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Gene: Slc6a4 MGI:96285

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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:
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Synonyms:
Sert,  5-HTT,  Htt

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 Slc6a4 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.

The table below shows human diseases associated to Slc6a4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230

The table below shows human diseases predicted to be associated to Slc6a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Major Affective Disorder 1
Depression, Mania OMIM:125480
Major Depressive Disorder
Depression OMIM:608516
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Diarrhea... OMIM:601419
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abnormality of the autonomic ner... OMIM:611376
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Autism
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Inf... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Inf... OMIM:607373
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea OMIM:251850
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Fever, Waddling gait ORPHA:168621
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Diarrhea 12, With Microvillus Atrophy
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... OMIM:619445
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Gastroesophageal reflux OMIM:618097
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Inf... OMIM:608636
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea OMIM:615863
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... ORPHA:103907
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Intellectual Developmental Disorder, Autosomal Recessive 64
Microcephaly, Reduced social reciprocity OMIM:618103
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, EEG abnormality ORPHA:3239
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611615
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, EEG abnormalit... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, EEG abnormalit... OMIM:300425
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Abnormal small intest... ORPHA:95427
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pontiac Fever
Fever ORPHA:99748
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Myopathy, Distal, 1
Left atrial enlargement, High palate, Dilated cardiomyopathy, Facial palsy OMIM:160500
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Immunodeficiency 70
Colitis, Achalasia, Celiac disease OMIM:618969
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Dystonia-Deafness Syndrome 1
Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Achalasia, Dysphag... OMIM:607371
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Frontalis muscle weakness, Facial palsy OMIM:300580
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Congenital Myopathy 2A, Typical, Autosomal Dominant
High palate, Dilated cardiomyopathy, Dysphagia, Facial palsy OMIM:161800
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Irritability,... ORPHA:3077
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Villous atrophy, Decreased circulating c... OMIM:600955
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Achalasia OMIM:615750
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Scleromyxedema
Gastroesophageal reflux, Abnormality of central nervous system electrophysiology, Abnormality of ... ORPHA:167635
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Optic disc coloboma, Abnormal large intestinal mucosa morphology, M... ORPHA:92050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vomiting, Gastroesophageal reflux, Nasogastric tube feeding, Abnormal gastrointestinal tract morp... ORPHA:1018
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Triple A Syndrome
Optic atrophy, Achalasia, Anterior hypopituitarism ORPHA:869
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Congenital Myopathy 4A, Autosomal Dominant
High palate, Dilated cardiomyopathy, Dysphagia, Facial palsy OMIM:255310
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Dysphagia, Achalasia, Delayed early-childhood social milestone development ORPHA:289483
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Motor stereotypy, Agitation OMIM:617171
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Vomiting, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Chroni... OMIM:248360
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Dilated cardiomyopathy, Triangular tongue, Reduced systolic function OMIM:616827
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Reduced social reciprocity, EEG abnormality, Dystonia, Motor stereotypy OMIM:617820
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Hypovolemia ORPHA:2290
Adult-Onset Nemaline Myopathy
High palate, Dilated cardiomyopathy, Neuromuscular dysphagia ORPHA:171442
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Secretory diarrhea, Villous atrophy, Enterocolitis, Episodic vomiting OMIM:616050
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Coarctation of ao... ORPHA:1209
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Bifid uvula, Vomiting, Diarrhea, Villous atrophy, Hypsarrhythmia, High palate OMIM:601110
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology ORPHA:1208
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia, Facial palsy, Nausea, Chronic diarrhea OMIM:615084
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Cyclic Neutropenia
Fever OMIM:162800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Achalasia OMIM:609033
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Bradycardia OMIM:618815
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Dysphagia, Achalasia, Generalized dystonia ORPHA:79107
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Crypt... OMIM:610198
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy, Hyperinsulinemic hypoglycemia, S... OMIM:602579
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Aortic regurgitati... ORPHA:3384
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia, Hand tremor OMIM:617862
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Decreased circulating cortisol level, Achalasia, Orthostatic hypotension, Abnormal... OMIM:231550
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Tetrasomy 18P
Achalasia ORPHA:3307
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Vomiting, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Attrv30M Amyloidosis
Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Constipation, Abnorma... ORPHA:85447
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Achalasia ORPHA:436174
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea, Dysphagia ORPHA:352447
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Bloody diarrhea, Duodenitis OMIM:614328
Chylomicron Retention Disease
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea OMIM:246700
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Aggressive behavior, EEG abnormality, Dystonia, Motor stereotypy OMIM:619150
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Foxg1 Syndrome
Gastroesophageal reflux, Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Motor ... ORPHA:561854
Baker-Gordon Syndrome
Self-injurious behavior, Gastroesophageal reflux, EEG abnormality, Dystonia, Motor stereotypy, Ch... OMIM:618218
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Dia... ORPHA:423461
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... ORPHA:2241
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy, Feeding difficulties OMIM:617830
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries ORPHA:2229
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Fever ORPHA:163703
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Chronic diarrhea, Reduced systolic function OMIM:618805
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Oral aversion, Achalasia, Cleft palate, Feeding difficulties OMIM:600987
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Celiac disease, Achalasia, Abnormal intestine morphology OMIM:615952
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Feeding difficulties OMIM:617787
Myopathy, Centronuclear, 5
Bifid uvula, High palate, Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Gastroesophageal reflux, Motor stereotypy, Feeding difficulties, Irritability OMIM:617393
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Optic atrophy, Vomiting, Dilated cardiomyopathy OMIM:614299
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Bruxism, Inappropriate laughter, Functional abnormalit... ORPHA:3095
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Villous atrophy, Atrial septal defect OMIM:608776
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiomyocyte morphology, Portal hyper... ORPHA:367
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Dilated cardiomyopathy ORPHA:272
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Cryptorchidism OMIM:613834
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Feeding difficulties OMIM:615510
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Achalasia, Bilateral cryp... OMIM:607398
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Chronic constipation, Aganglionic megacolon, Abnormal autonom... OMIM:209880
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Dilated cardiomyopathy, Intestinal pseudo-obstruction ORPHA:70595
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial... ORPHA:185
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Dk1-Cdg
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, EEG abnormalit... OMIM:300495
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Vomiting, Chronic diarrhea OMIM:619510
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Tremor, Achalasia, EEG abnormality, Dystonia, Athetosis, Feeding difficulties OMIM:615356
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, EEG with continuous slow activity, Inappropriate behavior, Disinhibition, I... ORPHA:275864
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Refractory Celiac Disease
Villous atrophy, Chronic diarrhea, Protein-losing enteropathy, Jejunitis ORPHA:398063
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:280679
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Atrial septal defec... ORPHA:290
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Vomiting, Anteriorly placed anus, Patent foramen ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ia
Vomiting, Diarrhea, Cardiomyopathy, Steatorrhea, Villous atrophy, Pericardial effusion, Pericarditis OMIM:212065
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Abnormality of the gastroi... ORPHA:79327
Mirage Syndrome
Gastroesophageal reflux, Decreased testicular size, Cryptorchidism, Achalasia, Chronic diarrhea, ... OMIM:617053
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Periodic fever, Fever OMIM:617772
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, EEG abnormality, Parox... OMIM:618718
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormal mitral... ORPHA:1876
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao... ORPHA:3092
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Inf... OMIM:608049
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept... OMIM:613404
Laing Early-Onset Distal Myopathy
High palate, Dilated cardiomyopathy ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Secretory diarrhea, Third degree atrioventricular blo... OMIM:619573
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu... OMIM:619482
Syndromic Diarrhea
Aortic regurgitation, Intractable diarrhea, Abnormal heart morphology, Tetralogy of Fallot, Villo... ORPHA:84064
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus OMIM:304790
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Optic atrophy, Arrhythmia, Dilated cardiomyopathy ORPHA:254913
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Bifid uvula, Dilated cardiomyopathy, Vomiting, Ventricular septal d... OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Xerostomia, Pos... ORPHA:85443
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... OMIM:208085
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Lopes-Maciel-Rodan Syndrome
Bruxism, Agitation, Tremor, Dysphagia, Dystonia, Motor stereotypy, Feeding difficulties OMIM:617435
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Christianson Syndrome
Gastroesophageal reflux, Inappropriate laughter, Feeding difficulties in infancy, Dysphagia, Dyst... ORPHA:85278
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy, Protracted diarrhea OMIM:209920
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Bilateral cryptorchidism,... ORPHA:2326
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Hereditary Central Diabetes Insipidus
Lethargy, Fever ORPHA:30925
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Facial palsy OMIM:602541
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Xq28 (MECP2) duplication
Gastroesophageal reflux, Depression, Feeding difficulties in infancy, Constipation, Dysphagia, Mo... DECIPHER:45
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Motor stereotypy OMIM:620033
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Mitral regurgitation, Cardiomyopathy OMIM:212112
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se... OMIM:267010
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipation OMIM:142623
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, V... OMIM:249270
Alg9-Cdg
Bifid uvula, Diarrhea, Vomiting, Gastroesophageal reflux, Abnormal heart morphology, Tricuspid re... ORPHA:79328
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy, Feeding difficulties OMIM:616341
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia OMIM:300858
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Cerebral Creatine Deficiency Syndrome 1
Vomiting, Ileus, Reduced social reciprocity, Aganglionic megacolon, Aggressive behavior, Attentio... OMIM:300352
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Dextrocardia
Abnormal lung lobation, Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, Abnormal... ORPHA:1666
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hypertrophic cardiomyopathy... ORPHA:71212
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect OMIM:616730
Rett Syndrome, Congenital Variant
Gastroesophageal reflux, Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Con... OMIM:613454
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Diarrhea, Gastroesophageal reflux, Oculogyric crisis, Limb dystonia, Emotional lab... OMIM:608643
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... OMIM:615237
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Propionic Acidemia
Arrhythmia, Constipation, Cardiomyopathy ORPHA:35
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Villous atrophy, Colitis, Chronic diarrhea OMIM:614700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Depression, Recurrent... ORPHA:449291
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception... OMIM:619377
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossi... ORPHA:89842
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:3342
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Gastroesophageal reflux, Exaggerated median tongue furrow... ORPHA:313892
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:620294
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Melas
Optic atrophy, Dilated cardiomyopathy, Diarrhea, Vomiting, Cardiomyopathy, Concentric hypertrophi... ORPHA:550
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Hypsarrhythmia, Achalasia OMIM:616007
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, High palate, Motor stereotypy, Excessive shyness ORPHA:280763
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, High pal... ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 2
Oral leukoplakia, Dilated cardiomyopathy, Chronic diarrhea, Esophageal stricture OMIM:613989
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Velopharyngeal insufficiency, Onychotillomania,... OMIM:182290
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotran... OMIM:613751
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, E... ORPHA:363618
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Diarrhea, Congestive heart failure, Villous atrophy, Patent foramen ovale, ... ORPHA:391487
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Intractable diarrhea, Tetralogy of Fallot, Villous atrophy, Ve... OMIM:222470
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting, Dilated cardiomyopathy, Bradycardia OMIM:610768
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Abnormal left ventricular function, Dilated cardiomyopathy OMIM:607155
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:615895
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Constipation, Hyperactivit... ORPHA:228402
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Interictal EEG abnormality, Emotional lability, Dysphagia, Optic disc pallor, Tube fe... ORPHA:79264
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Gastroesophageal reflux, Goiter, Reduced left ventricular ejection fracti... ORPHA:254892
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Gastroesophageal reflux, Depression, Nausea and vomiting, Aggressive behavior, Attention deficit ... OMIM:620242
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Dystonia, Restlessness, Motor stereotypy OMIM:600795
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Atelect... OMIM:613177
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Gastroesophageal reflux, Oculogyric crisis, Oral-pharyngeal dysphagia, N... ORPHA:208447
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... OMIM:620292
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis, Mitral regurgitation, Mitra... OMIM:607459
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricular hypertrophy, Episodic vomiting, Tach... OMIM:618321
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Feeding ... ORPHA:411696
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:98757
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy OMIM:619690
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Diarrhea, Dilated cardiomyopathy, Vomiting, Cardiomegaly, Arrhythmia, High palate,... OMIM:608836
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Hyperactivit... OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Chronic constipation, Aggressive behavior, Attention deficit hyperact... OMIM:618825
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Villous atrophy, Gastrointestinal eosinophilia, Intussuscep... OMIM:614162
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
48,Xxyy Syndrome
Gastroesophageal reflux, Depression, Decreased testicular size, Cryptorchidism, Tremor, Attention... ORPHA:10
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Fabry Disease
Optic atrophy, Depression, Malabsorption, Nausea and vomiting, Achalasia, Anorexia, Abdominal pain ORPHA:324
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage OMIM:277175
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Vomiting, Irritability... OMIM:616881
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Anal atresia, Motor... OMIM:617695
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipat... OMIM:617808
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defe... ORPHA:66634
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Gm1-Gangliosidosis, Type I
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive ... OMIM:230500
Hijazi-Reis Syndrome
Gastroesophageal reflux, Motor stereotypy, Chronic constipation, Gastrostomy tube feeding in infancy OMIM:301094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect,... OMIM:253800
Intellectual Developmental Disorder, X-Linked 98
Gastroesophageal reflux, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, R... OMIM:300912
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Aortic root aneury... ORPHA:280633
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Motor stereotypy ORPHA:85277
Dominant Beta-Thalassemia
Diarrhea, Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythm... ORPHA:231226
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... ORPHA:401935
Cri-Du-Chat Syndrome
Optic atrophy, Bifid uvula, Gastroesophageal reflux, Oppositional defiant disorder, Cryptorchidis... OMIM:123450
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... OMIM:155310
Developmental And Epileptic Encephalopathy 6B
Gastrostomy tube feeding in infancy, Dystonia, Multifocal epileptiform discharges, EEG with spike... OMIM:619317
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Head tre... OMIM:619428
Malignant Hyperthermia, Susceptibility To, 5
Malignant hyperthermia, Fever OMIM:601887
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach... OMIM:300952
Histidinemia
Hyperactivity ORPHA:2157
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Feeding... ORPHA:352490
Oromandibular Dystonia
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Ling... ORPHA:93958
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cryptorchidism, Stereotypical hand wringing, Compulsive behaviors, Dysto... OMIM:618917
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Reduced social reciprocity, Attention deficit hyperactivity disorder, Cl... ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Gastroesophageal reflux, Depression, Hostility, Bruxism, Cryptorchidism, Chronic constipation, Re... OMIM:300260
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsorption, Villous atrophy, Pan... OMIM:557000
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Atrial septal defect, Dextroca... OMIM:619702
Mcleod Syndrome
Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy OMIM:300842
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Dysphagia, Bowel incontinence, Gastroesophageal reflux, Righ... ORPHA:90291
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... OMIM:102200
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, High palate,... OMIM:164310
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Portal hypertension,... ORPHA:79319
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Gastroesophageal reflux, Feeding difficulties, Exaggerated startle response OMIM:620114
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Feeding difficulties, Emotional lability, Reye syndrome-like episodes, Nausea... ORPHA:927
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy OMIM:605676
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormalit... ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Vomiting, Dilated cardiomyopathy OMIM:251110
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Chronic constipation OMIM:618906
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Hi... OMIM:618342
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, Obsessive-co... ORPHA:168491
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Fever, Recurrent fever OMIM:201910
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Motor stereotypy, Abnormal social behavio... ORPHA:530983
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Gastroesophageal reflux, Recurrent hand flapping, Chronic constipation, ... OMIM:300986
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ... ORPHA:3426
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gastroesophageal reflux, Supernumerary nipple, Overfriendliness, High palate, Motor stereotypy, F... OMIM:616579
Beta-Thalassemia Major
Diarrhea, Dilated cardiomyopathy, Hypopituitarism, High-output congestive heart failure, Arrhythm... ORPHA:231214
Hyperekplexia 3
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response OMIM:614618
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Hsd10 Disease
Microcephaly, Abnormal social behavior ORPHA:391417
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Volvulus, Motor stereotypy, Dysphagia OMIM:617802
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Encopresis, Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia OMIM:620502
Progressive Supranuclear Palsy
Blepharospasm, Depression, Emotional lability, Tremor, Irritability, Dystonia, Dysphagia, Impulsi... ORPHA:683
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Metachromatic Leukodystrophy
Addictive behavior, Abnormal stomach morphology, Decreased nerve conduction velocity, Emotional l... ORPHA:512
Hyperekplexia 2
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response OMIM:614619
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Diarrhea, Dilated cardiomyopathy, Episodic vomiting, Cardiac arrest ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Obsessive-compulsive trait, Chronic constipation, Cryptorchidism, Irrit... OMIM:617796
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Sweet Syndrome
Inflammation of the large intestine, Dilated cardiomyopathy, Small vessel vasculitis ORPHA:3243
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased circulating T4 concentration, Cryptorch... OMIM:608104
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Sel... ORPHA:457240
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart mo... ORPHA:79282
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Paroxysmal bursts of laughter, Motor stere... OMIM:618347
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Vomiting, Congestive heart failure, Transient ischemi... ORPHA:3260
White-Sutton Syndrome
Self-injurious behavior, Bifid uvula, Gastroesophageal reflux, Poor suck, Overfriendliness, Irrit... OMIM:616364
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Median cleft palate, Left ventr... OMIM:242840
Blepharophimosis-Impaired Intellectual Development Syndrome
Gastroesophageal reflux, Cryptorchidism, Overfriendliness, Low frustration tolerance, Attention d... OMIM:619293
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy, Cryptorchidism, Cleft palate OMIM:603736
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Vomiting, Diarrhea, Anoperineal fistula, Villous atrophy, Crohn's disease, ... OMIM:619381
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Feeding difficulties in infancy, Hyperactivi... OMIM:614104
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Ventricular bigeminy, Gastroparesis, Arrhythmia, Constipation, Left bund... OMIM:610131
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Protruding tongue, Emotional lability, Aggressive behavior, Attention de... OMIM:619580
Steinert Myotonic Dystrophy
Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Prolonged P... ORPHA:273
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Chronic constipation, Tremor, Aggressive behavior, Attention deficit hyp... OMIM:617061
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ova... OMIM:610505
Rett Syndrome
Increased serum leptin, Bruxism, Stereotypical hand wringing, EEG abnormality, Abnormal autonomic... ORPHA:778
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Abnormality of the gastrointestinal... ORPHA:2070
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Nmda Receptor Encephalitis
Mania, Testicular teratoma, Diarrhea, Vomiting, Ovarian teratoma, Depression, Oculogyric crisis, ... ORPHA:217253
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Increased theta frequency activity in EEG, Paroxysmal dystonia, Attention deficit hyp... ORPHA:98784
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy ORPHA:103910
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Feeding diffic... OMIM:608800
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, High palate, Motor stereotypy OMIM:615637
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Portal hypertension ORPHA:567983
1P36 Deletion Syndrome
Optic atrophy, Dilated cardiomyopathy, Gastroesophageal reflux, Annular pancreas, Abnormal heart ... ORPHA:1606
Radio-Tartaglia Syndrome
High, narrow palate, Gastroesophageal reflux, Tremor, Aggressive behavior, Attention deficit hype... OMIM:619312
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Optic atrophy, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hyper... OMIM:615688
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, EEG ab... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Recurrent respirator... OMIM:620186
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Cryptorchidism OMIM:616541
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Spontaneous esophageal perforation OMIM:277320
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Vomiting, EEG with focal sharp waves, EEG with spike-wave complexes, Sel... ORPHA:522077
Viss Syndrome
Coronary sinus enlargement, Pulmonary artery aneurysm, Aortic root aneurysm, Emphysema, Right ven... OMIM:619472
Alpha-Heavy Chain Disease
Abdominal pain, Malabsorption, Abnormal small intestine morphology ORPHA:100025
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Aggressive behavior, Hyperactivity, Self-biting, High palate, Motor stereotypy, F... ORPHA:3306
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal rectum mor... ORPHA:2556
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia, Optic nerve hypoplasia ORPHA:572013
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Juvenile Polyposis Of Infancy
High, narrow palate, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Diarrhea, Pr... ORPHA:79076
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Transudative p... ORPHA:284227
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Tremor, Stereotypical hand wringing, Lactose intolerance, Constipation, ... OMIM:619229
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Smith-Magenis Syndrome
Self-injurious behavior, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Const... ORPHA:819
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Constipation, Hyperactivity, Compulsive behaviors, Motor stereotypy, Feeding... OMIM:618430
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Gastroparesis, Facial diplegia, Constipation, Atrial septal defect, Brad... ORPHA:70
Asparagine Synthetase Deficiency
Gastroesophageal reflux, EEG with burst suppression, Tremor, Irritability, Hypsarrhythmia, Exagge... OMIM:615574
Ritscher-Schinzel Syndrome 4
Narrow palate, Cryptorchidism, Aggressive behavior, Dysphagia, High palate, Athetosis, Motor ster... OMIM:619435
Coffin-Siris Syndrome 7
Constipation, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Feed... OMIM:618027
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Anomalous origin of right ... OMIM:610338
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Reduced social reciprocity, Dystonia, Feeding difficulties in infancy, Abnorm... ORPHA:300570
White-Sutton Syndrome
Self-injurious behavior, Optic atrophy, Gastroesophageal reflux, Chronic constipation, Aggressive... ORPHA:468678
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Supernumerary nipple, Low frustration tolerance, Submucous cleft hard p... ORPHA:457279
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Xerostomia, Gastrointestinal carcin... OMIM:175500
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hyperact... OMIM:600430
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Bifid uvula, Dilated cardiomyopathy, Gastroesophageal reflux, Optic disc coloboma,... OMIM:607872
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Constipation, Hypsarrhythmia, EEG with generalized slow activity, Motor ... OMIM:300672
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy, Feeding difficulties, Lobulated tongue OMIM:613443
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Multifocal epileptiform discharges, Hypsarrhythmia, Motor stereotypy ORPHA:411986
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Diastasis recti,... OMIM:312870
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusti... OMIM:606232
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Feeding difficulties, Irritability, EEG with generalized slow activity, Exaggerated startle respo... OMIM:617864
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Chronic constipation, Gastrostomy tube feeding in infancy, Aggressive behavior, ... ORPHA:476126
Tay-Sachs Disease
Optic atrophy, Depression, Laryngeal dystonia, Tremor, Gastrostomy tube feeding in infancy, Dysph... ORPHA:845
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Limb dystonia, EEG with frontal sharp slow waves, Gastrostomy tube feedi... ORPHA:457351
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Memory impairment, Narcolepsy OMIM:604121
Chops Syndrome
High, narrow palate, Optic atrophy, Gastroesophageal reflux, Gastroparesis, Cryptorchidism, Paten... OMIM:616368
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Dystonia, Motor stereotypy, Feeding difficulties OMIM:617807
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Abnormal circulating ... ORPHA:79474
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Right ventricular hypertrophy,... OMIM:150230
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hyperaldosteronism, Pericardial effusion, Sudde... ORPHA:73224
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Feeding difficulties, Optic nerve hypoplasia ORPHA:228384
Sandhoff Disease
Episodic abdominal pain, Orthostatic hypotension, Exaggerated startle response, Macroglossia, Chr... OMIM:268800
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Decreased response to growth hormone stimulatio... OMIM:203800
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Pulmonary artery stenosis, Ventricular septal ... ORPHA:3427
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Gastroesophageal reflux, Motor stereotypy, Feeding difficulties ORPHA:261144
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Gastroesophageal reflux, Anal fissure, Ankyloglossia, Gastrointestinal in... ORPHA:79408
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hepatomegaly, Pulmonary artery atresia,... OMIM:301056
Severe Generalized Junctional Epidermolysis Bullosa
Vomiting, Dilated cardiomyopathy, Constipation, Gastrointestinal inflammation, Bradycardia, Esoph... ORPHA:79404
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Hypsarrhythmia, Exaggerated startle response, High palate, Impaired orop... ORPHA:521426
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Tremor OMIM:619092
Young-Onset Parkinson Disease
Diarrhea, Gastroparesis, Constipation, Abnormal autonomic nervous system physiology, Nausea ORPHA:2828
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, High palate, Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Paroxysmal dystonia, Dystonia, Motor stereotypy OMIM:618004
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Hypothermia, Abnormality of temperature regulation, Unsteady gait OMIM:618493
Kleefstra Syndrome
Self-injurious behavior, Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Self-muti... ORPHA:261494
Bainbridge-Ropers Syndrome
Self-injurious behavior, Vomiting, Gastroesophageal reflux, Nasogastric tube feeding, Intestinal ... OMIM:615485
Immunodeficiency 77
Gastroparesis OMIM:619223
Kleefstra Syndrome 1
Gastroesophageal reflux, Cryptorchidism, Protruding tongue, Aggressive behavior, Compulsive behav... OMIM:610253
Mgat2-Cdg
Gastroesophageal reflux, Abnormal heart morphology, Gastroparesis, Ventricular septal defect, Arr... ORPHA:79329
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Gastroesophageal reflux, Hair-pulling, Gastrostomy tube feeding in infancy, Irritability, Hypsarr... ORPHA:447997
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Attention deficit hyperactivity disorder, Motor tics, Dystonia, Motor stereotypy,... OMIM:619725
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, EEG with burst suppression, Feeding difficulties, Agitation, Irritabili... OMIM:620423
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, High palate, Motor stereotypy,... OMIM:618354
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Gastrointe... OMIM:603041
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Cryptorchidism OMIM:618067
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response, High palate, Feeding difficu... OMIM:618056
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Chronic constipation, Dysphagia, Dystonia, Motor stereotypy, Bowel incontinence, F... ORPHA:496641
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Gastroparesis, Cryptorchidism, Arrhythmia, Hypertension OMIM:614052
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Motor stereotypy OMIM:619877
Narcolepsy 3
Narcolepsy OMIM:609039
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Tremor ORPHA:238750
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2092
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Elevated circulating thyroid-stimul... OMIM:618183
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Emotional lability, Hypsarrhythmia, Torticollis, Abdominal pain, High palate, Tics... OMIM:619475
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Childhood Absence Epilepsy
Depression, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attention deficit hyperactivity ... ORPHA:64280
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Feeding difficulties, High palate OMIM:618205
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Chromosome 15Q11.2 Deletion Syndrome
Feeding difficulties, Reduced social reciprocity, Attention deficit hyperactivity disorder, Compu... OMIM:615656
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Feeding difficulties in infancy, Motor stereotypy, Cryptorchidism, Feeding difficulties ORPHA:500159
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response, High palate, Dysphagia, Feeding difficulties, Poor suck OMIM:617527
Narcolepsy 1
Narcolepsy OMIM:161400
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Aspiration pneumonia, Narcolepsy, Hep... ORPHA:646
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, Facial diplegia, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:619121
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, High palate, Motor stereotypy, Compulsive behaviors OMIM:613174
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Portal hypertension, Abnormal pulmonary valve m... ORPHA:974
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Inappropriate laughter, Gastrostomy tube feeding in infancy, Motor stereotypy, Feedi... OMIM:615802
Choreoacanthocytosis
Dilated cardiomyopathy, Decreased amplitude of sensory action potentials, Protruding tongue, Abno... ORPHA:2388
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, O... OMIM:620494
Intellectual Developmental Disorder, Autosomal Dominant 48
Feeding difficulties in infancy, Motor stereotypy, Hyperactivity OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Self-mutilation, Chronic constipation, Attention deficit hyperactivity disorder, ... OMIM:619005
Cystinosis
Polydipsia, Vomiting, Motor stereotypy, Malabsorption ORPHA:213
Scedosporiosis
Abnormal jejunum morphology, Endocarditis, Pericarditis ORPHA:449280
Narcolepsy 7
Narcolepsy OMIM:614250
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Bifid uvula, Head-banging, Decreased response to growth hormone stimula... ORPHA:177907
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Decreased response to growth hormone stimulation te... OMIM:615873
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Machado-Joseph Disease Type 1
Progressive gait ataxia, Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:276238
Machado-Joseph Disease Type 2
Progressive gait ataxia, Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:276241
3P25.3 Microdeletion Syndrome
High, narrow palate, Attention deficit hyperactivity disorder, Motor stereotypy, Cleft palate, Py... ORPHA:435638
Rauch-Steindl Syndrome
Exocrine pancreatic insufficiency, Chronic constipation, Aggressive behavior, Hyperactivity, Moto... OMIM:619695
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Mental deterioration, Memory impairment ORPHA:314404
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Optic atrophy, Hyperactivity, Exaggerated startle response OMIM:617281
2Q37 Microdeletion Syndrome
Supernumerary nipple, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stere... ORPHA:1001
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... OMIM:620025
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de... OMIM:300963
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Irritability, Exaggerated startle response, Dysphagia, Feedin... OMIM:618367
Juvenile Polyposis Syndrome
Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal pol... ORPHA:2929
Dyrk1A-Related Intellectual Disability Syndrome
Vomiting, Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Hyperactivity, Anterior pit... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Low frustration tolerance, Cryptorchidism, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Pitt-Hopkins Syndrome
Self-injurious behavior, Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Constipat... OMIM:610954
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Cryptorchidism, Chronic constipation, Reduced social reciprocity, Aggres... ORPHA:96121
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Hematochezia, High, narrow palate, Head-banging, Frequent temper tantrum... OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Frequent temper tantrums, Cryptorchidism, Submucous cleft hard palate, Attention de... OMIM:619103
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:192430
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, EEG with photoparoxysmal response, Chronic constipation, Protruding tong... OMIM:619777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Intestinal malr... ORPHA:353281
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism OMIM:618504
Wiedemann-Steiner Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Low frustration t... ORPHA:319182
Acute Transverse Myelitis
Autonomic bladder dysfunction, Gastroparesis, Paralytic ileus, Subarachnoid hemorrhage, Constipat... ORPHA:139417
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Vomiting, Cryptorchidism, Posterior pituitary hypoplasia, Attention defi... ORPHA:464311
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism, Feeding difficulties OMIM:620073
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Cleft palate ORPHA:1727
Johanson-Blizzard Syndrome
Colonic diverticula, Dilated cardiomyopathy, Anteriorly placed anus, Exocrine pancreatic insuffic... OMIM:243800
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Vomiting, Feeding difficulties, Exaggerated startle response OMIM:620451
Machado-Joseph Disease Type 3
Progressive gait ataxia, Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:276244
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Cryptorchidism, Hiatus her... OMIM:616682
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Abnor... ORPHA:2306
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Arrhythmia ORPHA:33001
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect OMIM:620113
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Ventricular ... ORPHA:1692
Van Esch-O'Driscoll Syndrome
Bifid uvula, Feeding difficulties, Attention deficit hyperactivity disorder, Tracheoesophageal fi... OMIM:301030
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Hydroxykynureninuria
Motor stereotypy, Stomatitis ORPHA:79155
Prader-Willi Syndrome
Small pituitary gland, Vomiting, Xerostomia, Decreased circulating gonadotropin concentration, De... ORPHA:739
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, EEG with parietal focal spikes, Chronic constipation, EEG with central focal spik... OMIM:301066
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Cryptorchidism, Protruding tongue, Constipation, Macroglossia, Motor ste... OMIM:301040
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Feeding difficulties in infancy, Exaggerated startle response, High palate ORPHA:438216
Niemann-Pick Disease, Type C2
Motor stereotypy, Dystonia, Dysphagia OMIM:607625
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Gastroparesis, Facial palsy, Dysphagia OMIM:157640
Megalocornea-Intellectual Disability Syndrome
High palate, Motor stereotypy, EEG abnormality ORPHA:2479
Marfan Syndrome
Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Aortic dissection, Pulmonar... ORPHA:558
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung lobation, Anomalous origin of left pulmonary artery from as... ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Bifid uvula, Fixated interests, Emotional lability, Hair-pulling, Dyston... OMIM:620330
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Mitral regurgitation, Mitr... OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... OMIM:616894
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Li... OMIM:620371
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Congenital Disorder Of Glycosylation, Type Iia
Protruding tongue, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stere... OMIM:212066
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Ventricu... OMIM:618164
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Optic atrophy, Decreased nerve conduction velocity, Oppositional defian... ORPHA:580
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Tremor, Exaggerated startle response OMIM:620327
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Pulm... OMIM:154700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating gonadotropin concentration, Decreased response to growth hormone stimulatio... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating gonadotropin concentration, Decreased response to growth hormone stimulatio... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating gonadotropin concentration, Decreased response to growth hormone stimulatio... ORPHA:177904
Kinsship Syndrome
Gastroesophageal reflux, Bruxism, Ankyloglossia, Chronic constipation, Motor stereotypy OMIM:619297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Narrow palate, Gastroesophageal reflux, Abnormal fear-induced behavior, ... ORPHA:353277
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating gonadotropin concentration, Decreased response to growth hormone stimulatio... ORPHA:177901
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Cockayne Syndrome Type 1
Difficulty walking, Gait disturbance, Abnormality of temperature regulation, Ataxia ORPHA:90321
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect, Absent pulmonary artery OMIM:600460
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Coffin-Siris Syndrome 4
Macroglossia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery a... OMIM:614609
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Gastroesophageal reflux, Depression, Abnormal circu... ORPHA:534
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Whim Syndrome
Tetralogy of Fallot, Abnormal small intestine morphology, Parotitis ORPHA:51636
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Muscular ventricular septal defect, Gastroparesis, Decreased testicular ... OMIM:157800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Optic atrophy, Frequent temper tantrums, Cryptorchidism, Hyperactivity, ... OMIM:619512
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Knee flexion contracture, Pulmonary arteri... OMIM:601559
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Tricuspid regurgita... OMIM:614437
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Cryptorchidism, Optic disc pallor, Motor stereotypy, Duodenal atresia, O... ORPHA:468631
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Arboleda-Tham Syndrome
Optic atrophy, Gastroesophageal reflux, Bilateral cryptorchidism, Intestinal malrotation, Cleft p... OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, High palate, Motor stereotypy OMIM:616393
Alström Syndrome
Increased circulating androgen concentration, Testicular fibrosis, Dilated cardiomyopathy, Gastro... ORPHA:64
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Stereotypical body rocking, Gastrostomy tube feeding in infancy, Feeding... ORPHA:513456
Gm1 Gangliosidosis Type 1
Macroglossia, Feeding difficulties, Exaggerated startle response ORPHA:79255
Hyperlysinemia
Pulmonary artery hypoplasia, Short attention span, Recurrent pneumonia ORPHA:2203
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gastroesophageal reflux, Hand tremor, Chronic constipation, Hiatus hernia, Aggressive behavior, A... OMIM:614756
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Increased circulating prolactin concentration, Cryptorchidism, Stereotyp... ORPHA:438213
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... ORPHA:261537
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... ORPHA:261552
Pauci-Immune Glomerulonephritis
Abnormality of the pulmonary vasculature, Pulmonary hemorrhage, Arteritis, Small vessel vasculitis ORPHA:93126
Joubert Syndrome 6
Motor stereotypy, Bile duct proliferation OMIM:610688
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Ogden Syndrome
Narrow palate, Vomiting, Diarrhea, Decreased testicular size, Cryptorchidism, Irritability, Dysph... OMIM:300855
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Liver Disease, Severe Congenital
Protein-losing enteropathy, Diarrhea, Vomiting, Pancreatic hypoplasia, Exocrine pancreatic insuff... OMIM:619991
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Gastroparesis, Tr... ORPHA:500150
Coffin-Siris Syndrome 12
Gastroesophageal reflux, Velopharyngeal insufficiency, Cryptorchidism, Chronic constipation, Subm... OMIM:619325
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Supernumerary nipple, Cryptorchidism, High palate, Motor stereotypy, Feed... OMIM:618653
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Gastroesophageal reflux, Hypsarrhythmia, EEG abnormality, Motor stereotypy, Cleft palate OMIM:301044
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea... ORPHA:774
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Abnormal optic disc morphology, Facial palsy, Motor stereotypy... ORPHA:508498
Hypotonia, Ataxia, And Delayed Development Syndrome
Gastroesophageal reflux, Motor stereotypy, Dysphagia, Cryptorchidism OMIM:617330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infec... ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Hepatomegaly, ... OMIM:619534
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect OMIM:620568
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Motor stereotypy ORPHA:508533
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Fat malabsorption, Portal hypertension, ... ORPHA:731
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, EEG abnormality, Motor stere... OMIM:194190
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Bruxism, Cleft hard palate, EEG w... ORPHA:2152
Deeah Syndrome
Abnormality of temperature regulation, Decreased circulating free T4 concentration, Decreased cir... OMIM:619004
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Gastroparesis, Esophagitis, Abnormal esophagus phys... ORPHA:198
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Cryptorchidism, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response... OMIM:619522
Fraser Syndrome 1
Abnormal heart morphology, Abnormal small intestine morphology, Cryptorchidism, Abnormality of th... OMIM:219000
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Cryptorchidism, Hyperactivity, High palate, Motor stereotypy OMIM:309590
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Abnormal social behavior ORPHA:1675
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m... OMIM:606721
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Koolen-De Vries Syndrome Due To A Point Mutation
Microcephaly, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Microcephaly, Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Norrie Disease
Self-injurious behavior, Optic atrophy, Cryptorchidism, Irritability, Attention deficit hyperacti... ORPHA:649
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:273395
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Constipation, Motor stereotypy, Cryptorchidism OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Bifid uvula, Tremor, High palate, Motor stereotypy OMIM:612474
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Mend Syndrome
Abnormal social behavior ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Primrose Syndrome
Self-injurious behavior, Bilateral cryptorchidism, Cryptorchidism, Aggressive behavior, Attention... OMIM:259050
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Williams Syndrome
Microcephaly, Abnormal social behavior, Overfriendliness ORPHA:904

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 Slc6a4

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 Slc6a4.

No publications found that use IMPC mice or data for Slc6a4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc6a4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc6a4tm346(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc6a4tm346(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc6a4em1(IMPC)Ccpcz Inter-exon deletion Mice

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