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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
Collectionism, Compulsive behaviors, Skin-picking, Depression 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Major Affective Disorder 1
Mania, Depression 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
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Fever, Familial Lifelong Persistent
Fever OMIM:228400
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
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myopathy, Myofibrillar, 1
Facial palsy, Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block... OMIM:601419
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Autism
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... OMIM:607373
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar... ORPHA:860
Lactose Intolerance, Adult Type
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223100
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Dysplasia Of Head Of Femur, Meyer Type
Fever, Antalgic gait, Waddling gait ORPHA:168621
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... OMIM:619445
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Gastroesophageal reflux OMIM:618097
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy OMIM:615863
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci... OMIM:608636
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Vomiting, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Achalasia ORPHA:3239
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300425
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy, High palate, Facial palsy OMIM:160500
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... ORPHA:70589
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Leg dystonia, Cleft palate, Pseudobulbar paralysis, Dysp... OMIM:607371
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Facial palsy, Frontalis muscle weakness OMIM:300580
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy, High palate, Facial palsy, Dysphagia OMIM:161800
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Diarrhea, Hypoinsulinemia OMIM:600955
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Pontiac Fever
Fever ORPHA:99748
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Abnormality of central nervous system... ORPHA:167635
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Triple A Syndrome
Achalasia, Optic atrophy, Anterior hypopituitarism ORPHA:869
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargement, Cardiogenic... OMIM:619424
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, EEG abnormality, Agitation, Emotional lability, Abnormal repetitive mannerisms OMIM:617171
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Diarrhea, Dilated cardiomyopathy, Chronic constipa... OMIM:248360
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Dilated cardiomyopathy, Reduced systolic function, Triangular tongue OMIM:616827
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy, High palate, Facial palsy, Dysphagia OMIM:255310
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Delayed early-childhood social milestone development, Aggressive behavior, Dysphagia ORPHA:289483
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Microvillus Inclusion Disease
Diarrhea, Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy ORPHA:2290
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter... OMIM:181350
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Diffuse alveolar hemorrhage, Secretory diarrhea, Enterocolitis, Episodic vomiting OMIM:616050
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Adult-Onset Nemaline Myopathy
High palate, Dilated cardiomyopathy, Neuromuscular dysphagia ORPHA:171442
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Chronic diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea OMIM:615084
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula OMIM:601110
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Decreased sensory nerve conduction velocity, Optic atrophy OMIM:609033
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Cyclic Neutropenia
Fever OMIM:162800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea, Hyperinsulinemic hy... OMIM:602579
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Achalasia, Generalized dystonia, Dysphagia ORPHA:79107
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Impaired social interactions, Dystonia, Abnormal repeti... OMIM:617820
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Hand tremor, Dysphagia OMIM:617862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Tetrasomy 18P
Achalasia ORPHA:3307
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy OMIM:252011
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology ORPHA:1208
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Decreased response to growth hormone stimulation test ORPHA:436174
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Abnormal autonomic ... ORPHA:85447
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Cardiomegaly OMIM:600649
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal aortic ... ORPHA:1166
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Chylomicron Retention Disease
Diarrhea, Vomiting, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetit... OMIM:619150
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Baker-Gordon Syndrome
Feeding difficulties, Choreoathetosis, Self-injurious behavior, EEG abnormality, Gastroesophageal... OMIM:618218
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Foxg1 Syndrome
Dystonia, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Constipation, Impaired ... ORPHA:561854
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries ORPHA:2229
Developmental And Epileptic Encephalopathy 58
Feeding difficulties, Optic atrophy, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:617830
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction ORPHA:206559
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency OMIM:615952
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea ORPHA:352447
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... OMIM:108900
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Chronic diarrhea, Functio... ORPHA:90362
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Abnormal autonomic ... OMIM:231550
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Abnormal repetitive mannerisms, Gastroesophageal reflux, Feeding difficulties OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding difficulties OMIM:617787
Myopathy, Centronuclear, 5
Mitral regurgitation, Dilated cardiomyopathy, High palate, Bifid uvula OMIM:615959
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Cleft palate, Feeding difficulties, Gastroesophageal reflux, Oral aversion, Achalasia OMIM:600987
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy, Vomiting OMIM:614299
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ... OMIM:612069
Febrile Infection-Related Epilepsy Syndrome
Fever, Lethargy ORPHA:163703
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy ORPHA:272
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal varix, Abnormal... ORPHA:367
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis ORPHA:398063
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia OMIM:615510
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal... ORPHA:90308
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... OMIM:209880
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Dilated cardiomyopathy, Gastroparesis ORPHA:70595
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Intestinal malrotation, Hypoperistalsis OMIM:613834
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... OMIM:300845
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, EEG abnormality, Increased serum serotonin, Abnormal repetitive mannerisms,... OMIM:300495
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Chronic diarrhea, Vomiting OMIM:619510
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormality of the p... ORPHA:290
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Tremor, Feeding difficulties, EEG abnormality, Athetosis, Esophagitis, Dystonia, Achalasia OMIM:615356
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... ORPHA:275864
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... ORPHA:280679
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Villous atrophy, Pericardial effusion, Diarrhea, Cardiomyopathy, Vomiting, Steatorrhea OMIM:212065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Abnormal heart morphology, Cardiomyo... ORPHA:79327
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, EEG abnormality, Bruxism, Abnormal repetitive man... OMIM:618718
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea OMIM:209920
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... OMIM:613404
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastriti... ORPHA:84064
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Increased ser... OMIM:608049
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... ORPHA:185
Mirage Syndrome
Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Achalasia, Decre... OMIM:617053
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus OMIM:304790
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... OMIM:619482
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, High palate ORPHA:59135
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy, Arrhythmia ORPHA:254913
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Sudden card... OMIM:614921
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Secretory... OMIM:619573
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardio... OMIM:619167
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Type 2 muscle fibe... ORPHA:98915
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormality of the gastrointestinal tract, Gastropares... ORPHA:85443
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Dysphagia, Feeding difficulties, Agitation, Bruxism, Abnormal repetitive manner... OMIM:617435
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d... ORPHA:99050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Christianson Syndrome
Feeding difficulties in infancy, Dysphagia, Gastroesophageal reflux, Inappropriate laughter, Dyst... ORPHA:85278
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Feeding difficulties in infancy, Self-injurious behavior, Compulsive behavio... OMIM:613670
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... OMIM:172700
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Midgut malrotation, Dil... ORPHA:2326
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Facial palsy OMIM:602541
Hereditary Central Diabetes Insipidus
Fever, Lethargy ORPHA:30925
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal... ORPHA:1926
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... OMIM:608643
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val... OMIM:267010
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Diarrh... ORPHA:79328
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Diarrhea, Dilated cardiomyopathy, Fasting hyperinsulinemia, Vomiting, Hype... ORPHA:71212
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Abnormal repetitive mannerisms OMIM:620033
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Depression, Constipation, Gastroesophageal reflux, Dysphagia, Ab... DECIPHER:45
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... ORPHA:330001
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... ORPHA:1666
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic atrophy, Cardiomyopathy,... OMIM:249270
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Aganglionic megacolon, Aggressive behavior, Feeding difficulties in infancy, Ileus, Vom... OMIM:300352
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Constipation ORPHA:35
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self-injurious behavior, G... ORPHA:449291
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Intestinal pseudo-obstruction, Cardiac conduc... ORPHA:550
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Congestive hear... ORPHA:3342
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Dilated cardiomyopathy, Constipation, Ga... ORPHA:89842
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:614700
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... OMIM:619377
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, 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
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, Narrow palate, Feeding diff... ORPHA:313892
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Mitral... ORPHA:261250
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea, Esophageal stricture, Dilated cardiomyopathy, Oral leukoplakia OMIM:613989
Rett Syndrome, Congenital Variant
Dystonia, Tongue thrusting, Feeding difficulties, Irritability, EEG abnormality, Athetosis, Gastr... OMIM:613454
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia, Decreased response to growth hormone stimulation test, Hypsarrhythmia OMIM:616007
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Dystonia, High palate, Shyness ORPHA:280763
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Ventricular septal defect, Pulmonic stenosis, Intractable ... OMIM:222470
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Congestive heart failure, Diarrhea, Esophageal carcinoma, Enterocolitis, Renovas... ORPHA:391487
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia, Cardiomyopathy,... OMIM:615895
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia OMIM:610768
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Inte... ORPHA:210122
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Depression, Dysphagia, Emotional lability, Abnorma... ORPHA:79264
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Macroglossia, Dilated cardiomyopathy OMIM:607155
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Gastroparesis, Facial palsy, Dilated cardiomyopathy, Facial diplegia, Reduce... ORPHA:254892
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Double outlet right ventricle, Single ventric... OMIM:620294
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Fabry Disease
Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Optic atrophy, Depression, Achalasia ORPHA:324
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:618348
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Dystonia, Abnormal repe... OMIM:600795
2Q23.1 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Polyphagia, Self-injurious behavior, Constipation, Abnormal repeti... ORPHA:228402
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Nausea and vomiting, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Gastroesophageal ... OMIM:620242
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, Gast... ORPHA:208447
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... OMIM:613177
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, Attention defi... OMIM:620292
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Mitral valve prolapse, Mitr... OMIM:607459
Smith-Magenis Syndrome
Hyperactivity, Velopharyngeal insufficiency, Self hugging, Head-banging, EEG abnormality, Constip... OMIM:182290
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricular hypertrophy, Episodic v... OMIM:618321
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Diarrhea, Dilated cardiomyopathy, Narrow palate, Vomiting, High palate, Arrhythmia,... OMIM:608836
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619690
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, EEG abnormality, Gastr... OMIM:610883
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Feeding difficulties in infancy, Chronic constipation, High palate, Attentio... OMIM:618825
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Flexion cont... ORPHA:280633
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Immunodeficiency 31C
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... OMIM:614162
48,Xxyy Syndrome
Tremor, Cryptorchidism, Feeding difficulties in infancy, Cleft palate, Depression, Gastroesophage... ORPHA:10
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... OMIM:230500
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Feed... OMIM:616881
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal repetitive... OMIM:617695
Coffin-Siris Syndrome 6
High, narrow palate, Cleft palate, Gastroesophageal reflux, Tics, Attention deficit hyperactivity... OMIM:617808
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... ORPHA:66634
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pa... ORPHA:2847
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Chr... OMIM:301094
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Episodic vomiting, Self-biting, Hypsarrhythmia, Feed... OMIM:300912
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, Steato... OMIM:557000
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux ORPHA:85277
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, High-output congestive heart failure, Diarrhea, Dilated card... ORPHA:231226
Histidinemia
Hyperactivity ORPHA:2157
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Congestive heart failure, Dilated cardiomy... OMIM:203800
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypsarrhythmia, Chronic constipation, Head tremor, Con... OMIM:619428
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Limb dystonia, ... ORPHA:93958
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Feeding difficulties in infancy, Cryptorchidism, Self-mutilat... OMIM:123450
Mcleod Syndrome
Cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation OMIM:300842
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Choreoathetosis, Dys... OMIM:619317
Systemic Sclerosis
Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux, Abnormal small intes... ORPHA:90291
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Feeding difficulties in infancy, Cryptorchidism, Repetitive compulsive behavior, C... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, Repetitive compulsive behavior, Bruxism, Depression, Feeding difficulties, Chroni... OMIM:300260
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Pyloric stenosis, Cleft palate, Feeding difficulties, Choreoathetosis, Gastroesophageal... ORPHA:261197
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Agitation, Vomiting, ... ORPHA:927
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Feeding difficulties, Gastroesophageal reflux, Depression OMIM:620114
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Facial palsy, Dilated cardiomyopathy, High palate, Dysphagia, Hyp... OMIM:164310
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Dysphagia, Hypertrophic ca... ORPHA:255210
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive mann... OMIM:618917
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Feeding difficulties, Abnormal temper tantrums, Abnormal social beh... ORPHA:530983
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, High palate, Attention deficit hyperactivity disorder... OMIM:618342
Hsd10 Disease
Abnormal social behavior, Microcephaly ORPHA:391417
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Vo... ORPHA:2070
Beta-Thalassemia Major
Hypoparathyroidism, Hypopituitarism, High-output congestive heart failure, Diarrhea, Dilated card... ORPHA:231214
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Visceral Myopathy 1
Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Constipation, Vomi... OMIM:155310
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple, Feeding difficulties, Gastroesophageal reflux, High palate, Abnormal repeti... OMIM:616579
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Feeding difficulties, Self-injurious behavior, Chronic constipation, Gastroe... OMIM:300986
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Volvulus, Abnormal repetitive mannerisms, Interictal epileptiform activity, Dysphagia OMIM:617802
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Achalasia ORPHA:91416
Cardiac Valvular Dysplasia 1
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Lef... OMIM:212093
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Optic atrophy, Abnormal heart mo... ORPHA:79282
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Bilateral cryptorchidism, Cryptorchidism, Pica, Feeding difficulties, Irritability... OMIM:617796
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Diarrhea, Dilated cardiomyopathy, Hypotension, Episodic vomiting ORPHA:20
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy, Inflammation of the large intestine ORPHA:3243
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, High palate, Decreased response to... OMIM:618347
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Dilated cardiomyopathy, Cleft palate OMIM:603736
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Low frustration tolerance, Attenti... OMIM:619293
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cleft palate, Cardiomyopathy, High palate, Dysp... OMIM:242840
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Self-mutilation, Depression, High ... ORPHA:457240
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Perimembranous ventricular septal defect, Vomiting, Protein-losing ente... OMIM:608104
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pul... OMIM:601186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Facial palsy, Left bundle branch block, Gastroesophageal reflux, Constipation, Arr... OMIM:610131
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreoatheto... OMIM:619580
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... ORPHA:168491
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Gastritis, Duodenal ulcer, Diarrhea, Colitis, Vomiting, Vasculitis in the skin, ... OMIM:619381
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Steinert Myotonic Dystrophy
Prolonged QRS complex, Intestinal pseudo-obstruction, Decreased response to growth hormone stimul... ORPHA:273
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy ORPHA:103910
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Depression, Abnormal synaptic transmission, Blepharospasm, Dysphagia ORPHA:683
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Metachromatic Leukodystrophy
Dystonia, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, T... ORPHA:512
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Feeding difficulties in infancy, Inappropriate laughter, Abnormal repetitive manne... OMIM:614104
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Dystonia, Oculogyric crisis, Orthostatic tachycardia, ... ORPHA:217253
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Increased theta frequency activity in EEG, Depression, EEG with focal spikes... ORPHA:98784
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Rett Syndrome
EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Increased serum leptin,... ORPHA:778
Combined Oxidative Phosphorylation Deficiency 3
Optic neuropathy, Dilated cardiomyopathy, Optic atrophy, Concentric hypertrophic cardiomyopathy, ... OMIM:610505
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Tremor, Feeding difficulties, Self-injurious behavior, Chronic constipation,... OMIM:617061
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Villous atrophy, Portal hypertension ORPHA:567983
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, EEG with focal spike waves, Tremor, Multifocal epileptiform discharges, Hyps... OMIM:619229
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, Protein-los... OMIM:175500
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Cleft palate, Poor suck, Feeding diff... OMIM:616364
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, High palate OMIM:615637
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr... OMIM:618316
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Optic atrophy, Esoph... OMIM:615688
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Tremor, High, narrow palate, High palate, Gastroesophageal refl... OMIM:619312
1P36 Deletion Syndrome
Abnormal heart valve morphology, Pyloric stenosis, Cryptorchidism, Dilated cardiomyopathy, Optic ... ORPHA:1606
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Feeding difficulties in infancy,... OMIM:608800
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Im... OMIM:610042
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis, EEG abn... ORPHA:522077
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Atrial septal defect, Pulmonary arterial hyperten... OMIM:620186
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis OMIM:277320
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Dilated cardiomyopathy OMIM:616541
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... ORPHA:95430
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Diarrhea, Rectal prolapse, Adenomatous colonic ... ORPHA:79076
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-biting, Feeding difficulties, High palat... ORPHA:3306
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Atrial septal defect, Epidural ... OMIM:619472
Smith-Magenis Syndrome
Feeding difficulties in infancy, Cleft palate, Self-injurious behavior, EEG abnormality, Gastroes... ORPHA:819
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Feeding difficulties, Constipation, Compulsive behaviors, Abn... OMIM:618430
Proximal Spinal Muscular Atrophy
Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Bradycardia, Dysphagia, At... ORPHA:70
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Mitral regurgitation, Abn... ORPHA:2556
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Cryptorchidism, Narrow palate, Athetosis, High palate, Dysphagi... OMIM:619435
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Vomiting, Malabsorption ORPHA:213
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Optic nerve hypoplasia, Feeding difficulties in infancy, Delayed early-childhood soc... ORPHA:300570
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... OMIM:607872
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Skin-picking, ... OMIM:600430
White-Sutton Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Aggressive behavior, Feeding difficulti... ORPHA:468678
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Feeding difficulties, Constipation, Compulsive behaviors, ... OMIM:618027
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chronic... ORPHA:457279
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, Constipation, Gastroesophageal reflux, Abnormal repetitive mannerisms, EEG with g... OMIM:300672
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Narcolepsy OMIM:604121
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Abnormal repetitive mannerisms, Feeding difficulties OMIM:613443
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, Hypsarrhythmia ORPHA:411986
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Episodic vomiting, Feeding difficulties, Gastroesophageal ... OMIM:606232
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Optic atrophy, Cardiomyopathy, Gastric ulcer, Constip... ORPHA:3463
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Abnormal circulating leptin concentration, C... ORPHA:79474
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... ORPHA:284227
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... OMIM:610338
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Feeding difficulties in infancy, Poor suck, Chronic constipation, Hi... ORPHA:476126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, EEG with frontal sharp slow waves, Self-injurious behavior, EEG abnormality, Cons... ORPHA:457351
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism... OMIM:270100
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Feeding difficulties, Optic atrophy, Abnormal repetitive mannerisms, Dystonia OMIM:617807
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Chronic diarrhea, Episodic abdominal pain,... OMIM:268800
Chops Syndrome
Ventricular septal defect, Gastroparesis, High, narrow palate, Cryptorchidism, Optic atrophy, Ano... OMIM:616368
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Depression, Dysphagia, Mania, Lary... ORPHA:845
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Feeding difficulties, Irritability, EEG wit... OMIM:617864
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Myocardial infarction,... OMIM:150230
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Abnormal repetitive mannerisms, Gastroesophageal reflux, Feeding difficulties ORPHA:261144
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Feeding difficulties ORPHA:228384
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, Intestinal perf... OMIM:603041
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea ORPHA:2828
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, EEG with generalized slow a... ORPHA:397612
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Abnormal repetitive mannerisms OMIM:619092
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Hypsarrhythmia, Feeding difficulties, High palate, D... ORPHA:521426
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Dilated cardiomyopathy, Gastrointestinal inflammation, Constipation, Vomiti... ORPHA:79404
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Bruxism, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms OMIM:618004
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Bainbridge-Ropers Syndrome
Intestinal malrotation, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Self-injuriou... OMIM:615485
Kleefstra Syndrome 1
Protruding tongue, Aggressive behavior, Cryptorchidism, Macroglossia, Gastroesophageal reflux, Co... OMIM:610253
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Kleefstra Syndrome
Supernumerary nipple, Aggressive behavior, Bowel incontinence, Cryptorchidism, Pyloric stenosis, ... ORPHA:261494
Narcolepsy 3
Narcolepsy OMIM:609039
Immunodeficiency 77
Gastroparesis OMIM:619223
Mgat2-Cdg
Ventricular septal defect, Gastroparesis, Abnormal heart morphology, Gastroesophageal reflux, Hyp... ORPHA:79329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Dilated cardiomyopathy, Gastrointestinal inflammation, Gastroesophageal reflux, Dys... ORPHA:79408
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Attention deficit hyperactivity disorder, Dystonia, Abnormal repetitive mannerism... OMIM:619725
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Irritability, Gastroesophageal reflux, Dysphagia, Ab... ORPHA:447997
Houge-Janssens Syndrome 3
Feeding difficulties, Self-injurious behavior, High palate, Attention deficit hyperactivity disor... OMIM:618354
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Bowel incontinence, Optic atrophy, Feeding difficulties, Chronic constipation, Dysphagi... ORPHA:496641
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:619877
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Feeding difficulties, Agitation, High p... OMIM:618056
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P... OMIM:301056
Narcolepsy 1
Narcolepsy OMIM:161400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis, Cryptorchidism, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy OMIM:614052
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, High palate, Tics, Compulsive behaviors, Vomiting, Abnormal repetitive manne... OMIM:619475
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... ORPHA:64280
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:618183
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Chromosome 15Q11.2 Deletion Syndrome
Cleft palate, Feeding difficulties, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:615656
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Niemann-Pick Disease Type C
Hepatomegaly, Progressive neurologic deterioration, Bone-marrow foam cells, Splenomegaly, Abnorma... ORPHA:646
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis ORPHA:1908
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Feeding difficulties, High palate, Dysphagia, Poor suck OMIM:617527
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, High palate, Attention deficit hyperactivity disorder, Feeding di... OMIM:618205
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis... ORPHA:2092
Narcolepsy 7
Narcolepsy OMIM:614250
Chromosome 5P13 Duplication Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, Compulsive behaviors OMIM:613174
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Feeding difficulties in infancy, Cryptorchidism, Abnormal repetitive mannerisms, Feeding difficul... ORPHA:500159
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... OMIM:616777
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Facial diplegia, Attention deficit hyperactivity disorder, Abnormal repetiti... OMIM:619121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Feeding difficulties, Inappropriate laughter, Abnormal repetitive mannerisms, Bifid uvula, Gastro... OMIM:615802
Choreoacanthocytosis
Protruding tongue, Dilated cardiomyopathy, Abnormal autonomic nervous system physiology, Dysphagi... ORPHA:2388
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Feeding dif... ORPHA:177907
Machado-Joseph Disease Type 1
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation ORPHA:276241
Scedosporiosis
Pericarditis, Abnormal jejunum morphology, Endocarditis ORPHA:449280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Narcolepsy ORPHA:314404
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate, Attention deficit hyperactivity disorder, Ab... ORPHA:435638
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h... ORPHA:352665
Rauch-Steindl Syndrome
Hyperactivity, Aggressive behavior, Feeding difficulties, Chronic constipation, Abnormal repetiti... OMIM:619695
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, Autosomal Dominant 48
Feeding difficulties in infancy, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Chronic diarrhea, Chronic constipation, EEG abnormality, High palate, Attention d... OMIM:619005
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Cryptorchidis... OMIM:615873
Johanson-Blizzard Syndrome
Colonic diverticula, Ventricular septal defect, Portal hypertension, Malabsorption, Situs inversu... OMIM:243800
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Hyperactivity, Optic atrophy, Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Feeding difficulties, Irritability, Dysphagia, EEG with generalized... OMIM:618367
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Self-injurious behavior, Gastroesophageal reflux, Constipat... OMIM:610954
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Polyphagia, Self-injurious beh... ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Submucous cleft hard palate, Head-banging, Attention deficit hyperactivity disord... OMIM:619103
2Q37 Microdeletion Syndrome
Supernumerary nipple, Pyloric stenosis, Attention deficit hyperactivity disorder, Compulsive beha... ORPHA:1001
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... ORPHA:974
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis... ORPHA:464306
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Wiedemann-Steiner Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Feedin... ORPHA:319182
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmonary stenos... OMIM:618164
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Developmental And Epileptic Encephalopathy 100
Protruding tongue, EEG with photoparoxysmal response, Choreoathetosis, Chronic constipation, Gast... OMIM:619777
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mu... OMIM:300486
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, C... ORPHA:139417
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Head-banging, Feeding difficulties, Hematochezia, Self-injurious behavior, C... OMIM:619575
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Na... ORPHA:3385
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Cryptorchidism, Feeding difficulties, Posterior pituitary hypoplasia, Gastroes... ORPHA:464311
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repetitive mannerisms, C... ORPHA:1727
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation ORPHA:276244
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... OMIM:620025
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A... OMIM:300963
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Encopresis, Feeding difficulties, Gastroes... OMIM:616682
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding... OMIM:620073
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Van Esch-O'Driscoll Syndrome
Impulsivity, Shyness, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Attent... OMIM:301030
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Lymphedema-Distichiasis Syndrome
Arrhythmia, Abnormality of the pulmonary vasculature ORPHA:33001
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Aggressive behavior, EEG with central focal spikes, Cleft palate,... OMIM:301066
Hydroxykynureninuria
Stomatitis, Abnormal repetitive mannerisms ORPHA:79155
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Cryptorchidism, Poor suck, Macroglossia, Gastroesophageal reflux, Constipation... OMIM:301040
Prader-Willi Syndrome
Gastroparesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Decreased i... ORPHA:739
Niemann-Pick Disease, Type C2
Dystonia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Exaggerated startle response, High palate, Dystonia ORPHA:438216
Peters Plus Syndrome
Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology,... ORPHA:709
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale OMIM:620113
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Gastroparesis, Facial palsy, Dysphagia OMIM:157640
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, High palate, EEG abnormality ORPHA:2479
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Polyphagia, Self-injuriou... OMIM:620330
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid... OMIM:601776
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Malabsorption, Feeding difficulties in infancy, Cryptorchidism, Narrow palat... ORPHA:534
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Protruding tongue, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... OMIM:212066
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola... OMIM:175050
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lo... ORPHA:141127
Mucopolysaccharidosis Type 2
Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve conduction velocity... ORPHA:580
Kinsship Syndrome
Chronic constipation, Ankyloglossia, Gastroesophageal reflux, Bruxism, Abnormal repetitive manner... OMIM:619297
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response OMIM:620327
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Feeding difficulties in ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Feeding difficulties in ... ORPHA:353277
Cockayne Syndrome Type 1
Difficulty walking, Abnormality of temperature regulation, Ataxia, Gait disturbance ORPHA:90321
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Whim Syndrome
Abnormal small intestine morphology, Tetralogy of Fallot, Parotitis ORPHA:51636
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Pulmo... OMIM:616894
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Gastroparesis, Muscular ventricular septal defect, Dysplastic tricuspi... OMIM:157800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Cryptorchidism, Optic atrophy, Feeding difficulties, Self-injurious behavior, High... OMIM:619512
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response, Feeding difficulties, Dystonia ORPHA:79255
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta OMIM:600460
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Arboleda-Tham Syndrome
Dystonia, Intestinal malrotation, Bilateral cryptorchidism, Optic atrophy, Cleft palate, Feeding ... OMIM:616268
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Self-injurious behavior, Abnormal repe... ORPHA:468631
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Feeding difficulties in infancy, Repetitive compulsive behavior, Cleft palate, Pineal cyst, Stere... ORPHA:513456
Marfan Syndrome
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... OMIM:154700
Alström Syndrome
Optic disc pallor, Decreased response to growth hormone stimulation test, Portal hypertension, Te... ORPHA:64
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Bruxism, Abnormal repeti... OMIM:616393
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis,... OMIM:614609
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr... ORPHA:261537
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Hiatus hernia, Aggressive behavior, Hand tremor, Chronic constipation, Gastroesoph... OMIM:614756
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Keutel Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h... OMIM:245150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Cryptorchidism, Abnormality of the ant... ORPHA:438213
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Contracture of the proximal int... OMIM:601559
Joubert Syndrome 6
Abnormal repetitive mannerisms, Bile duct proliferation OMIM:610688
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Liver Disease, Severe Congenital
Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Biliary hype... OMIM:619991
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Ogden Syndrome
Tube feeding, Torticollis, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties, Hydroce... OMIM:300855
Coffin-Siris Syndrome 12
Facial palsy, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard ... OMIM:619325
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Feeding difficulties, Anteriorly placed anus, High palate, ... OMIM:618653
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Optic nerve hypoplasia, Gastroparesis, Submucous c... ORPHA:500150
Hyperlysinemia
Short attention span, Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, Hypsarrhythmia, EEG abnormality, Gastroesophageal reflux, Abnormal repetitive manne... OMIM:301044
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Hypotonia, Ataxia, And Delayed Development Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Gastroesophageal reflux, Dysphagia OMIM:617330
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Feeding difficulties, Abnormal optic disc morphology, Abnor... ORPHA:508498
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infec... ORPHA:293987
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery a... OMIM:614437
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Biliary hyperplasia, Pancre... ORPHA:731
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Wolf-Hirschhorn Syndrome
Cryptorchidism, Malrotation of small bowel, Cleft palate, EEG abnormality, Gastroesophageal reflu... OMIM:194190
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi... ORPHA:198
Mowat-Wilson Syndrome
Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Cleft hard palate... ORPHA:2152
Deeah Syndrome
Decreased circulating free T4 concentration, Abnormality of temperature regulation, Decreased cir... OMIM:619004
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Cryptorchidism, Feeding difficulties, Hydrocele testis, High palate... OMIM:619522
Fraser Syndrome 1
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal heart morphology, Abn... OMIM:219000
Unilateral Polymicrogyria
Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Cryptorchidism, Optic atrophy, High palate, Abnormal repetitive mannerisms OMIM:309590
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Microcephaly ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior, Inappropriate laughter, Microcephaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior, Inappropriate laughter, Microcephaly ORPHA:363958
Norrie Disease
Cryptorchidism, Optic atrophy, Irritability, Self-injurious behavior, EEG abnormality, Attention ... ORPHA:649
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial ... OMIM:214800
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Constipation, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Self-injurious behavior, High palate, Abnormal repetitive mannerisms, Bifid uvula OMIM:612474
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Mend Syndrome
Abnormal social behavior ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Primrose Syndrome
Restlessness, Aggressive behavior, Bilateral cryptorchidism, Cryptorchidism, Self-injurious behav... OMIM:259050
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Williams Syndrome
Overfriendliness, Abnormal social behavior, Microcephaly 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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