Gene: Hand2 MGI:103580

Registered for phenotyping at IMPC

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

Gene Summary

Name:

heart and neural crest derivatives expressed 2

Synonyms:

Hed, Thing2, Ehand2, dHAND, bHLHa26

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 Hand2 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.

Human diseases associated with Hand2 (1 diseases)
Human diseases predicted to be associated with Hand2 (708 diseases)

The table below shows human diseases associated to Hand2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Isolated Dilated Cardiomyopathy		Dilated cardiomyopathy	ORPHA:154

The table below shows human diseases predicted to be associated to Hand2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Orofacial Cleft 11	Cleft palate, Cleft lip	OMIM:600625
Syngnathia	Cleft palate	OMIM:119550
Pierre Robin Syndrome	Cleft palate, Pierre-Robin sequence, Glossoptosis	OMIM:261800
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Dysphagia	OMIM:617732
Pierre Robin Sequence With Facial And Digital Anomalies	Cleft palate, Pierre-Robin sequence, Glossoptosis	OMIM:311895
Cardiomyopathy, Dilated, 1M	Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f...	OMIM:607482
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Left Ventricular Noncompaction 1	Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia...	OMIM:604169
Pierre Robin Syndrome And Oligodactyly	Cleft palate, Pierre-Robin sequence	OMIM:172880
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Cardiomyopathy, Dilated, 2A	Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e...	OMIM:611880
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent...	OMIM:613255
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Uvula, Bifid	Bifid uvula	OMIM:192100
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail...	OMIM:601493
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cleft palate, Tooth agenesis, Non-midline cleft lip	ORPHA:1074
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre...	OMIM:606685
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:613286
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre...	OMIM:615396
Congenital Laryngomalacia	Cleft palate, Non-midline cleft lip	ORPHA:2373
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure, Intrauterine growth retardation	OMIM:301021
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve...	OMIM:615373
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red...	OMIM:604765
2q33.1 deletion syndrome	Cleft palate, High palate	DECIPHER:51
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi...	OMIM:605362
Lambert Syndrome	Malar flattening, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cleft Palate, Isolated	Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Hydrops Fetalis	Polyhydramnios, Abnormality of the neck, Lymphedema, Pericardial effusion, Nonimmune hydrops feta...	ORPHA:1041
Cleft Palate-Lateral Synechia Syndrome	Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth	ORPHA:2016
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Robin Sequence-Oligodactyly Syndrome	Cleft palate, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Death in infancy	OMIM:258320
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure	ORPHA:217622
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 23	Cardiomyopathy, Congestive heart failure, Intrauterine growth retardation, Arrhythmia	OMIM:616198
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft palate, Ankyloglossia, Bifid uvula	OMIM:303400
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Intellectual Developmental Disorder, X-Linked 90	Bifid uvula, High palate, Attention deficit hyperactivity disorder	OMIM:300850
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge...	OMIM:613694
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal...	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure, Intrauterine growth retardation, Postnatal...	OMIM:615440
Long Qt Syndrome 13	Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ...	OMIM:614980
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Coronary Arterial Fistula	Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat...	ORPHA:2041
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
Atrial Standstill	Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa...	ORPHA:1344
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple...	ORPHA:2414
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate	OMIM:119300
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Glossitis	OMIM:234500
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia	ORPHA:99772
Cardiomyopathy, Familial Hypertrophic, 27	Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc...	OMIM:618052
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti...	ORPHA:3400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Adducted Thumbs Syndrome	High palate, Velopharyngeal insufficiency, Dysphagia, Cleft palate, High, narrow palate	OMIM:201550
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve...	OMIM:615248
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-...	ORPHA:75566
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cleft Lip With Or Without Cleft Palate	Non-midline cleft lip, Median cleft lip and palate, Median cleft lip, Non-midline cleft palate, S...	ORPHA:1991
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert...	ORPHA:860
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven...	ORPHA:206546
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Cantu Syndrome	Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus...	OMIM:239850
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea...	OMIM:613697
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated...	OMIM:255160
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta...	OMIM:611705
Familial Dilated Cardiomyopathy	Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy...	ORPHA:217607
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge...	OMIM:614096
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W...	ORPHA:45453
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Cardiomegaly, Persiste...	ORPHA:363705
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm...	ORPHA:1345
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact...	OMIM:616501
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Dysphagia, Tongue fasciculations, Tongue atrophy	OMIM:613435
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula	OMIM:256200
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Int...	OMIM:619048
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in...	OMIM:261740
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter...	ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:617228
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Microglossia	ORPHA:141152
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Congenital Gerbode Defect	Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent...	ORPHA:99095
Peripartum Cardiomyopathy	Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul...	ORPHA:563
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Cleft palate, Bifid uvula, Submucous cleft hard palate	ORPHA:2521
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate	OMIM:137215
Familial Atrial Myxoma	Pedal edema, Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failur...	ORPHA:615
Birk-Barel Syndrome	High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Dysphagia, Tented upper li...	OMIM:612292
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Short neck, Encephalocele	OMIM:613885
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Congestive heart failure, Stillbirth, Neonatal death, Intrauteri...	OMIM:619751
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia	ORPHA:871
Mulibrey Nanism	Hydrops fetalis, Pericardial constriction, Short stature, Congestive heart failure, Myocardial fi...	OMIM:253250
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C...	OMIM:601494
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge...	OMIM:618773
Congenital Disorder Of Glycosylation, Type Il	Abnormal cardiac septum morphology, Pericardial effusion, Edema, Short neck, Ascites	OMIM:608776
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Cleft palate, Glossoptosis	ORPHA:166100
Classic Multiminicore Myopathy	Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Short stature, Mitral ...	ORPHA:324604
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail...	OMIM:540000
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Agenesis of lateral incisor, Velopharyng...	ORPHA:199306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Coffin-Siris Syndrome 11	High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o...	OMIM:618779
Lethal Omphalocele-Cleft Palate Syndrome	Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip	ORPHA:2736
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath...	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure, Intrauterine growth retardation	OMIM:616045
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ...	ORPHA:1194
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Idiopathic Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S...	ORPHA:275766
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Micrognathia, Hypoplasia of the...	ORPHA:1131
Atrial Septal Defect, Sinus Venosus Type	Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl...	ORPHA:99105
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec...	OMIM:617300
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Cardiac Diverticulum	Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,...	ORPHA:1686
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Aortic Arch Interruption	Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu...	ORPHA:2299
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,...	OMIM:617222
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop...	OMIM:610198
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Limb hypertonia, Short stature, Pericardial effusion, Aortic aneurysm, Atrial sep...	OMIM:620070
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK...	ORPHA:85451
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa...	ORPHA:99106
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Microglossia, ...	OMIM:614669
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:618234
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Ebstein Malformation Of The Tricuspid Valve	Sudden cardiac death, Patent ductus arteriosus, Imperforate tricuspid valve, Right bundle branch ...	ORPHA:1880
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Catel-Manzke Syndrome	Cleft palate, Oral synechia, Glossoptosis	ORPHA:1388
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F...	OMIM:616866
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth	OMIM:183300
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Flexion contracture, Short stature, Predominantly lower limb lymphedema,...	ORPHA:261519
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi...	OMIM:618775
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ...	ORPHA:439
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	ORPHA:324588
Desminopathy	Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges...	ORPHA:98909
Cardiomyopathy, Familial Hypertrophic, 6	Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ...	OMIM:600858
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Dysphagia, Tongue atrophy	ORPHA:496689
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Ventricular septal defect, Short stature, Cardiac arrest, Congesti...	ORPHA:49827
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red...	OMIM:300257
Hemochromatosis, Type 2A	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:602390
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Poirier-Bienvenu Neurodevelopmental Syndrome	Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum	OMIM:618732
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve...	OMIM:163800
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Bifid uvula, Submucous cleft hard palate	OMIM:619239
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth	OMIM:217150
Arterial Calcification, Generalized, Of Infancy, 2	Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni...	OMIM:614473
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr...	ORPHA:216694
Infantile Sialic Acid Storage Disease	Cardiomegaly, Ascites, Hydrops fetalis, Congestive heart failure	OMIM:269920
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure	OMIM:236750
Aorta Coarctation	Pulmonary arterial hypertension, Patent ductus arteriosus, Aortic valve atresia, Perimembranous v...	ORPHA:1457
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi...	OMIM:212140
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Plummer-Vinson Syndrome	Esophageal web, Tongue atrophy, Glossitis, Geophagia, Narrow mouth, Intra-oral hyperpigmentation,...	ORPHA:54028
Burning Mouth Syndrome	Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to...	ORPHA:353253
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho...	OMIM:314400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula...	OMIM:616249
Congenital Enterovirus Infection	Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascit...	ORPHA:292
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy	OMIM:613313
Absence Of The Pulmonary Artery	Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor...	ORPHA:980
Orofaciodigital Syndrome Xix	Lobulated tongue, High palate, Narrow palate, Cleft soft palate, Tongue nodules, Microdontia, Hyp...	OMIM:620107
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C...	ORPHA:34217
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Premature coronary artery atherosclerosis, Congestive heart failure, Hyper...	OMIM:615703
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy	ORPHA:91130
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge...	OMIM:619313
Lipoid Proteinosis	High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo...	ORPHA:530
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,...	ORPHA:330001
Gm1-Gangliosidosis, Type I	Hydrops fetalis, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath...	OMIM:230500
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Isolated Childhood Apraxia Of Speech	Submucous cleft hard palate, High, narrow palate	ORPHA:209908
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo...	ORPHA:26793
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Lip pit, Non-midline cleft lip	ORPHA:1072
Arterial Calcification, Generalized, Of Infancy, 1	Carotid artery calcification, Cardiomegaly, Short stature, Abdominal aortic calcification, Hypert...	OMIM:208000
Dk1-Cdg	Interstitial cardiac fibrosis, Short stature, Dilated cardiomyopathy, Congestive heart failure, C...	ORPHA:91131
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg...	ORPHA:1349
Scimitar Syndrome	Truncus arteriosus, Hypoplasia of the diaphragm, Heart block, Abnormal hemidiaphragm morphology, ...	ORPHA:185
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he...	ORPHA:36412
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	OMIM:609166
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis	ORPHA:163596
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Patent ductus arteriosus, Patent foramen ovale, Right ventric...	ORPHA:99094
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Hypodontia, Submucous cleft hard palate, Glossoptosis, High, narrow palate	ORPHA:3201
Aicardi-Goutieres Syndrome 9	Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ...	OMIM:619487
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal...	ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr...	OMIM:607450
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia	ORPHA:157973
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	OMIM:606703
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Polyhydramnios, Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Co...	ORPHA:367
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval, Pericardial effusion	ORPHA:231111
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ...	ORPHA:99050
American Trypanosomiasis	Achalasia, Congestive heart failure, Arrhythmia, Edema, Periorbital edema, Myocarditis, Cardiomyo...	ORPHA:3386
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft palate, Cleft lip	OMIM:612370
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Polyhydramnios, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial hyp...	ORPHA:500533
Mucopolysaccharidosis, Type Ix	Bifid uvula, Submucous cleft hard palate	OMIM:601492
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, Muscle fibe...	ORPHA:206569
Sandhoff Disease	Congestive heart failure	ORPHA:796
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ventricular septal defect, Joint contracture of the hand, Delayed eruption of teeth, Pericardial ...	OMIM:235510
Hemochromatosis, Type 1	Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Cardiomegaly, Ascites, Ca...	OMIM:235200
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Pseudoxanthoma Elasticum	Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit...	OMIM:264800
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Atypical Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Impulsivity, Tongue atrophy	ORPHA:216873
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Smooth philtrum, Esophageal atresia	OMIM:614526
Gaucher Disease Type 1	Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Delayed puberty, Growth delay...	ORPHA:77259
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy...	OMIM:310200
Atrial Septal Defect, Ostium Secundum Type	Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi...	ORPHA:99103
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, High palate, Median cleft lip	OMIM:155145
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized...	ORPHA:52430
Fabry Disease	Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An...	OMIM:301500
Alkuraya-Kucinskas Syndrome	Webbed neck, Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multipl...	OMIM:617822
Facioscapulohumeral Muscular Dystrophy 1	Dysphagia, Tongue atrophy	OMIM:158900
Cednik Syndrome	Congestive heart failure, Short stature	ORPHA:66631
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Pulmonary insufficiency, Short stature, Heart murmur, Dilated card...	ORPHA:2326
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio...	ORPHA:199241
Aneurysm Of Sinus Of Valsalva	Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Dila...	ORPHA:1054
Polymyositis	Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor...	ORPHA:732
Congenital Left Ventricular Aneurysm	Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm...	ORPHA:1055
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t...	OMIM:617412
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Mandibular con...	OMIM:602483
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema	ORPHA:79126
Familial Partial Lipodystrophy, Dunnigan Type	Atherosclerosis, Advanced eruption of teeth, Abnormality of skeletal muscle fiber size, Congestiv...	ORPHA:2348
Wild Type Abeta2M Amyloidosis	Abnormal tendon morphology, Abnormality of the thenar eminence, Macroglossia, Congestive heart fa...	ORPHA:85446
Refsum Disease, Classic	Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:266500
Combined Oxidative Phosphorylation Defect Type 23	Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric...	ORPHA:444013
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc...	OMIM:619167
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Myositis, Ascites	ORPHA:93552
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Whistling Face Syndrome, Recessive Form	High palate, Long philtrum, Microglossia, Narrow mouth, Whistling appearance	OMIM:277720
Primary Lipodystrophy	Hypertension, Congestive heart failure, Angina pectoris, Myopathy, Skeletal muscle hypertrophy, T...	ORPHA:90970
Hypoglossia With Situs Inversus	Hypodontia, Microglossia, High palate, Narrow mouth	OMIM:612776
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Schilbach-Rott Syndrome	Narrow mouth, Bifid uvula, Submucous cleft hard palate, Attention deficit hyperactivity disorder	OMIM:164220
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Narrow mouth	OMIM:227270
Orofaciodigital Syndrome Iii	Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth	OMIM:258850
Chromosome 18Q Deletion Syndrome	Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr...	OMIM:601808
Pparg-Related Familial Partial Lipodystrophy	Atherosclerosis, Abnormality of skeletal muscle fiber size, Hypertension, Congestive heart failur...	ORPHA:79083
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar...	OMIM:618280
Primary Intestinal Lymphangiectasia	Pericardial effusion, Pleural effusion, Edema, Growth delay, Ascites, Generalized edema	ORPHA:90362
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Deafness-Craniofacial Syndrome	Bifid tongue, Short lingual frenulum, Short philtrum, Abnormal palate morphology, Abnormality of ...	ORPHA:3241
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Barth Syndrome	Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Increased left ventricul...	OMIM:302060
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra...	ORPHA:324410
Atransferrinemia	Congestive heart failure	OMIM:209300
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Robinow Syndrome, Autosomal Dominant 2	Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ...	OMIM:616331
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Cataract-Intellectual Disability-Hypogonadism Syndrome	High palate, Short philtrum, Everted lower lip vermilion, Furrowed tongue, Tooth malposition	ORPHA:1387
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Cerebral edema, Congestive heart failure, Dilated cardiomyopathy	OMIM:611126
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti...	ORPHA:90065
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Aarskog-Scott Syndrome	Camptodactyly of finger, Short stature, Delayed eruption of teeth, Congestive heart failure, Shor...	ORPHA:915
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Tako-Tsubo Cardiomyopathy	Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris...	ORPHA:66529
Gaucher Disease Type 3	Pulmonary arterial hypertension, Mitral valve calcification, Hydrops fetalis, Pericardial effusio...	ORPHA:77261
Gm1 Gangliosidosis	Patent ductus arteriosus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:354
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, High palate, Aganglionic megacolon, Ankyloglossia, Bifid uvula, H...	OMIM:174300
Kaposiform Lymphangiomatosis	Abnormality of the neck, Epidural hemorrhage, Pericardial effusion, Epistaxis, Pleural effusion, ...	ORPHA:464329
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Congestive heart failure, Dilated ca...	ORPHA:99901
Monosomy 18Q	Patent ductus arteriosus, Absence of the pulmonary valve, Short stature, Left-to-right shunt, Sec...	ORPHA:1600
Cardiogenic Shock	Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C...	ORPHA:97292
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Cardio...	OMIM:212065
Amish Lethal Microcephaly	Cleft soft palate, Death in infancy	ORPHA:99742
Alg9-Cdg	Hydrops fetalis, Ventricular septal defect, Rhizomelia, Pericardial effusion, Torticollis, Abnorm...	ORPHA:79328
Tetrasomy 12P	Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Abnormal soft ...	ORPHA:884
Mitochondrial Trifunctional Protein Deficiency 1	Hydrops fetalis, Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Arrh...	OMIM:609015
Poems Syndrome	Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites	ORPHA:2905
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Cleft soft palate, Absent uvula, Triangular mouth, Gingival overgrowth, Abnormalit...	OMIM:618529
Mucopolysaccharidosis, Type Ii	Flexion contracture, Short stature, Delayed eruption of teeth, Congestive heart failure, Macroglo...	OMIM:309900
Oculofaciocardiodental Syndrome	Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa...	ORPHA:2712
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Bifid uvula, ...	ORPHA:137888
Myhre Syndrome	Patent ductus arteriosus, Ventricular septal defect, Birth length less than 3rd percentile, Short...	OMIM:139210
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Orofaciodigital Syndrome Iv	Lobulated tongue, High palate, Tongue nodules, Accessory oral frenulum, Cleft palate, Hamartoma o...	OMIM:258860
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Intellectual Developmental Disorder, Autosomal Dominant 58	High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v...	OMIM:618106
Juvenile Idiopathic Arthritis	Pericardial effusion, Joint swelling	ORPHA:92
Q Fever	Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Abnormal left ventricular fun...	ORPHA:781
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Congestive heart failure, Myocardial infarction, Premature coronary artery ather...	OMIM:176670
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Nonimmune hydrops fetali...	ORPHA:137667
Aymé-Gripp Syndrome	Patent ductus arteriosus, Short stature, Pericardial effusion, Camptodactyly, Radioulnar synostos...	ORPHA:1272
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Cerebral edema, Congestive heart failure, Intrauterine growth retar...	OMIM:619355
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Ventricular arrhythmia, Supraventricular arrhythmia, Atherosclerosis...	ORPHA:280365
Aicardi-Goutieres Syndrome 7	Limb hypertonia, Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy...	OMIM:615846
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia	OMIM:618183
Congenital Generalized Lipodystrophy	Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Skeletal muscle hypertrophy,...	ORPHA:528
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	ORPHA:50815
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Symptomatic Form Of Hemochromatosis Type 1	Decreased muscle mass, Elevated jugular venous pressure, Congestive heart failure, Joint swelling...	ORPHA:465508
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left vent...	ORPHA:746
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Congestive heart failur...	ORPHA:183
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Pericardial effusion, Mitral valve pr...	ORPHA:536532
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ventricular septal defect, Branchial anomaly, Bicuspid aortic valv...	ORPHA:453499
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h...	ORPHA:73224
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Severe postnatal growth retardation	ORPHA:435938
Arterial Tortuosity Syndrome	Aortic root aneurysm, Cardiac arrest, Aortic aneurysm, Congestive heart failure, Hypertension, Di...	ORPHA:3342
Congenital Tricuspid Stenosis	Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he...	ORPHA:95459
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short philtrum, Lobulated tongue, Downturned corners of mouth, Thin upper lip vermilion	OMIM:613443
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Mitral valve prolapse, Aortic aneurysm, ...	ORPHA:1900
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Pierre-Robin sequence, High palate, Thin upper lip vermilion, Open mouth, Glossoptosis	OMIM:613604
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Flexion contracture, Congestive heart failure, Atrial septal defect, Ma...	OMIM:617303
Pallister-Hall-Like Syndrome	Median cleft lip, Cleft palate, Microglossia, Death in infancy	OMIM:241800
Hydrolethalus	Gingival cleft, Bifid uvula, Submucous cleft hard palate, Cleft palate, Unilateral cleft lip	ORPHA:2189
Buratti-Harel Syndrome	High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate	OMIM:619314
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h...	ORPHA:99827
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ...	OMIM:600309
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Hypertension, Intra...	ORPHA:363618
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Cleft palate, Gl...	OMIM:616367
Clark-Baraitser syndrome	Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi...	OMIM:300602
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Pleural empyema, Congestive heart failure, Pleural effusion, Con...	ORPHA:67
Fabry Disease	Achalasia, Mucosal telangiectasiae, Short stature, Lymphedema, Transient ischemic attack, Bundle ...	ORPHA:324
Multiple Acyl-Coa Dehydrogenase Deficiency	Rhabdomyolysis, Congestive heart failure, Increased intramyocellular lipid droplets, Skeletal mus...	ORPHA:26791
Trisomy 8Q	Non-midline cleft lip, High palate, Bifid tongue, Abnormal oral frenulum morphology, Everted lowe...	ORPHA:1752
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Retinal hemorrhage, Polyhydramnios, Hydrops fetalis, Ventricular...	ORPHA:51608
Chronic Thromboembolic Pulmonary Hypertension	Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ...	ORPHA:70591
Congenital Disorder Of Glycosylation, Type Iie	Short stature, Perimembranous ventricular septal defect, Secundum atrial septal defect, Congestiv...	OMIM:608779
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Attention deficit hyperactivi...	OMIM:619103
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Skeletal myopathy, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
W Syndrome	Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Martsolf Syndrome 1	Cardiomyopathy, Short stature, Cardiac arrest, Congestive heart failure, Low posterior hairline, ...	OMIM:212720
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip	OMIM:619122
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Short stature, Congestive heart failure, Umbilical hernia	ORPHA:2505
1Q41Q42 Microdeletion Syndrome	Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Joubert Syndrome 18	Cleft palate, Lobulated tongue	OMIM:614815
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Alstrom Syndrome	Short stature, Atherosclerosis, Hypertension, Congestive heart failure, Dilated cardiomyopathy	OMIM:203800
Seckel Syndrome 10	Abdominal aortic aneurysm, Ventricular hypertrophy, Hypertension, Congestive heart failure, Sever...	OMIM:617253
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate, D...	OMIM:612938
Weill-Marchesani Syndrome 2	Patent ductus arteriosus, Ventricular septal defect, Short stature, Flexion contracture of toe, E...	OMIM:608328
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy	OMIM:619259
Arthrogryposis, Distal, Type 3	High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate	OMIM:114300
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Attention deficit hyperactivity disorder, Narrow palate, Exaggerated median tong...	ORPHA:313892
Babesiosis	Myocardial infarction, Congestive heart failure	ORPHA:108
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate	ORPHA:2001
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Patent ductus arteriosus, Patent foramen ovale, Flexion contract...	ORPHA:505248
Schimke Immuno-Osseous Dysplasia	Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Short stature, Transient isc...	ORPHA:1830
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Short stature	ORPHA:3077
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, High, narrow palate, Mitral valve prolapse,...	OMIM:612863
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Flexion contracture, Rhizomelia, Congestive heart failure, Growth delay, Dehydrat...	OMIM:616271
Hennekam Syndrome	Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Delayed eruption of t...	ORPHA:2136
Tetrasomy 5P	Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murm...	ORPHA:3309
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Hypertension, Oligohydramnios, Palpitations, Intraut...	ORPHA:525731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Hypodontia,...	ORPHA:1071
Spinocerebellar Ataxia 36	Dysphagia, Tongue fasciculations, Tongue atrophy	OMIM:614153
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cleft palate, Glossoptosis	OMIM:618356
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Oligodontia,...	OMIM:608670
Leigh Syndrome With Cardiomyopathy	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitati...	ORPHA:70474
Spinocerebellar Ataxia Type 36	Dysphagia, Attention deficit hyperactivity disorder, Tongue fasciculations, Tongue atrophy	ORPHA:276198
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short stature, Delayed eruption of teeth, Congestive heart failure, No...	ORPHA:508542
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia	ORPHA:2221
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Intestinal malrotation,...	OMIM:614701
Oligomeganephronia	Branchial cyst, Micrognathia, Secundum atrial septal defect	ORPHA:2260
Orofaciodigital Syndrome Type 10	Long philtrum, Cleft soft palate, Accessory oral frenulum	ORPHA:2756
Friedreich Ataxia	Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG	OMIM:229300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Cleft palate, Glossoptosis	ORPHA:440354
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy	OMIM:614678
Holzgreve Syndrome	Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid tongue	ORPHA:2167
Kawasaki Disease	Ascending tubular aorta aneurysm, Double outlet right ventricle with subpulmonary ventricular sep...	ORPHA:2331
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Narrow mouth, Furrowed tongue, Cleft palate, Open mouth	OMIM:615065
Distal 22Q11.2 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Malar flattening, Branchial ...	ORPHA:261330
Mucolipidosis Ii Alpha/Beta	Diastasis recti, Heart murmur, Camptodactyly, Congestive heart failure, Macroglossia, Aortic regu...	OMIM:252500
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Nonimmune hydrops fetalis, Pulmonary insufficiency, Co...	OMIM:166210
Agnathia-Otocephaly Complex	Cleft palate, Aglossia, Microglossia, Narrow mouth	OMIM:202650
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede...	ORPHA:137675
Colchicine Poisoning	Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Dehydration, M...	ORPHA:31824
Simple Cryoglobulinemia	Raynaud phenomenon, Congestive heart failure, Hypertension, Pericarditis, Myocardial infarction, ...	ORPHA:91139
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171420
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Hyperkalemic Periodic Paralysis	Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Skeletal muscle...	ORPHA:682
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, ...	ORPHA:2780
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Narrow mouth, Cleft palate	ORPHA:1790
Gitelman Syndrome	Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-...	ORPHA:358
Seckel Syndrome 2	Microdontia, Microglossia	OMIM:606744
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Attention deficit hyperactivity disorder, ...	OMIM:619680
Microscopic Polyangiitis	Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu...	ORPHA:727
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Dilated cardiomyopathy, Congestive heart failure, Skeletal muscle atrophy, Growth delay, Hematoch...	OMIM:615895
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Cerebrocostomandibular Syndrome	High palate, Cleft soft palate, Pierre-Robin sequence, Long philtrum, Anteriorly placed anus, Cle...	OMIM:117650
Tsh-Secreting Pituitary Adenoma	Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv...	ORPHA:91347
Orofaciodigital Syndrome Type 2	Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ...	ORPHA:2751
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Mandibular prognathia, Webbed neck, Ventricular septal defect, Microgna...	ORPHA:261337
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Loeys-Dietz Syndrome 5	High palate, Cleft soft palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Tented u...	OMIM:615582
African Iron Overload	Abnormal heart morphology, Congestive heart failure	ORPHA:139507
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Long philtrum, Thin vermili...	ORPHA:1358
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Microdontia, Everted lower lip v...	ORPHA:570
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Hypodontia, Ana...	ORPHA:989
Hypomandibular Faciocranial Dysostosis	Aglossia, Pursed lips	OMIM:241310
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Short stature, Abnormal aortic valve morphology, Congestive heart fai...	ORPHA:579
Orofaciodigital Syndrome Type 3	Irregular dentition, Lobulated tongue, Bifid uvula, Hamartoma of tongue, Abnormality of the denti...	ORPHA:2752
Werner Syndrome	Short stature, Atherosclerosis, Hypertension, Congestive heart failure, Myocardial infarction, Sk...	ORPHA:902
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Dental malocclusion, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Dental malocclusion, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial ...	ORPHA:352665
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pleural effusion, Pericardial effusion	ORPHA:167
Holoprosencephaly	Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Abnormal pulmonar...	ORPHA:2162
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos...	ORPHA:308552
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
Cronkhite-Canada Syndrome	Stomach cancer, Malabsorption, Intestinal polyposis, Colon cancer, Hypogeusia, Furrowed tongue, H...	ORPHA:2930
Native American Myopathy	High palate, Bifid uvula, Submucous cleft soft palate, Downturned corners of mouth, Cleft palate	ORPHA:168572
Mohr Syndrome	Lobulated tongue, High palate, Bifid tongue, Tongue nodules, Median cleft lip, Accessory oral fre...	OMIM:252100
8Q22.1 Microdeletion Syndrome	Submucous cleft hard palate, Long philtrum, Abnormality of the dentition	ORPHA:178303
Diamond-Blackfan Anemia 1	Webbed neck, Ventricular septal defect, Short stature, Hypoplasia of the radius, Congestive heart...	OMIM:105650
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue, Abnormal eating behavior, Dysphagia	ORPHA:411511
Bor Syndrome	Branchial cyst	ORPHA:107
Leigh Syndrome	Ventricular septal defect, Multiple joint contractures, Congestive heart failure, Hypertrophic ca...	ORPHA:506
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Microdontia, Microglossia, Narrow mouth, Cleft palate	ORPHA:1307
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Protruding tongue, Widely spaced teeth, Dysphagia	ORPHA:98795
Diffuse Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Flexion contracture, Congestive heart failure, Hypertensive cris...	ORPHA:220393
Stickler Syndrome, Type I	Pierre-Robin sequence, Cleft palate, Bifid uvula, Submucous cleft hard palate	OMIM:108300
Neutral Lipid Storage Myopathy	Fatty replacement of skeletal muscle, Short stature, Shoulder girdle muscle weakness, Increased i...	ORPHA:98908
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har...	ORPHA:3426
Lethal Faciocardiomelic Dysplasia	Microglossia, Narrow mouth	ORPHA:1972
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp...	OMIM:619227
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Mitral stenosis, Bifid uvula, Submucous cleft hard palate, Atrial septal defec...	OMIM:617660
Scorpion Envenomation	Rhabdomyolysis, Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle br...	ORPHA:466677
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Ankyloglossia, Microdontia, Sh...	OMIM:619950
Tropical Endomyocardial Fibrosis	Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun...	ORPHA:75565
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Congestive heart failure, Aortic regurgitation, Mitral regurgitation, ...	OMIM:123700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Left ventricular nonco...	OMIM:300967
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Ascending tubular aorta aneurysm, Hypoplastic right heart, Camptodacty...	OMIM:617403
Rhizomelic Chondrodysplasia Punctata, Type 2	High palate, Submucous cleft hard palate	OMIM:222765
Myhre Syndrome	Mandibular prognathia, Abnormal cardiac septum morphology, Gingival cleft, Abnormal lip morpholog...	ORPHA:2588
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula	OMIM:113650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Autosomal Recessive Cutis Laxa Type 1	Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Erdheim-Chester Disease	Abnormal pericardium morphology, Abnormal aortic valve morphology, Congestive heart failure, Pleu...	ORPHA:35687
Lymphangioleiomyomatosis	Lymphedema, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites	ORPHA:538
Hereditary Angioedema Type 1	Abnormal uvula morphology, Intestinal edema, Abnormal soft palate morphology, Tongue edema, Dysph...	ORPHA:100050
Avian Influenza	Pleural effusion, Rhabdomyolysis, Congestive heart failure	ORPHA:454836
Autoimmune Hemolytic Anemia	Congestive heart failure, Arrhythmia	ORPHA:98375
Waldenström Macroglobulinemia	Retinal hemorrhage, Pedal edema, Congestive heart failure, Epistaxis, Pleural effusion, Gastroint...	ORPHA:33226
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Thin upper lip vermilion, Na...	OMIM:300990
Treacher Collins Syndrome 1	Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate	OMIM:154500
Limb-Mammary Syndrome	Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate	ORPHA:69085
Brown-Vialetto-Van Laere Syndrome 1	Dysphagia, Tongue fasciculations, Tongue atrophy	OMIM:211530
Autosomal Dominant Cutis Laxa	Dilatation of the ventricular cavity, Aortic aneurysm, Congestive heart failure, Redundant neck s...	ORPHA:90348
Ethylene Glycol Poisoning	Hypotension, Cerebral edema, Pulmonary edema, Hypertension, Congestive heart failure, Shock, Prol...	ORPHA:31826
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Short stature,...	OMIM:231050
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar...	ORPHA:199302
Bazex Syndrome	Furrowed tongue	OMIM:301845
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T...	ORPHA:2250
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue	OMIM:614204
Cardiac Valvular Dysplasia 1	Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi...	OMIM:212093
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, C...	ORPHA:3260
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	<

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