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,  Ehand2,  Thing2,  dHAND,  bHLHa26

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
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
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Uvula, Bifid
Bifid uvula OMIM:192100
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Lambert Syndrome
Branchial anomaly, Malar flattening, Ventricular septal defect ORPHA:1296
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia ORPHA:99772
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cleft Soft Palate
Cleft soft palate OMIM:119570
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Conge... OMIM:615440
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:616198
Intellectual Developmental Disorder, X-Linked 90
Attention deficit hyperactivity disorder, Bifid uvula, High palate OMIM:300850
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Sandal gap, Congestive heart failure ORPHA:2022
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, Abnormal heart valve mor... ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Parc Syndrome
Cleft palate OMIM:600331
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Hartnup Disorder
Attention deficit hyperactivity disorder, Glossitis, Hyperactivity OMIM:234500
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, High palate, Dysphagia, Cleft palate OMIM:201550
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu... OMIM:616501
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Short neck, Pericardial... OMIM:613885
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:613435
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Left ventricu... OMIM:619048
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneurysm, Limb hypertonia, A... OMIM:620070
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Pulmonary arterial hyp... OMIM:619751
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Oral-pharyngeal dysphagia, Peg... ORPHA:199306
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Intrauterine grow... ORPHA:1194
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Small hand, Clinodactyly, Brachydactyly, Pericardial effusion, Short phalanx of finger, Broad finger OMIM:614684
Classic Multiminicore Myopathy
Muscular dystrophy, Limited neck flexion, Right ventricular failure, Congestive heart failure, Mu... ORPHA:324604
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum... OMIM:612292
Combined Oxidative Phosphorylation Deficiency 22
Intrauterine growth retardation, Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Mulibrey Nanism
Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, Pericardial con... OMIM:253250
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Low poste... ORPHA:261519
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... OMIM:540000
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
X-Linked Mandibulofacial Dysostosis
Webbed neck, Hypoplasia of the zygomatic bone, Micrognathia, Branchial anomaly, Abnormal mitral v... ORPHA:1131
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Cardiomegaly, Hydrops fetalis, Metaphyseal irregularity OMIM:269920
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Postnatal growth retardation, Intrauterine grow... OMIM:610198
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Verheij Syndrome
Short 5th finger, Branchial cyst, Retrognathia, Clinodactyly, Truncus arteriosus, Ventricular sep... OMIM:615583
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome OMIM:618234
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Hereditary Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Catel-Manzke Syndrome
Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes... ORPHA:98909
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Hyperactivity, Submucous cleft hard palate OMIM:619239
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Burning Mouth Syndrome
Strawberry tongue, Tongue pain, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid... OMIM:614473
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Dysphagia, Compulsive behaviors, Tongue atrophy, Impulsivity ORPHA:216873
Alkuraya-Kucinskas Syndrome
Webbed neck, Hand clenching, Arthrogryposis multiplex congenita, Clinodactyly, Overlapping toe, O... OMIM:617822
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... OMIM:314400
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilitis, Tong... ORPHA:54028
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Morbid Obesity And Spermatogenic Failure
Hypertension, Premature coronary artery atherosclerosis, Myocardial infarction, Congestive heart ... OMIM:615703
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent duc... ORPHA:980
Congenital Disorder Of Glycosylation, Type Il
Ascites, Short neck, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Small hand, Delayed eruption of teeth, Umbilica... OMIM:235510
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure OMIM:606703
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Gm1-Gangliosidosis, Type I
Severe short stature, Dilated cardiomyopathy, Congestive heart failure, Abnormal heart valve morp... OMIM:230500
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm, Ventricular septal defect, Atrial... ORPHA:185
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate ORPHA:3201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Congestive heart failure, Polyhydramnios, Atrial septal defect, Facial hyp... ORPHA:500533
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri... OMIM:619487
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture ORPHA:157973
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Arrhythmia, Achalasia, Myocarditis, ... ORPHA:3386
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Sandhoff Disease
Congestive heart failure ORPHA:796
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Umbilical hernia, Congestive heart failure, Postnatal growth retardation, D... ORPHA:423461
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Displacement of the papi... ORPHA:1329
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Co... ORPHA:99050
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Microphthalmia, Syndromic 12
Intestinal malrotation, Cleft palate, Neonatal death OMIM:615524
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Short f... OMIM:266500
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Cardiomegaly, Telangiectasia... OMIM:235200
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Absence of the pulmonary valve, Umbilical hernia, Congesti... OMIM:601808
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Cednik Syndrome
Short stature, Congestive heart failure ORPHA:66631
Fabry Disease
Congestive heart failure, Lymphedema, Transient ischemic attack, Ventricular septal hypertrophy, ... OMIM:301500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Dilatation ... ORPHA:1054
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Aarskog-Scott Syndrome
Small hand, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Umbilical hern... ORPHA:915
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Dental crowding, Exaggerated median tongue furrow, Aggressive behavior, ... ORPHA:313892
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong... ORPHA:85446
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Myhre Syndrome
Aortic valve stenosis, Clinodactyly, Overlapping toe, Ventricular septal defect, Short neck, Atri... OMIM:139210
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal femur morphology, Pleural effusion, Abnormality of the neck, Pericardial effu... ORPHA:464329
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Coronary artery... ORPHA:2348
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate OMIM:277720
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Cardiomyopathy, Camptodactyly of finger, Abnormal heart mor... ORPHA:354
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate OMIM:155145
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Ventricular tachycar... OMIM:605676
Schilbach-Rott Syndrome
Bifid uvula, Attention deficit hyperactivity disorder, Narrow mouth, Submucous cleft hard palate OMIM:164220
Pparg-Related Familial Partial Lipodystrophy
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Coronary artery... ORPHA:79083
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Pulmonary valve defects, Absence of the pul... ORPHA:1600
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death OMIM:227270
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Alg9-Cdg
Rhizomelia, Hypoplasia of the musculature, Thickened nuchal skin fold, Flared metaphysis, Abnorma... ORPHA:79328
Mucopolysaccharidosis, Type Ii
Severe short stature, Delayed eruption of teeth, Umbilical hernia, Abnormal heart valve morpholog... OMIM:309900
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Martsolf Syndrome 1
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... OMIM:212720
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Atransferrinemia
Congestive heart failure OMIM:209300
Poems Syndrome
Ascites, Metaphyseal sclerosis, Pleural effusion, Pulmonary arterial hypertension, Pericardial ef... ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Cerebral edema, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Thin upper lip vermilion, Short philtrum, Motor stereotypy, Lobulate... OMIM:613443
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Sandal gap, Umbilical hernia, Equinus calcaneus, Mitral valve ... ORPHA:536532
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Low posterior hairline, Large hands, Macro... ORPHA:528
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... ORPHA:99901
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri... OMIM:212065
Aymé-Gripp Syndrome
Postnatal growth retardation, Congenital diaphragmatic hernia, Radioulnar synostosis, Tapered fin... ORPHA:1272
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Increased adipose tissue around the neck, Atherosclerosis, ... ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Cerebral edema,... OMIM:620646
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrops f... OMIM:609015
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Overfriendliness, Thin upper lip vermilion, Medi... OMIM:174300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Frequent temper tantrums, Submucou... OMIM:619103
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Eq... ORPHA:746
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Low posterior hairline, Short neck, Atrial... OMIM:617303
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... OMIM:258860
Tetrasomy 5P
Congestive heart failure, Postnatal growth retardation, Overlapping toe, Clinodactyly of the 5th ... ORPHA:3309
Q Fever
Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric... ORPHA:781
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Portal hypertension, Joint swell... ORPHA:465508
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Congestive heart failure, Abnormal heart morphology, Lymphedema, Cerebral... ORPHA:137667
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Aggressive behavior, Glossoptosis, Cleft palate OMIM:618356
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... OMIM:615846
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Decreased muscle mass, Umbilical hernia, Elbow flexion contracture, Arterial r... ORPHA:1900
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Umbilical hernia, Elbow flexion contracture, ... OMIM:608328
Seckel Syndrome 10
Severe short stature, Ventricular hypertrophy, Congestive heart failure, Abdominal aortic aneurys... OMIM:617253
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Intrauterine growth retardation, Left ventricular hypertrophy, Congestive heart f... OMIM:619355
Fabry Disease
Mitral regurgitation, Arrhythmia, Achalasia, Lymphedema, Hypertrophic cardiomyopathy, Bundle bran... ORPHA:324
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San... ORPHA:261330
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, Intrauterine gr... OMIM:608779
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate ORPHA:2189
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia... ORPHA:453499
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent hand flapping, Submucous cleft hard palate, Thin upper lip... OMIM:619680
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Wide mouth, Protruding ton... ORPHA:411511
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Talipes equinovarus, Brady... OMIM:232500
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Coronary artery calcification, A... ORPHA:51608
Pallister-Hall-Like Syndrome
Median cleft upper lip, Death in infancy, Microglossia, Cleft palate OMIM:241800
Babesiosis
Clinodactyly of the 5th toe, Myocardial infarction, Congestive heart failure ORPHA:108
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Osteogenesis Imperfecta, Type Ii
Disproportionate short-limb short stature, Congestive heart failure, Tibial bowing, Nonimmune hyd... OMIM:166210
Schimke Immuno-Osseous Dysplasia
Atherosclerosis, Congestive heart failure, Intrauterine growth retardation, Transient ischemic at... ORPHA:1830
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Crimean-Congo Hemorrhagic Fever
Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemothorax, Hemoperitoneu... ORPHA:99827
Cree Impaired Intellectual Development Syndrome
Cleft soft palate OMIM:606851
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence OMIM:613604
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Lymphatic Malformation 5
Cleft palate OMIM:153200
Hennekam Syndrome
Chylothorax, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Lymphedema, A... ORPHA:2136
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... ORPHA:26791
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Constrictive pericar... ORPHA:67
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Myelopathy, Mitral regurgitation, Talipes equinovarus, Carpa... OMIM:252500
Trisomy 8Q
Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi... ORPHA:1752
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Congestive heart failure, Rhizomelic arm shortening, Tricuspid regurgi... ORPHA:508542
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Congestive heart failure, Intrauterine growth retardation, Polyhydramnios, Flexion co... OMIM:616271
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate ORPHA:2804
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Congestive heart failure, Abnormal heart valve morphology, Hypertroph... ORPHA:579
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Congestive heart failure, Edema, Umbilical hernia ORPHA:2505
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... ORPHA:565612
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Arthrogryposis, Distal, Type 3
Bifid uvula, High palate, Cleft palate, Submucous cleft hard palate OMIM:114300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Tricuspid regur... ORPHA:505248
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, Thin vermilion bor... OMIM:612938
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Congestive heart failure ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Pica, Cleft soft palate, Recurrent... OMIM:620450
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Micrognathia, Ventricula... ORPHA:261337
Werner Syndrome
Small hand, Skeletal muscle atrophy, Congestive heart failure, Atherosclerosis, Pulmonary artery ... ORPHA:902
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Anorexia, Hypogeusia, Hamartomatous polypo... ORPHA:2930
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atresia, Hypodontia, Hi... ORPHA:989
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Intrauterine growth retardation, Palpitations, Oligo... ORPHA:525731
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Long philtrum, Anteriorly placed anus, Intraut... OMIM:612863
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
Oligomeganephronia
Micrognathia, Secundum atrial septal defect, Branchial cyst ORPHA:2260
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:614153
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Attention deficit hyperactivity disorder, Tongue atrophy, Dysphagia ORPHA:276198
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... OMIM:608670
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate ORPHA:293725
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue, Tongue thrusting, Dysphagia ORPHA:98795
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Aortic valve stenosis, Delayed eruption of teeth, Retrognathia,... ORPHA:2780
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Generalized limb muscle atrophy, Hand muscle weakness, Shoulder ... ORPHA:98908
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate OMIM:615065
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... ORPHA:31824
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Cleft palate ORPHA:1790
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... ORPHA:2752
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Downturned corners of mouth, S... OMIM:619950
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment depression, Syncope, ... ORPHA:358
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Talipes equinov... OMIM:617403
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, A... ORPHA:457279
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... ORPHA:682
Diamond-Blackfan Anemia 1
Webbed neck, Absent thumb, Short thumb, Congestive heart failure, Intrauterine growth retardation... OMIM:105650
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f... OMIM:615895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly,... ORPHA:352665
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno... ORPHA:35687
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Ray... ORPHA:91139
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Holoprosencephaly
Spinal dysraphism, Hypoplasia of the zygomatic bone, Tetralogy of Fallot, Branchial anomaly, Abno... ORPHA:2162
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Submucous cleft hard palate ORPHA:178303
Dietary Iron Overload Disease
Abnormal heart morphology, Congestive heart failure ORPHA:139507
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Delayed puberty, Sup... ORPHA:91347
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Wide mouth, Protruding ton... ORPHA:98794
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Left ventricular ... ORPHA:308552
Bor Syndrome
Branchial cyst ORPHA:107
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis... ORPHA:1358
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Xerostomia, Congestive heart failure, Telangiectasia of the skin, Pulmonary ... ORPHA:220393
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Death in infancy, Microdontia, Ever... ORPHA:570
Stickler Syndrome, Type I
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence OMIM:108300
Chédiak-Higashi Syndrome
Pericardial effusion, Epistaxis, Pleural effusion, Edema ORPHA:167
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo... OMIM:618874
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation of the ventricular cav... ORPHA:90349
Orofaciodigital Syndrome Ii
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ... OMIM:252100
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Narrow mouth, Submucous clef... ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, S... OMIM:617660
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Tetralogy of Fallot, Open mouth, Su... OMIM:192430
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Congestive heart failure, Femor... OMIM:616482
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Aortic root aneurysm, Aortic dissection, Pulmonary... ORPHA:558
Leigh Syndrome
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine grow... ORPHA:506
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Postnatal g... ORPHA:90348
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate ORPHA:1307
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Anorexia ORPHA:90045
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Attention deficit hyperactivity disorder, Tracheoesophageal fistula,... OMIM:619227
Kawasaki Disease
Vasculitis, Edema, Double outlet right ventricle with subpulmonary ventricular septal defect with... ORPHA:2331
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Incontinentia Pigmenti
Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Umbil... ORPHA:464
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, High palate, Cleft palate ORPHA:168572
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Myhre Syndrome
Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of the maxilla, Unilateral cle... ORPHA:2588
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Aggressive behavior, Everted lower ... OMIM:610253
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Right ventricular dilatation OMIM:619705