Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230

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

Disease Similarity of
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Dementia OMIM:618564
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Abnormal neuron morpholo... ORPHA:412066
Developmental And Epileptic Encephalopathy 56
EEG abnormality, Anxiety OMIM:617665
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pul... OMIM:268500
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Constipation, Facial palsy, Third degree atrioventricular block, Diar... OMIM:601419
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Ineffective esophag... OMIM:619350
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Gastroesophageal reflux OMIM:618097
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Creutzfeldt-Jakob Disease
Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Abnormality of the autonomic nervou... OMIM:611376
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression OMIM:614296
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, In... OMIM:600274
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Villous atrophy, Abnormal intestine morphology OMIM:251850
Geniospasm 1
Anxiety OMIM:190100
Progressive Non-Fluent Aphasia
Depression, EEG with continuous slow activity, Frontotemporal dementia, Abnormal lower motor neur... ORPHA:100070
Increased serum serotonin, EEG abnormality, Stereotypy, Impaired ability to form peer relationshi... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use ... OMIM:300496
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use ... OMIM:300495
Autism, Susceptibility To, 8
Increased serum serotonin, EEG abnormality, Stereotypy, Impaired ability to form peer relationshi... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, EEG abnormality, Lack of peer relationships, Stereotypy, Impaired use ... OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, EEG abnormality, Stereotypy, Impaired ability to form peer relationshi... OMIM:608636
Neuropathy, Painful
Fever OMIM:256870
Mental Retardation, Autosomal Dominant 52
Anxiety OMIM:617796
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Personality disorder, Aggressive behavior, Depression OMIM:615005
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Sagliker Syndrome
Anxiety, Depression ORPHA:300493
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior OMIM:618286
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Achalasia, Orthostatic hypotension, Decreased nerve... OMIM:252320
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Villous atrophy, Diarrhea, Protein-losing enteropathy OMIM:615863
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Vomiting ORPHA:79159
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy OMIM:613217
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Achalasia ORPHA:3239
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Pneumonia, Right ventricular hypertrophy, Calf muscle ps... OMIM:253700
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Anxiety OMIM:602066
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... OMIM:619279
Chorea, Benign Hereditary
Anxiety OMIM:118700
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Right ventricular failure, Abnormal respirator... ORPHA:70589
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon, Steatorrhea, ... ORPHA:95427
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Hemiparesis, Achalasia OMIM:615750
Dilated cardiomyopathy OMIM:251220
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Huntington Disease-Like 1
Anxiety, Aggressive behavior, Dementia, Depression OMIM:603218
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, High palate, Facial palsy OMIM:615959
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Myopathy, Distal, 1
Dilated cardiomyopathy, High palate, Facial palsy OMIM:160500
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Sotos Syndrome 3
Hyperactivity OMIM:617169
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Vomiting, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614299
Baker-Gordon Syndrome
Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux, Hyperkinetic movements, A... OMIM:618218
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Anxiety, Depression OMIM:619191
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Immunodeficiency 31C
Villous atrophy, Diarrhea, Abnormal intestine morphology OMIM:614162
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontot... OMIM:172700
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Triple A Syndrome
Optic atrophy, Achalasia, Ataxia, Anterior hypopituitarism ORPHA:869
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Frontalis muscle weakness, Facial palsy OMIM:300580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Diarrhea, Vomiting OMIM:602579
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Nemaline Myopathy 3
Dilated cardiomyopathy, Dysphagia, High palate, Facial palsy OMIM:161800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pontiac Fever
Fever ORPHA:99748
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Nausea, Facial palsy, Diarrhea, Dilated cardiomyopathy OMIM:615084
American Trypanosomiasis
Abdominal pain, Aganglionic megacolon, Achalasia, Diarrhea, Abnormal large intestine physiology ORPHA:3386
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder With Seizures And Language Delay
Anxiety, EEG with spike-wave complexes (2.5-3.5 Hz), Increased theta frequency activity in EEG, E... OMIM:619000
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, Congest... ORPHA:324604
Congenital Disorder Of Glycosylation, Type Id
Hypsarrhythmia, Villous atrophy, Hypertonia, Bifid uvula, Diarrhea, Vomiting, High palate, Optic ... OMIM:601110
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Achalasia, Ataxia OMIM:609033
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Macroglossia, Triangular tongue, Reduced systolic function OMIM:616827
Dysphagia, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Hypoperistalsis, A... ORPHA:167635
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Abnormal autonomic nervous system ... OMIM:231550
Endocardial Fibroelastosis
Endocardial fibroelastosis, Cryptorchidism, Congestive heart failure, Cardiomyopathy OMIM:226000
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Diarrhea, Hypovolemia ORPHA:2290
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Facial palsy OMIM:602541
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Pro... OMIM:610198
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... ORPHA:98818
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Nasogastric tube fe... ORPHA:1018
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, High palate, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Neuromuscular dysphagia, High palate ORPHA:171442
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Dysphagia, High palate, Facial palsy OMIM:255310
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Fever OMIM:128235
Intellectual Disability-Alacrima-Achalasia Syndrome
Delayed social development, Dysphagia, Achalasia, Aggressive behavior ORPHA:289483
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Decreased response to growth hormone stimuation test ORPHA:436174
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Macrophagic Myofasciitis
Fever ORPHA:592
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Diffuse alveolar hemorrhage, Episodic vomiting, Enterocolitis, Secretory diarrhea OMIM:616050
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Dysphagia, Apathy, Amyotrophic lateral sclerosis, Emotional lability, Stereotypy, Babinski sign, ... OMIM:612069
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Developmental And Epileptic Encephalopathy 58
Feeding difficulties, Hypsarrhythmia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Dystonia, Juvenile-Onset
Achalasia, Cleft palate OMIM:607371
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Coa... ORPHA:1209
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Fatigab... ORPHA:206559
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Truncus Arteriosus
Abnormal heart valve physiology, Cardiomegaly, Pulmonary artery stenosis, Pulmonary edema, Truncu... ORPHA:3384
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Cryptorchidism, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:252011
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Stereotypy OMIM:606053
Anxiety, Depression ORPHA:770
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Tremor, Feeding difficulties, Speech apraxia, Chorea, Hyperkinetic movements, Achala... OMIM:615356
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Tetrasomy 18P
Achalasia ORPHA:3307
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Abnormal intestine morphology, Celiac disease, Achalasia OMIM:615952
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Paten... OMIM:614261
Salih Myopathy
Dilated cardiomyopathy, Facial palsy, Arrhythmia OMIM:611705
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Dysphagia, Abnormal social behavior, Nasogastric tu... ORPHA:391417
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Hypertr... OMIM:302060
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dysphagia, Nausea, Diarrhea, Dilated cardiomyopathy ORPHA:352447
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Feeding difficulties, Dysphagia, Abnormal autonomic nervous system physi... OMIM:615510
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Malonyl-Coa Decarboxylase Deficiency
Constipation, Vomiting, Chronic constipation, Diarrhea, Left ventricular noncompaction cardiomyop... OMIM:248360
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Anteverted nares, Right ventricular hypertrophy, Hypertension OMIM:613623
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Macroglossia, Achalasia ORPHA:79107
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Arrhythmia, Dilated cardiomyopathy OMIM:181350
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Dilated cardiomyopathy ORPHA:263494
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology ORPHA:1208
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Nemaline Myopathy 11, Autosomal Recessive
High palate, Facial palsy, Cardiomyopathy OMIM:617336
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Abnormal fear/anxiety-related behavior ORPHA:208441
Congenital Tufting Enteropathy
Optic disc coloboma, Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Spinocerebellar Ataxia 12
Anxiety, Dementia, Depression OMIM:604326
Attrv30M Amyloidosis
Arrhythmia, Constipation, Abnormal autonomic nervous system physiology, Atrioventricular block, D... ORPHA:85447
Feingold Syndrome Type 2
Anxiety, Emotional lability ORPHA:391646
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Vomiting, Cardiomegaly, Ventricular tachycardia OMIM:600649
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal mitral valve morphology, Constipa... ORPHA:732
Atypical Rett Syndrome
Impaired social interactions, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Feeding difficul... ORPHA:3095
Fever ORPHA:3389
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries ORPHA:2229
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsi... ORPHA:2241
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Colitis OMIM:614602
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Foxg1 Syndrome
Impaired social interactions, Feeding difficulties, Poor eye contact, Constipation, Gastroesophag... ORPHA:561854
Migraine, Familial Hemiplegic, 1
Anxiety OMIM:141500
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Chronic diarrhea, Reduced systolic function OMIM:618805
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Adiposis Dolorosa
Anxiety, Depression OMIM:103200
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Rolandic Epilepsy
Depression, Emotional lability, EEG with centrotemporal focal spike waves, Anxiety, EEG with irre... ORPHA:1945
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cyclic Neutropenia
Fever OMIM:162800
Raynaud-Claes Syndrome
Anxiety, Bipolar affective disorder, Aggressive behavior, Depression OMIM:300114
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Irritability, Abnormal fear/anxiety-related beha... ORPHA:3077
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Feeding difficulties, Stereotypy, Spasticity OMIM:617393
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Nasogastric tube feeding, Hypsarrhythmia, Irritability, Stereotypical hand wringing, Feeding diff... ORPHA:500545
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Abnormal synaptic transmission at the neuromuscular junct... ORPHA:98915
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Chronic diarrhea, Ileitis, Protein-losing enteropathy, Pancolitis, Gastr... OMIM:619079
Mirage Syndrome
Cryptorchidism, Gastroesophageal reflux, Chronic diarrhea, Achalasia, Esophageal stricture, Decre... OMIM:617053
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, Decreased testicular ... ORPHA:280679
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Internal ... ORPHA:90308
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Posterior Cortical Atrophy
Memory impairment, Inertia, Anxiety ORPHA:54247
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia, Torticollis OMIM:217150
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Anxiety, Dementia OMIM:204200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Abnormal left ventricle morphology, Dilated cardiomyopathy, Decreased testic... OMIM:300845
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormal mitral valve morphology, Abnormality of the gastroin... ORPHA:1876
Refractory Celiac Disease
Jejunitis, Villous atrophy, Chronic diarrhea, Protein-losing enteropathy, Malabsorption ORPHA:398063
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Pontocerebellar Hypoplasia, Type 11
Dysphagia, Poor eye contact, Poor coordination, Limb ataxia, Ataxia, Happy demeanor, Stereotypy, ... OMIM:617695
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, EEG abnormality, S... OMIM:619150
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Trisomy X
Cognitive impairment, Anxiety, Depression ORPHA:3375
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Gastroparesis, Intestinal pseudo-obstruction OMIM:607459
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Splenomegaly, Abnormality of the p... ORPHA:290
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Intellectual Developmental Disorder, X-Linked 98
Feeding difficulties, Hypsarrhythmia, Poor eye contact, Gastroesophageal reflux, Ataxia, Stereoty... OMIM:300912
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Hyperprolinemia, Type I
Stereotypy, EEG abnormality, Aggressive behavior, Ataxia OMIM:239500
Febrile Infection-Related Epilepsy Syndrome
Fever, Lethargy ORPHA:163703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricu... OMIM:208085
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy ORPHA:272
Spinocerebellar Ataxia 48
Irritability, Mental deterioration, Anxiety, Depression OMIM:618093
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Interictal epileptiform activity, Anxiety, Cognitive impairment, EEG with focal spike... ORPHA:98784
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemorrhage ORPHA:335
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
O'Donnell-Luria-Rodan Syndrome
Anxiety, Self-injurious behavior, Skin-picking, Aggressive behavior OMIM:618512
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Periodic Fever, Menstrual Cycle-Dependent
Fever, Increased circulating cortisol level OMIM:614674
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Aggressive behavior, Abnormality of extrapyramidal motor function, Apathy, EE... ORPHA:275864
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Esophageal varix, Congestive heart failure, Dilated cardiomyopathy, Po... ORPHA:367
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety OMIM:616977
Bare Lymphocyte Syndrome, Type Ii
Protracted diarrhea, Villous atrophy, Malabsorption, Colitis OMIM:209920
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Clumsiness, Poor motor coordination, Dysphagia, Poor fine motor coord... ORPHA:79264
Mental Retardation, X-Linked, Syndromic 17
Dysphagia, Achalasia OMIM:300858
Wolfram-Like Syndrome
Anxiety, Dementia, Depression ORPHA:411590
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Chronic diarrhea, Esophageal stricture OMIM:613989
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Self-injurious behavior, Hyperkinetic ... ORPHA:397933
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Abnormal heart morphology, Ventricular septal defect,... ORPHA:84064
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, High palate ORPHA:59135
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Anxiety, Depression ORPHA:71517
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Aggressive behavior, Constipation, Aganglionic megacolon, Ileus, St... OMIM:300352
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus OMIM:304790
Xq28 (MECP2) duplication
Gait ataxia, Dysphagia, Constipation, Gastroesophageal reflux, Anxiety, Stereotypy, Progressive s... DECIPHER:45
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
Dopa-Responsive Dystonia
Tremor, Abnormality of extrapyramidal motor function, Abnormal social behavior, Constipation, Slu... ORPHA:255
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Feeding diffic... OMIM:613670
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety OMIM:618970
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety OMIM:261600
Alpha-B Crystallin-Related Late-Onset Myopathy
Dysphagia, Facial diplegia, Cardiomyopathy ORPHA:399058
Kosaki Overgrowth Syndrome
Progressive neurologic deterioration, Anxiety, Depression OMIM:616592
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Stereotypy, Babinski sign, High palate, Progressive spastic paraplegia, Spastic dysarthr... ORPHA:280763
Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to involunta... OMIM:200150
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Huntington Disease
Disinhibition, Aggressive behavior, Depression, Apathy, Bradyphrenia, Hostility, Irritability, An... ORPHA:399
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Left ventri... OMIM:619167
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Dystonia, Progressive cerebellar ataxia ORPHA:98757
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Midgut malrotation, Bilateral cryptorchidism, Hear... ORPHA:2326
Autosomal Recessive Non-Syndromic Intellectual Disability
Nasogastric tube feeding, EEG with generalized epileptiform discharges, EEG with focal epileptifo... ORPHA:88616
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Stereotypy, Hypsarrhythmia OMIM:616341
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Intellectual Developmental Disorder With Neuropsychiatric Features
Anxiety OMIM:617532
Autism, Susceptibility To, 3
Increased serum serotonin, EEG abnormality, Stereotypy, Impaired ability to form peer relationshi... OMIM:608049
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Gastroesophage... ORPHA:313892
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Christianson Syndrome
Gait ataxia, Truncal ataxia, Dysphagia, Gastroesophageal reflux, Stereotypy, Conspicuously happy ... ORPHA:85278
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Pulmonary insufficiency, Alveolar capillary dysplasia, Pulmo... OMIM:265380
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplas... ORPHA:1926
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Dementia, Depression, Apathy, Bradyphrenia, Emotional lability, Motor deterioration, Anxiety, Cog... ORPHA:136
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Diarrhea, Malabsorption OMIM:277175
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Abnormal fear/anxiety-related behavior, Anxiety, Inappropriate behavior ORPHA:309246
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Aortic valve stenosis, Right ventricular hypertroph... OMIM:267010
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Dysphagia, Pulmonic stenosis, Congestive heart failure, Dilated c... ORPHA:70474
Succinic Semialdehyde Dehydrogenase Deficiency
Anxiety, Self-injurious behavior, EEG abnormality, Aggressive behavior OMIM:271980
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hereditary Central Diabetes Insipidus
Fever, Lethargy ORPHA:30925
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Mental Retardation, Autosomal Recessive 41
Anxiety OMIM:615637
Situs inversus totalis, Abnormal heart morphology, T-wave inversion, Abnormal pulmonary situs mor... ORPHA:1666
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Emphysema, Aortic a... ORPHA:363618
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, High palate, Cleft palate, Ventricular septal defect OMIM:616730
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Villous atrophy, Pulmonic stenosis, Diarrhea, Bi... OMIM:222470
Al Amyloidosis
Macroglossia, Arrhythmia, Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage... ORPHA:85443
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Rett Syndrome, Congenital Variant
Impaired social interactions, Apraxia, Feeding difficulties, Poor eye contact, Constipation, Gast... OMIM:613454
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Autism, Susceptibility To, 18
Anxiety OMIM:615032
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Bundle branch block, Scapular winging, Abnormal mitral valve morphology, Abnormal end... ORPHA:500
Perry Syndrome
Disinhibition, Depression, Apathy, Frontotemporal dementia, Anxiety, Inappropriate behavior, Suic... OMIM:168605
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Constipat... ORPHA:550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Vomiting, Diarrhea, Prolonged QT interval, Dilated cardiomyopathy,... ORPHA:71212
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Atri... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Abnormal heart morphology, Protein-losing enteropathy, Diarrhea, Vomiting, Abnorm... OMIM:608104
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Arrhythmia, Situs inversus totalis, Atrial septal defect, Ventricular septal defe... OMIM:249270
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Self-injurious behavior, EEG abnormality OMIM:618760
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Dysphagia, Optic nerve hypoplasia, Dilated cardiomyopa... ORPHA:261250
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Dementia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hyperte... OMIM:540000
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior OMIM:300558
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Blepharospasm, Emotional ... OMIM:608643
Scimitar Syndrome
Single ventricle, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonary arter... ORPHA:185
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Bilateral Generalized Polymicrogyria
Nasogastric tube feeding, Feeding difficulties, Eyelid myoclonus, Self-injurious behavior, Gastro... ORPHA:208447
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Chronic diarrhea, Chronic atrophic gastriti... OMIM:614700
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Propionic Acidemia
Constipation, Arrhythmia, Cardiomyopathy ORPHA:35
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Fraxe Intellectual Disability
Recurrent hand flapping, Clumsiness, Aggressive behavior, Stereotypical body rocking ORPHA:100973
Arterial Tortuosity Syndrome
Esophagitis, Hiatus hernia, Median cleft lip and palate, Gastroesophageal reflux, Hypertension, T... ORPHA:3342
Xq25 Microduplication Syndrome
Anxiety ORPHA:521258
Xq25 Duplication Syndrome
Anxiety OMIM:300979
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation ORPHA:2926
Cirrhosis, Familial
Fever, Lethargy OMIM:215600
Burning Mouth Syndrome
Emotional lability, Depression, Anxiety, Abnormality of somatosensory evoked potentials ORPHA:353253
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive behavior, EEG with pho... ORPHA:168491
Chromosome 3Q29 Deletion Syndrome
Anxiety, Aggressive behavior OMIM:609425
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
Mcleod Syndrome
Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale, Renovascular hypertension, Esophageal carcinoma, Villous atrophy, Congestiv... ORPHA:391487
Alazami Syndrome
Anxiety OMIM:615071
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Narcolepsy, Dementia OMIM:604121
Angelman Syndrome
Nasogastric tube feeding, Vomiting, Happy demeanor, Aggressive behavior, Abnormality of the gastr... ORPHA:72
Inherited Creutzfeldt-Jakob Disease
Akinetic mutism, Dementia, EEG with persistent abnormal rhythmic activity, Depression, Apathy, Em... ORPHA:282166
Fabry Disease
Abdominal pain, Achalasia, Anorexia, Anxiety, Optic atrophy, Nausea and vomiting, Malabsorption ORPHA:324
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Potocki-Lupski Syndrome
Poor eye contact, Gastroesophageal reflux, Oral-pharyngeal dysphagia, EEG abnormality, Stereotypy... OMIM:610883
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Poor coordination, Ataxia, Recurrent hand flapping, High pa... ORPHA:544254
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Macroglossia, Abnormal left ventricular function OMIM:607155
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Self-injurious behavior, EEG abnormality, Stereotypy, Spasticity OMIM:618718
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Cryptorchidism, Self-mutilation, Overfriendliness, Aggressive be... OMIM:123450
Cln5 Disease
EEG with spike-wave complexes, Aggressive behavior, EEG with generalized slow activity, Multifoca... ORPHA:228360
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis, Prominent nasal bridge, Abnormal mitral v... ORPHA:1131
Coproporphyria, Hereditary
Anxiety, Depression OMIM:121300
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, High palate, Cleft palate, Ventricular septal defect OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cognitive impairment, Anxiety, Aggressive behavior, Depression OMIM:615157
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Constipation, Gastroesophageal reflux, Abnormal es... ORPHA:89842
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Feeding difficulties, Dysphagia, Constipation, Ataxia, Protruding tongue, EEG abnormality... ORPHA:98794
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Bifid uvula, Tachycardia, Cleft palate, Dilated cardiomyopathy, Aborted sud... OMIM:614921
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Fatigable weakness, Congestive heart failure, Dilate... ORPHA:99901
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Goiter, Dysphagia, C... ORPHA:254892
Coffin-Siris Syndrome 6
Tics, Constipation, Gastroesophageal reflux, Anxiety, Stereotypy, Cleft palate, High, narrow palate OMIM:617808
Cyclic Vomiting Syndrome
Vomiting, Nausea, Gastrointestinal dysmotility, Cardiomyopathy OMIM:500007
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea OMIM:606367
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Nasogastric tube feeding, Self-injurious behavior, EEG abnormality, Recurrent hand flapping, High... OMIM:617268
48,Xxyy Syndrome
Cryptorchidism, Tremor, Constipation, Gastroesophageal reflux, Ataxia, Anxiety, Stereotypy, Cleft... ORPHA:10
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal de... ORPHA:2847
Autosomal Dominant Non-Syndromic Intellectual Disability
Feeding difficulties, Chorea, Eyelid myoclonus, Self-injurious behavior, Gastroesophageal reflux,... ORPHA:178469
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Atrioventricular bl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Atrioventricular bl... ORPHA:98853
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Athetoid cerebral palsy, EEG with spike-wave complexes, EEG with series of focal... ORPHA:522077
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Spastic diplegia, Intestinal pseudo-obstruction, Congenital shortened sma... OMIM:300048
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Chorea, Hyperkinetic movements, Gastrostomy tube feeding... OMIM:619317
Systemic Sclerosis
Pericarditis, Abnormal esophagus morphology, Abnormal large intestine morphology, Myocarditis, Pu... ORPHA:90291
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Unsteady gait, Decreased circulating progesterone, Fever OMIM:603896
Abnormal stomach morphology, Intestinal bleeding, Pericarditis, Right ventricular failure, Inters... ORPHA:801
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Upper limb spasticity, Decreased testicular size, Hyperkinetic movements... ORPHA:457240
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety OMIM:618725
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hypertrophic c... OMIM:230500
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Feeding difficulties, Nausea, Ataxia, Emotional lability, Reye syndrome-like episodes, Diarrhea, ... ORPHA:927
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Apathy, Constipation, Nausea, Abnormal autonomic nervous sy... ORPHA:2828
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior ORPHA:101039
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Anxiety, Aggressive behavior, Decreased nerve conduction velocity OMIM:618356
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Constipation, Abnormal autonomic nervous sy... OMIM:105210
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Atrioventricular bl... ORPHA:98855
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Tetraparesis, Stereotypy ORPHA:85277
Hyperactivity ORPHA:2157
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Generalized Epilepsy With Febrile Seizures-Plus
Cognitive impairment, EEG with spike-wave complexes, Anxiety ORPHA:36387
Smith-Magenis Syndrome
Self-mutilation, Constipation, Head-banging, EEG abnormality, Stereotypy, Velopharyngeal insuffic... OMIM:182290
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Dementia, Depression, Anxiety, Decreased nerve conduction v... ORPHA:329478