
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Camptodactyly, Bilateral tonic-clonic seizu... OMIM:617468
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Self-injurious behavior, Focal impai... OMIM:617493
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Focal tonic seizure, Bilateral tonic-clonic seizur... OMIM:617105
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Hyperactivity, Bilate... OMIM:619913
Spinocerebellar Ataxia 48
Cachexia, Dysphagia, Bilateral tonic-clonic seizure OMIM:618093
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Polyphagia, Central hypothyroidism, Failure to thrive, Growt... ORPHA:95427
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Increased body weight, Compu... ORPHA:398069
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Coffin-Siris Syndrome 8
Inguinal hernia, Hyperactivity, Seizure, Failure to thrive, Self-injurious behavior, Aggressive b... OMIM:618362
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Failure to thrive, Ataxia, Hypotonia, Mottled pigmentation of photoexposed areas, Pi... OMIM:560000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy... OMIM:615381
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Spastic gait, Diabetes insipidus, Decreased body weight, Elevated c... ORPHA:96180
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Attention deficit hyperacti... ORPHA:1945
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Growth delay, Failure to thrive, Decreased LDL cholesterol conc... OMIM:246700
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Agitation, Seizure, Self-injurious behavior, Aggressive behavior OMIM:616116
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Hypotonia, Weight loss OMIM:143880
Familial Cold Urticaria
Polydipsia, Dysesthesia, Dehydration ORPHA:47045
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Seizure, Obesity, Attention deficit hyperactivity disorder OMIM:618725
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Seizure, Generalized tonic seizure OMIM:234500
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Microduplication Xp11.22P11.23 Syndrome
Seizure, Obesity ORPHA:217377
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic s... OMIM:618012
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Generalized dystonia, Spasticity, Opisthotonus, Dysphagia, Weight loss, Atten... ORPHA:216866
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:617836
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Lipody... OMIM:608594
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Myoclonic seizure, Atonic seizure, Bilateral tonic-cloni... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyper... OMIM:619927
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Seizure, Elbow flexion contracture, Motor stereotypy, Aggressive behavior OMIM:619470
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous adipose tissue, Type I... OMIM:269700
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Progressive neurologic deterioration OMIM:615453
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypotonia, Polyhydramnios, Rhizomelia, Spasticity, Tremor, Dehydration, Growth delay, Dy... OMIM:616271
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556037
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas... OMIM:610475
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Inguinal hernia, Bilateral tonic-cl... OMIM:618354
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Frontotemporal dementia, Memory impairment, Polyphagia, Progressive language deteriora... OMIM:607485
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Ataxia, Hypotonia, Dehydration ORPHA:27
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Cognitive impairment, Hypothyroidism, Addictive alcohol use, Hyperglycemia, Pr... ORPHA:90065
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Overgrowth, Tonic seizure, Bilateral tonic-clonic seizure OMIM:300607
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Spasticity, Dehydration, Ataxia, Weight loss, Hypotonia, Edema, Oral aversion ORPHA:134
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Seizure, Recurrent hand flapping, Overweight, Pica OMIM:615032
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Aggressive behavior OMIM:301107
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around t... OMIM:248370
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Facial hypotonia, Chorea, Tremor, Dehydration, Impulsivity, ... ORPHA:2131
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within t... OMIM:618010
Rabson-Mendenhall Syndrome
Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance,... ORPHA:769
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothy... ORPHA:90674
Developmental And Epileptic Encephalopathy 47
Agitation, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617166
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Abnormal circulating... ORPHA:95716
Rett Syndrome
Bradykinesia, Agitation, Difficulty walking, Inability to walk, Increased serum pyruvate, Stereot... ORPHA:778
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Failure to thrive, Dehydration, Generalized hypotonia ORPHA:556030
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Titubat... ORPHA:225147
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance,... ORPHA:79083
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration ORPHA:69076
Propionic Acidemia
Limb hypertonia, Dehydration, Short stature, Failure to thrive, Axial hypotonia, Dystonia OMIM:606054
Huntington Disease-Like 1
Abnormal posturing, Chorea, Gait ataxia, Restlessness, Weight loss, Generalized hypotonia, Dysmetria ORPHA:157941
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Cellulitis, Lipodystrophy, Insulin res... ORPHA:2348
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Lipodyst... OMIM:613327
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Postnatal growth retardati... ORPHA:54595
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Generalized myoclonic seizure, Focal-onset seizure, Typical absence s... ORPHA:168491
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:464282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure, Motor stereotypy, Overweight, Self-mutilation ORPHA:457240
Morm Syndrome
Hyperactivity, Truncal obesity, Aggressive behavior ORPHA:75858
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure, Motor tics OMIM:620688
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Abdominal obesity, Truncal obesity, Short stature OMIM:618160
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Cystinosis
Polydipsia, Delayed puberty, Dehydration, Short stature, Failure to thrive, Motor stereotypy ORPHA:213
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Recurrent hypoglycemia, Weight loss, Hypoglycemia, Red... ORPHA:2126
Netherton Syndrome
Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormal hair morphology, Dehydration, Sparse ... ORPHA:634
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration, Hypotonia, Generalized hypotonia OMIM:212140
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Growth delay, Failure to thrive, Neonatal death, Intrauterine growt... OMIM:245400
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Trisomy 18P
Neonatal hypotonia, Highly arched eyebrow, Polyphagia, Short stature, Attention deficit hyperacti... ORPHA:1715
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Dysphagia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Weaver Syndrome
Generalized non-motor (absence) seizure, Inguinal hernia, Seizure, Overgrowth, Polyphagia, Campto... OMIM:277590
Gangliocytoma
Focal-onset seizure, Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abn... ORPHA:251937
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Dehydration OMIM:602722
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Decreased serum leptin, Increased adip... ORPHA:280365
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Confusion, Failure to thr... ORPHA:71212
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Foot joint contracture ORPHA:457205
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Testicular atrophy, Hypothyroidism, Hyperglycemia, ... ORPHA:465508
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:619877
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Spasticity, Dehydration OMIM:251120
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Myoclonic seizure, Bruxism, Bilateral tonic-clonic seizure OMIM:615716
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure OMIM:617933
Intellectual Developmental Disorder, Autosomal Dominant 1
Seizure, Recurrent hand flapping, Polyphagia, Febrile seizure (within the age range of 3 months t... OMIM:156200
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Obesi... OMIM:612469
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia, Lipodystrophy OMIM:608776
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Nephronophthisis 15
Seizure, Obesity OMIM:614845
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog... OMIM:609069
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Fl... ORPHA:544503
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Myoclonus, Bilateral tonic-clonic seizure, Motor stereotypy, Motor tics, Atte... OMIM:619725
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso... ORPHA:1501
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Dk1-Cdg
Focal-onset seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive ORPHA:91131
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:620655
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Dysphagia, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Failure to thrive, Ataxia, Hypocho... OMIM:266510
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
X-Linked Intellectual Disability, Hedera Type
Obesity, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilateral tonic... ORPHA:98795
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Seizure, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Attention def... ORPHA:64280
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia ORPHA:79319
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Bilateral tonic-clonic... OMIM:612164
Hyperekplexia 3
Bilateral tonic-clonic seizure, Hiatus hernia, Myoclonus OMIM:614618
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Infantile ... OMIM:300912
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... ORPHA:90793
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth... ORPHA:226313
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Panniculitis, Insulin resistance, Insulin-resistant ... ORPHA:79086
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Tremor, Recurrent hand flapping, Compulsive behaviors, Dehydr... ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Weight loss ORPHA:103910
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dysphagia, Focal im... OMIM:618325
N-Acetylglutamate Synthase Deficiency
Anorexia, Hypothermia, Hyperglutamatemia, Hyperalaninemia, Failure to thrive, Hyperammonemia, Low... OMIM:237310
Lamellar Ichthyosis
Abnormality of the nail, Dehydration, Short stature, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Failure to thrive, Dehydration OMIM:203400
Mehmo Syndrome
Seizure, Obesity, Agitation ORPHA:85282
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hypergonadotropic h... OMIM:617872
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Failure to thrive, Generalized hypotonia, Hypotonia, Oligohydramnios, Small for gest... OMIM:208085
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Exa... ORPHA:309246
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Tongue thrusting, Recurrent hand flapping, Tonic seizure, Bilateral tonic-clonic... OMIM:619580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Bilateral tonic-clonic seizure OMIM:618120
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Seizure, Obesity, Aggressive behavior ORPHA:3077
Sulfite Oxidase Deficiency, Isolated
Agitation, Bilateral tonic-clonic seizure OMIM:272300
Adnp Syndrome
Abnormal temper tantrums, Inguinal hernia, Oral-pharyngeal dysphagia, Seizure, Compulsive behavio... ORPHA:404448
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Dysphagia, Motor stereotypy ORPHA:79264
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Seizure, Obesity, Oral-pharyngeal dysphagia, Lipoma ORPHA:480907
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypertonic dehydration, Short stature OMIM:125800
Alg12-Cdg
Abnormal adipose tissue morphology, Camptodactyly, Failure to thrive, Hyponatremia, Recurrent hyp... ORPHA:79324
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Failure to thrive, Diabetes mellitu... ORPHA:2088
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypertonic dehydration, Short stature OMIM:304800
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity... ORPHA:90673
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity OMIM:615812
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
D-2-Hydroxyglutaric Aciduria 1
Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:600721
Werner Syndrome
Lipoatrophy, Thyroid carcinoma, Slender build, Type II diabetes mellitus, Hypogonadism, Lipodystr... ORPHA:902
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Seizure, Increased body weight, Impulsivity ORPHA:589905
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seizure, Motor stereotypy,... ORPHA:98784
Familial Multiple Lipomatosis
Insulin resistance, Increased adipose tissue, Lipodystrophy ORPHA:199276
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Cognitive impairment, Hypothyroidism, Insulin resistance, Diabetes mellitus, Tru... OMIM:616541
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Glycosuria, Failure to thrive, Reduced pancreatic beta cells, Hyper... ORPHA:99885
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin... ORPHA:226316
Pelger-Huet Anomaly
Failure to thrive, Seizure, Bilateral tonic-clonic seizure, Umbilical hernia OMIM:169400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Inappropriat... ORPHA:226307
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Seizure, Polyphagia, Obesity, Co... ORPHA:96121
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Spastic hemiparesis, Spasticity, Dehydration, Ataxia, Weight loss, Hypotonia, Edema ORPHA:20
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Seizure, Polyphagia, Restlessness, Self-mutilation, Aggressive behavior ORPHA:251028
Pyruvate Dehydrogenase E1-Alpha Deficiency
Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Flexion contracture, Small for gestati... ORPHA:79243
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:617182
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hypergonadotropic hypogonadism, Hypot... OMIM:212065
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
Whipple Disease
Polydipsia, Anorexia, Depression, Cachexia, Hypothyroidism, Insulin resistance ORPHA:3452
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Dehydration, Weight loss, Proportionate short stature ORPHA:171876
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Seizure, Class III obesity OMIM:616418
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Aggressive behavior ORPHA:199354
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Slender build, Myoclonus, Status epilepticus, Self-mutil... ORPHA:364028
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... OMIM:617253
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Seizure, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of ... OMIM:618718
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Glucose intolerance, Decreased circulating ACTH concentration, Memory impairment, Depression, Emo... ORPHA:189427
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:619911
Methylmalonic Aciduria, Cbla Type
Tremor, Dehydration, Failure to thrive, Hypotonia, Generalized hypotonia OMIM:251100
Adrenal Hypoplasia, Congenital
Delayed puberty, Failure to thrive, Dehydration, Hyperpigmentation of the skin OMIM:300200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Hyperactivity, Decreased body weight, Short stature, Intrauterine g... OMIM:608747
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Febrile seizure (within the age range of 3 months to 6 years), Distal arthrogryposis, B... ORPHA:42
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure ... OMIM:614736
Congenital Insensitivity To Pain With Severe Intellectual Disability
Self-mutilation, Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
D-Glyceric Aciduria
Focal clonic seizure, Tongue thrusting, Seizure, Bilateral tonic-clonic seizure, Failure to thriv... OMIM:220120
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Recurrent hand flapping, Bruxism, Truncal obesity OMIM:613192
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Bilateral tonic-clonic seizure OMIM:619356
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration, Hypotonia OMIM:251000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Polyphagia, Bilateral tonic-c... OMIM:620330
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration OMIM:264350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Hypoglycemia OMIM:620423
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Decreased body weight, Increased circulating renin level,... ORPHA:508
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Cole Disease
Hyperglycemia OMIM:615522
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Inguinal hernia, Infantile spasms, Bilateral tonic-clonic seizure, Umbilical... OMIM:620504
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic... ORPHA:363558
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, Seizure, Stereotypical hand wringin... ORPHA:163681
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:602579
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Flexion cont... ORPHA:481152
Meningococcal Meningitis
Anorexia, Hypothermia, Elevated circulating C-reactive protein concentration, Increased circulati... ORPHA:33475
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Polyhydramnios, Short stature, Growth delay, Failure to thrive, Hypernatrem... ORPHA:223
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Seizure, Infantile spasms, Tonic seizure, Failure to thrive OMIM:619239
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Enamel hypoplas... OMIM:615802
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Enteric Anendocrinosis
Dehydration ORPHA:83620
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Steppage gait, Hypotriglyceridemia, Broad-b... ORPHA:14
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Hyperactivity, Seizure, Polyphagia, Tonic seizure, Compulsive behaviors,... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms, ... ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Dysphagia, Myoclonus, Motor tics, Aggress... OMIM:616973
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Hypotonia, Growth delay OMIM:614857
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal myoclonic seizure, Seizure, Abnormal circulating renin, Bilateral tonic-clonic ... ORPHA:369929
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attentio... OMIM:620141
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Infantile spasms, Generalized-onset ... ORPHA:268940
Beta-Mercaptolactate Cysteine Disulfiduria
Seizure, Obesity, Umbilical hernia ORPHA:1035
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Sandhoff Disease, Infantile Form
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:309155
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Impaired gluc... OMIM:606721
Wolcott-Rallison Syndrome
Decreased body weight, Dehydration, Ascites, Short stature, Growth delay ORPHA:1667
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Reduced subcutaneous adipose tissue, Glycosuria, Failure to thrive, Postpra... OMIM:227810
Pearson Syndrome
Postnatal growth retardation, Hydrops fetalis, Hyperpigmentation of the skin, Corneal stromal ede... ORPHA:699
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creati... ORPHA:26793
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Inguinal hernia ORPHA:440713
Chylomicron Retention Disease
Growth delay, Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Inguinal... ORPHA:79351
Isovaleric Acidemia
Dehydration OMIM:243500
Renal Hypoplasia
Polydipsia, Dehydration, Small for gestational age ORPHA:93101
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619983
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Seizure, Increased body weight, Self hugging, Motor stereotypy, Onyc... OMIM:182290
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism... OMIM:616113
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Hyperac... ORPHA:1934
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Seizure, Stereotypical hand wringing, Obesity, Skin-picking, Motor stereotypy, Sel... OMIM:600430
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, Dysphagia, Motor stereotypy, Ag... OMIM:619435
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Hypopigmentation of hair, Hypopigmentation of the skin, Dehydration,... OMIM:219800
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, In... OMIM:218700
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:125
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Glass Syndrome
Inguinal hernia, Hyperactivity, Seizure, Camptodactyly, Bilateral tonic-clonic seizure, Frequent ... OMIM:612313
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616672
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Netherton Syndrome
Brittle hair, Sparse scalp hair, Angioedema, Failure to thrive, Brittle scalp hair, Sparse eyebro... OMIM:256500
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Bilateral camptodacty... OMIM:619777
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Nephronophthisis 9
Polydipsia, Postnatal growth retardation OMIM:613824
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration OMIM:143860
X-Linked Intellectual Disability, Shashi Type
Seizure, Obesity ORPHA:85286
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Failure to thrive, Polyhydramnios, Dehydration OMIM:214700
Mitchell-Riley Syndrome
Diabetes mellitus, Hyperglycemia OMIM:615710
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Seizure, Recurrent hand flapping, Obesity, Inappropriate laughter, Dysphagia, A... ORPHA:411511
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration, Hypotonia OMIM:251110
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Seizure, Increased body weight, Aggressive behavior OMIM:300860
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure, Omphalocele OMIM:618316
Neuroleptic Malignant Syndrome
Agitation, Oculogyric crisis, Chorea, Extrapyramidal muscular rigidity, Tremor, Dehydration, Dysp... ORPHA:94093
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Eunuchoid habitus, Febrile seizure (within the age range of 3 mon... ORPHA:3044
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration, Growth delay, Failure to thrive, Ataxia, Hypotonia, Intrauterine gr... ORPHA:79282
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypothermia, Hyperalaninemia OMIM:614654
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Inguinal hernia, Seizure, Bilateral tonic-clonic seizure, Arthrogryposis mul... OMIM:618143
Gitelman Syndrome
Delayed puberty, Polydipsia, Maternal diabetes, Graves disease, Hashimoto thyroiditis, Primary hy... ORPHA:358
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Cloni... OMIM:617281
Infantile Nephropathic Cystinosis
Polydipsia, Dehydration, Growth delay, Failure to thrive, Pigmentary retinopathy ORPHA:411629
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... ORPHA:457351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Large for gestational age, Seizure, Bilateral tonic-clon... OMIM:615398
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Timothy Syndrome
Hypothyroidism, Hypoglycemia, Hypothermia, Hypocalcemia OMIM:601005
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Omphalocele OMIM:614450
Spontaneous Periodic Hypothermia
Hypothermia, Ataxia, Gait disturbance ORPHA:29822
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Oligomeganephronia
Polydipsia, Dehydration, Small for gestational age ORPHA:2260
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hirsutism, Dehydration, Hyperpigmentation of the skin ORPHA:90791
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Decreased circulating ACTH concentration, Hyperuricemia, Hypoglycem... ORPHA:199299
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Hypoketotic hypoglycemia, Decreased circulating carnitine concentration, Fasting hyp... ORPHA:159
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Neonatal death OMIM:618810
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620185
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting OMIM:618314
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Dehydration, Hypotonia OMIM:246450
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, Motor stereotypy, Self-injurious behavior, Generalized tonic seiz... OMIM:616393
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Seizure, Obesity OMIM:610628
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Seizure, Recurrent hand flapping, Obesity, Inappropriate laughte... ORPHA:98794
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Obesity, Hypogonadism, Abdominal obesity, Insulin resistance, Dia... OMIM:209900
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Generalized clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619229
1P36 Deletion Syndrome
Polyphagia, Gait disturbance, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger... ORPHA:1606
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ... OMIM:600001
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Vici Syndrome
Abnormal posturing, Postnatal growth retardation, Hypopigmentation of hair, Hypopigmentation of t... OMIM:242840
Alexander Disease
Hypothermia, Gait disturbance, Hypothyroidism, Failure to thrive, Precocious puberty, Ataxia, Dys... ORPHA:58
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Short stature, Failure to thrive, Growth delay, Flexion cont... OMIM:614008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Depression, Emotional lability, Failure to thrive, Hyperglycemia, Recurrent hypoglycemia, Hypogly... OMIM:124000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Obesity, Dysphag... ORPHA:466950
Warburg Micro Syndrome 3
Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic seizure OMIM:614222
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Seizure, Decreased serum leptin, Lack of facial subcutaneous fat, Fail... OMIM:614098
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Seizure, Recurrent hand flapping, Hypothyroidism, Hypert... ORPHA:449291
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Dy... ORPHA:496641
Osteootohepatoenteric Syndrome
Failure to thrive, Dehydration, Weight loss OMIM:619377
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk OMIM:618557
W Syndrome
Bilateral tonic-clonic seizure, Camptodactyly ORPHA:2804
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure, Arthrogrypos... OMIM:617193
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Distal 16P11.2 Microdeletion Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Neonatal hypotonia, Generalized hypopigmentation, Dehydration, Compulsive behavi... ORPHA:534
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Dubowitz Syndrome
Postnatal growth retardation, Inguinal hernia, Hyperactivity, Short stature, Intrauterine growth ... OMIM:223370
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Inguinal hernia, Seizure, Overgrowth, Failure to thrive, Umbilical her... ORPHA:261652
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Pearson Marrow-Pancreas Syndrome
Anorexia, Hydrops fetalis, Dehydration, Failure to thrive, Small for gestational age OMIM:557000
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Dysphagia, Bilateral tonic-clonic seizure ORPHA:329308
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Seizure, Overweight, Hiatus hernia, Umbilical hernia OMIM:619769
Shigellosis
Anorexia, Failure to thrive in infancy, Dehydration ORPHA:810
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Distal Renal Tubular Acidosis
Polydipsia, Dehydration, Short stature, Failure to thrive, Growth delay ORPHA:18
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Seizure, Large for gestational age, Umbilical hernia OMIM:614520
Aromatase Deficiency
Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II diabetes mellitus, Insulin re... ORPHA:91
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Inability to walk, Elbow flexion contracture, Short stature, Obesity, Hip contractur... OMIM:618493
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hyperbilirubinemia, Growth delay, Failure to thrive, Elevated circulating alpha-feto... OMIM:251880
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Seizure, Impulsivity, Failure to thrive, Sk... ORPHA:500055
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Obesity, Febril... ORPHA:466943
Proximal Renal Tubular Acidosis
Polydipsia, Dehydration, Short stature, Growth delay, Failure to thrive, Mild postnatal growth re... ORPHA:47159
Tatton-Brown-Rahman Syndrome
Seizure, Proportionate tall stature, Obesity, Umbilical hernia, Aggressive behavior ORPHA:404443
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Hypothermia, Inguinal hernia OMIM:614498
Kaufman Oculocerebrofacial Syndrome
Short stature, Failure to thrive, Hypocholesterolemia OMIM:244450
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure... OMIM:614231
Chromosome 1P36 Deletion Syndrome, Distal
Epileptic spasm, Seizure, Infantile spasms, Polyphagia, Camptodactyly, Oppositional defiant disor... OMIM:607872
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:424
Acute Adrenal Insufficiency
Delayed puberty, Hyperkalemia, Anorexia, Hyperuricemia, Adrenal hypoplasia, Androgen insufficienc... ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypoglycemia OMIM:618329
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Polyhydramnios, Dehydration, Short stature, Failure to thrive, Small for gestational ... OMIM:241200
Jaberi-Elahi Syndrome
Failure to thrive, Bilateral tonic-clonic seizure OMIM:617988
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Menkes Disease
Intrauterine growth retardation, Hypothermia, Decreased circulating ceruloplasmin concentration, ... OMIM:309400
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Dehydration, Growth delay ORPHA:411634
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Methylmalonic acidemia, Growth delay, Failure to thrive, Unsteady gait, Flexion cont... ORPHA:17
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Wrist flexion contracture, Bilateral tonic-clonic seizure, Knee flexion contrac... OMIM:618733
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset, Dysphagia, Failure to thrive in infancy... ORPHA:488627
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Webb-Dattani Syndrome
Obesity, Bilateral tonic-clonic seizure OMIM:615926
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Intellectual Developmental Disorder, Autosomal Dominant 54
Bruxism, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awareness seizur... OMIM:617799
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:99819
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Impaired fasting glucose, Abnormality of the endocrine system, E... ORPHA:110
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Compulsive behaviors, Tonic seizure, Bilateral tonic-clonic seizure, Frequent temp... OMIM:619512
Bartter Syndrome Type 4
Polyhydramnios, Severe failure to thrive, Dehydration, Failure to thrive, Hypotonia, Small for ge... ORPHA:89938
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Salt craving, An... ORPHA:85138
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hypoplastic fingernail, Dehydration, Intrauterine growth retardatio... ORPHA:96191
Primary Erythromelalgia
Hypothermia ORPHA:90026
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Seizure, Failure to thrive, Obesity, Motor stereotypy, Attention... ORPHA:261197
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Glycosuria, Hyperglycemia, Restlessness, Increased... ORPHA:466677
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Dehydration, Failure to thrive, Generalized bronze hyperpigmentation, Generalize... ORPHA:168558
Vipoma
Anorexia, Dehydration, Ascites, Weight loss ORPHA:97282
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Dehydration, Failure to thrive, Generalized bronze hyperpigmentation, Generalize... ORPHA:289548
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Abnormality of the nail, Dehydration, Growth delay, Failure to thrive, Anonychia,... ORPHA:79404
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Decreased circulating aldosterone level, Abnormali... ORPHA:320
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration, Inc... OMIM:223360
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Failure to thrive, Hyperglycemia, Dysphagia, Hypoglycemia, Small for gestational... OMIM:220111
Smith-Lemli-Opitz Syndrome
Hyperactivity, Precocious puberty, Failure to thrive, Elevated circulating 7-dehydrocholesterol c... OMIM:270400
Lysosomal Acid Lipase Deficiency
Cachexia, Dehydration, Ascites, Failure to thrive, Weight loss ORPHA:275761
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilateral tonic-c... OMIM:620024
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Small for gestational age, Intra... OMIM:618775
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Head-banging, Seiz... OMIM:620455
Oliver Syndrome
Camptodactyly of finger, Elbow flexion contracture, Bilateral tonic-clonic seizure, Knee flexion ... ORPHA:2920
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Depression, Thyroiditis, Atypical scarring of skin, Hashimoto ... ORPHA:99413
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620224
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Depression, Thyroiditis, Atypical scarring of skin, Hashimoto ... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Depression, Thyroiditis, Atypical scarring of skin, Hashimoto ... ORPHA:99226
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Depression, Thyroiditis, Atypical scarring of skin, Hashimoto ... ORPHA:881
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Failure to thrive, Hypon... ORPHA:90790
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration, Short stature, Failure to thrive, Small for gestational age, Paresth... OMIM:601678
Microsporidiosis
Anorexia, Cachexia, Dehydration, Weight loss ORPHA:2552
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity ORPHA:444077
Colchicine Poisoning
Dehydration, Alopecia ORPHA:31824
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Failure... ORPHA:255210
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Fai... OMIM:619297
Japanese Encephalitis
Anorexia, Focal motor seizure, Elbow flexion contracture, Bilateral tonic-clonic seizure, Myoclon... ORPHA:79139
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Motor stereotypy, Bilateral tonic-clonic seizure, Umbilical hernia OMIM:301040
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Attention deficit hyperactivity disorder, Increased body weight, Small for gestational age OMIM:274300
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Bilateral tonic-clonic seizure, Myoclonus OMIM:620451
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Obesity, Inguinal hernia, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Cholera
Dehydration ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemia, Pituitary prola... OMIM:131100
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure, Premature adrenarche, Increased circulating andro... ORPHA:2976
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r... ORPHA:64
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Chorea, Athetosis, Lingual dystonia, Action tremor, Impaired oral bolus formati... ORPHA:404454
Sotos Syndrome
Tall stature, Seizure, Increased body weight, Overgrowth, Attention deficit hyperactivity disorde... OMIM:117550
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Lower-limb joint contracture, Seizure, Bilateral tonic-c... ORPHA:513456
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Small for gestational age, Bilateral tonic-clonic seizure OMIM:257300
Melas
Focal-onset seizure, Hypoparathyroidism, Seizure, Bilateral tonic-clonic seizure, Hypothyroidism,... ORPHA:550
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Inguinal hernia, Seizure, Camptodactyly, Bilateral tonic-clonic seizur... OMIM:280000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Decreased response to growth hormone stim... ORPHA:268261
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Choreoacanthocytosis
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-bangi... ORPHA:2388
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age ORPHA:254534
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Seizure, Obesity, Umbilical hernia, Bruxism ORPHA:48652
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:369837
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Unilateral Polymicrogyria
Abnormal posturing, Axial hypotonia, Spastic tetraplegia, Appendicular hypotonia, Pseudobulbar pa... ORPHA:268943
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Hypothermia, Dysdiadochokinesis, Gait disturbance, Gait ataxia, Ataxia, Flexion con... ORPHA:99027
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Lujo Hemorrhagic Fever
Seizure, Dysphagia, Bilateral tonic-clonic seizure ORPHA:319213
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Kagami-Ogata Syndrome
Large for gestational age, Inguinal hernia, Seizure, Overgrowth, Omphalocele, Dysphagia ORPHA:254519
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Hirsutism, Dehydration, Short stature, Failure to thrive, Weight loss ORPHA:90794
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Focal-onset seizure, Seizure, Infantile spasms, Camptodactyly, B... OMIM:301044
Sepsis In Premature Infants
Hypothermia, Decreased body weight, Small for gestational age, Elevated circulating C-reactive pr... ORPHA:90051
Marburg Hemorrhagic Fever
Anorexia, Dysesthesia, Dehydration, Aggressive behavior ORPHA:99826
Multiple Endocrine Neoplasia Type 1
Anorexia, Dehydration, Weight loss, Large cafe-au-lait macules with irregular margins ORPHA:652
Wilson Disease
Increased body weight, Failure to thrive, Weight loss, Hypersexuality, Aggressive behavior ORPHA:905
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Inguinal hernia, Lipoma, Lower-limb joint contracture, Seizure, Bilateral to... ORPHA:459070
Menkes Disease
Hypothermia, Inguinal hernia, Umbilical hernia, Intrauterine growth retardation, Atypical scarrin... ORPHA:565
D-Bifunctional Protein Deficiency
Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:261515
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Overgrowth, Bilateral tonic-clonic seizure, Slender build, Disproporti... ORPHA:457359
Cocaine Intoxication
Agitation, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence status ... ORPHA:90068
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia OMIM:608800
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Bilateral tonic-clonic seizure OMIM:234100
Tuberous Sclerosis Complex
Epileptic spasm, Focal-onset seizure, Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma... ORPHA:805
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration, Weight loss ORPHA:3337
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:620066
Congenital Enterovirus Infection
Hyperammonemia, Hypothermia, Hypoalbuminemia ORPHA:292
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Seizure, Decreased body weight, Bilateral tonic-clonic seizure, Small for ge... OMIM:620371
Liver Disease, Severe Congenital
Irritability, Inguinal hernia, Hypoproteinemia, Short attention span, Abnormal circulating thyroi... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Motor stereotypy, Attention deficit hyper... OMIM:614756
Cystic Fibrosis
Failure to thrive, Dehydration OMIM:219700
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Inability to walk, Abnormality of the endocrine system, Broad-based gait, Stereotypi... ORPHA:438213
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Tongue thrusting, Athetosis, Choreoathetosis, Lethargy OMIM:608643
Ethylene Glycol Poisoning
Hyperkalemia, Hypothermia, Hypocalcemia, Addictive alcohol use, Ataxia ORPHA:31826
Ogden Syndrome
Inguinal hernia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Minimal subcutaneous ... OMIM:300855
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Camptodactyly, Bilateral tonic-clonic seizure, ... OMIM:612474
Cushing Disease
Memory impairment, Depression, Emotional lability, Increased urinary cortisol level, Adrenal hype... ORPHA:96253
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Bilateral tonic-clonic seizure OMIM:252010
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Difficulty walking, Nail-biting, Hyperactivity, Corneal scarring, Impulsivity, Growt... ORPHA:642
Occipital Horn Syndrome
Scarring, Hypothermia, Inguinal hernia, Femoral hernia, Dysphagia, Atypical scarring of skin, Kel... ORPHA:198
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Gaucher Disease
Generalized myoclonic seizure, Arthrogryposis multiplex congenita, Dysphagia, Bilateral tonic-clo... ORPHA:355
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Sotos Syndrome
Generalized non-motor (absence) seizure, Ankle flexion contracture, Tall stature, Generalized myo... ORPHA:821
Sarcoidosis
Scarring, Abnormality of the adrenal glands, Hypothermia, Diabetes insipidus, Hypothyroidism, Hyp... ORPHA:797
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling, Inguinal hernia OMIM:620568
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Doors Syndrome
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
African Trypanosomiasis
Abnormality of renin-angiotensin system, Irritability, Abnormality of the endocrine system, Abnor... ORPHA:3385
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Hellp Syndrome
Increased body weight ORPHA:244242
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Carney Complex
Dorsocervical fat pad, Abdominal obesity, Tall stature, Increased body weight ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Htr2c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Htr2c.

No publications found that use IMPC mice or data for Htr2c.

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MGI Allele Allele Type Produced
Htr2ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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