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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 Disorder