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

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 ORPHA:154

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency OMIM:617732
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency ORPHA:99772
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Sprengel Deformity
Cleft palate ORPHA:3181
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Lambert Syndrome
Branchial anomaly, Malar flattening, Ventricular septal defect ORPHA:1296
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Drooling, High, narrow palate ORPHA:209908
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Parc Syndrome
Cleft palate OMIM:600331
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Intrauterine growth retardation, Arrhythmia, Congestive heart failure OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Right bundle bran... OMIM:115197
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Endocardial Fibroelastosis
Sandal gap, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Cantu Syndrome
Congenital hypertrophy of left ventricle, Short neck, Coxa valga, Patent ductus arteriosus, Broad... OMIM:239850
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failu... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Dysphagia, Cleft palate OMIM:201550
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Growth delay, Pul... ORPHA:2414
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibular condyle ap... OMIM:614669
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Heart murmur, Ve... ORPHA:3400
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Ventricular hypertrophy, Bradycardia, ... OMIM:619048
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Endocardial fibroelastosis, Congestive hea... OMIM:302060
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atria... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive heart failure OMIM:616045
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Hartnup Disorder
Glossitis OMIM:234500
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cleft lip, Pursed lips, Thin vermilion border, Cleft palate OMIM:619110
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Celiac disease, ... ORPHA:576283
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency OMIM:608363
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Intrauterine growth retardation, Arrhyt... ORPHA:1194
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion... OMIM:612292
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wid... OMIM:618779
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Short phalanx of finger, Small hand, Broad finger, Pericardial effusion OMIM:614684
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Ascites, Bacterial endocarditis, Pedal edema, Heart mur... ORPHA:615
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Congestive heart failure, Hydrops feta... OMIM:253250
Maternal Uniparental Disomy Of Chromosome X
Flexion contracture, Short neck, Congestive heart failure, Rocker bottom foot, Predominantly lowe... ORPHA:261519
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Polyhydramnios, Congestive heart failure OMIM:616794
Classic Multiminicore Myopathy
Limited neck flexion, Congenital muscular dystrophy, Right ventricular hypertrophy, Muscle fiber ... ORPHA:324604
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Submucous cleft hard palate, Hypodontia, Glossoptosis, High, narrow palate ORPHA:3201
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Congenital Disorder Of Glycosylation, Type Il
Short neck, Ascites, Edema, Pericardial effusion, Abnormal cardiac septum morphology OMIM:608776
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Intrauterine growth retardation, Congestive heart failure, Sudden cardiac... OMIM:610198
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Cleft palate, High, narrow palate OMIM:604841
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Cardiac Diverticulum
Pulmonary artery hypoplasia, Diastasis recti, Tricuspid atresia, Premature ventricular contractio... ORPHA:1686
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Systolic heart murmur, Congestive heart... ORPHA:439
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Atrial fibrillation, Left atrial enlargement, Congestive heart failure OMIM:617047
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Micrognathia, Pulmonic stenosis, Hypoplasia of the... ORPHA:1131
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Congestive heart failure, Hydrops fetalis, Ascites, Cardiomegaly OMIM:269920
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Desminopathy
Concentric hypertrophic cardiomyopathy, Congestive heart failure, Sudden cardiac death, Atriovent... ORPHA:98909
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Short stature, Ventricular septal... ORPHA:49827
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:602390
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Thin upper lip vermilion, Cleft soft palate, Dental crowding, Abnormality of the d... OMIM:616331
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... OMIM:617412
Alkuraya-Kucinskas Syndrome
Webbed neck, Clinodactyly, Cystic hygroma, Cutaneous syndactyly, Overlapping fingers, Adducted th... OMIM:617822
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Ge... OMIM:616866
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure OMIM:606703
Pai Syndrome
Abnormal oral frenulum morphology, Bifid uvula, Cleft palate, Median cleft lip ORPHA:1993
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Zimmermann-Laband Syndrome 3
High palate, Bifid uvula, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Non-midline cleft lip ORPHA:1484
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Congestive heart ... OMIM:615703
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure ORPHA:324588
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Short neck, Intrauterine growth retardation, Abnormal heart valve morphol... OMIM:230500
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Dental crowding, Anterior open-bite malocclusion, Glossoptosi... OMIM:602483
Plummer-Vinson Syndrome
Narrow mouth, Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Glos... ORPHA:54028
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy ORPHA:91130
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Pleural effusion, Polyhydramnios, Cardiomyopathy, Feta... ORPHA:292
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... OMIM:314400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Branchial cyst, Branchial fistula OMIM:609166
Temple Syndrome
Short philtrum, High palate, Bifid uvula, Cleft palate OMIM:616222
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Lipoid Proteinosis
Tongue nodules, High palate, Abnormal oral mucosa morphology, Thick lower lip vermilion, Abnormal... ORPHA:530
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... ORPHA:199241
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Short palm, Atrial septal defect, Mild postnatal growth retardation, P... OMIM:235510
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Cleft palate OMIM:603543
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios ORPHA:163596
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Abnormal aortic valve cusp morphology, Patent ductus ar... ORPHA:99094
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Patent ductus arteriosus, Atrial septal defect... OMIM:612561
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Hypertrophi... OMIM:212140
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Aicardi-Goutieres Syndrome 9
Portal hypertension, Intrauterine growth retardation, Ascites, Lower limb hypertonia, Edema, Hype... OMIM:619487
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Short f... OMIM:266500
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Thin vermilion border, Cleft palate OMIM:608572
American Trypanosomiasis
Achalasia, Arrhythmia, Congestive heart failure, Myocarditis, Periorbital edema, Cardiomyopathy, ... ORPHA:3386
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Abnormal atrioventricular valve physiology, Elevated jugu... ORPHA:1329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericardial effusion, Pericarditis ORPHA:231111
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
8Q24.3 Microdeletion Syndrome
Branchial cyst, Long philtrum, Cleft maxillary alveolus, Mesiodens, Smooth philtrum, Dysphagia, T... ORPHA:508488
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Accelerated atheroscle... OMIM:264800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Pleural effusion, Cardiomyopathy, Ascites, ... OMIM:235200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Microdontia, Widely spaced teeth, Macroglossia... OMIM:266920
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Generalized amyotrophy, Increased variability in muscle fiber diameter,... ORPHA:52430
Sandhoff Disease
Congestive heart failure ORPHA:796
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Cleft palate, Median cleft lip OMIM:241800
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Microglossia, Dental crowding, Glossoptosis, Mand... ORPHA:137888
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Congestive heart failure, Atrial septal defect, Polyhydramnios, Decreased muscl... ORPHA:500533
Schilbach-Rott Syndrome
Narrow mouth, Bifid uvula, Submucous cleft hard palate OMIM:164220
Temple Syndrome
Polyphagia, Bifid uvula ORPHA:254516
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Flexion contracture, Portal hypertension, Skeletal muscle atrophy, Conges... ORPHA:367
Fabry Disease
Arrhythmia, Congestive heart failure, Delayed puberty, Myocardial infarction, Transient ischemic ... OMIM:301500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Cednik Syndrome
Short stature, Congestive heart failure ORPHA:66631
Gaucher Disease Type 1
Abnormal myocardium morphology, Growth delay, Pulmonary arterial hypertension, Pedal edema, Ascit... ORPHA:77259
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary insufficienc... ORPHA:2326
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Atrial flutter, Abnormal atrioventricular valve morphology, Congestive... ORPHA:324410
Aarskog-Scott Syndrome
Short neck, Delayed eruption of teeth, Finger syndactyly, Short palm, Congestive heart failure, C... ORPHA:915
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Myocardial infarction, Short stature, Hypertension, Arterial stenosis, ... OMIM:208000
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Gingival cleft, Cleft palate ORPHA:2189
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Absence of the pulmonary valve, Short neck, Patent ductus arteriosus, Congestive ... OMIM:601808
Buratti-Harel Syndrome
Submucous cleft hard palate, High palate, Bifid uvula, Velopharyngeal insufficiency OMIM:619314
Wild Type Abeta2M Amyloidosis
Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Ab... ORPHA:85446
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Microglossia OMIM:612776
Gm1 Gangliosidosis
Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Macroglossia, Abnormal heart... ORPHA:354
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size,... ORPHA:2348
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Dilatation ... ORPHA:1054
Acute Interstitial Pneumonia
Pleural effusion, Hypertension, Peripheral edema, Pericardial effusion ORPHA:79126
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Epistaxis, Pleural effusion, Abnormality of the neck, Abnormality of ... ORPHA:464329
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Radial deviation of finger, Hypertension, Ventricul... OMIM:139210
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Microglossia, Whistling appearance OMIM:277720
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Raynaud phenomenon, Edema, Pericardial effusion ORPHA:93552
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size,... ORPHA:79083
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia OMIM:227270
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Primary Lipodystrophy
Congestive heart failure, Type IV atherosclerotic lesion, Myopathy, Cardiomyopathy, Skeletal musc... ORPHA:90970
Poems Syndrome
Metaphyseal sclerosis, Pleural effusion, Pulmonary arterial hypertension, Ascites, Clubbing of fi... ORPHA:2905
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:250999
Alg9-Cdg
Right ventricular dilatation, Short neck, Atrial septal defect, Rhizomelia, Hydrops fetalis, Tric... ORPHA:79328
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Pyloric stenosis, Cleft palate ORPHA:96184
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Bilateral cleft lip, Deep philtrum, Tented upper lip vermilion, Smoo... OMIM:618622
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Arthrogryposis, Distal, Type 3
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate OMIM:114300
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Temporomandibular joint ankylosis, Intrauterine growth retardation, High, narrow pal... ORPHA:2872
Atransferrinemia
Congestive heart failure OMIM:209300
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
W Syndrome
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Macroglossia, Skeletal muscle hypertrophy,... ORPHA:528
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cerebral edema, Congestive heart failure OMIM:611126
Orofaciodigital Syndrome V
High palate, Bifid uvula, Lobulated tongue, Hypodontia, Aganglionic megacolon, Hamartoma of tongu... OMIM:174300
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Congestive heart failure, Severe postnatal growth retardat... OMIM:252500
Mucopolysaccharidosis, Type Ii
Flexion contracture, Short neck, Delayed eruption of teeth, Abnormal heart valve morphology, Cong... OMIM:309900
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Webbed neck, Hammertoe, Aortic root aneurysm, Equinus calcaneus, Sandal gap, ... ORPHA:536532
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt,... ORPHA:1600
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Growth delay, M... ORPHA:77261
Martsolf Syndrome 1
Cardiac arrest, Short palm, Congestive heart failure, Short metacarpal, Broad fingertip, Short ph... OMIM:212720
Primary Intestinal Lymphangiectasia
Pleural effusion, Growth delay, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Tooth malposition ORPHA:1387
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Coxa valga, Cardiac arrest, Aortic root a... ORPHA:3342
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Cleft palate, Submucous cleft hard palate OMIM:108300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Proximal upper limb muscle hypertrophy, Congestive heart failure, Muscle hypertrophy of the lower... ORPHA:280365
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Hamartoma of tongue, Clef... OMIM:258860
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Cleft upper lip, Cleft palate OMIM:277170
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Congenital Disorder Of Glycosylation, Type Iie
Short neck, Intrauterine growth retardation, Skeletal muscle atrophy, Congestive heart failure, O... OMIM:608779
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Abno... ORPHA:465508
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical tooth, Hypodont... OMIM:129400
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Lymphatic Malformation 5
Cleft palate OMIM:153200
Aymé-Gripp Syndrome
Patent ductus arteriosus, Rocker bottom foot, Clinodactyly of the 5th finger, Tapered finger, Con... ORPHA:1272
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Flexion contracture, Short neck, Patent ductus arteriosus, Congestive heart failure, At... OMIM:617303
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Macroglossia, A... ORPHA:3473
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Cerebral edema, Congestive heart failure, Cerebellar hemorrhage, Hypertro... ORPHA:99901
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Bifid uvula, Cleft palate, Macroglossia OMIM:612938
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Flexion contracture, Pericardial effusion OMIM:212065
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Hydrops fetalis, My... OMIM:609015
Pallister W Syndrome
Submucous cleft hard palate, Agenesis of central incisor, Broad uvula, Agenesis of maxillary cent... OMIM:311450
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Orofaciodigital Syndrome Type 3
Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular dentition, Abnormality of the denti... ORPHA:2752
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Death in infancy, Cleft palate ORPHA:1790
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Q Fever
Abnormal heart valve morphology, Abnormal left ventricular function, Myocarditis, Pleural effusio... ORPHA:781
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Mandibulofacial Dysostosis With Alopecia
Everted lower lip vermilion, Delayed eruption of primary teeth, Dental crowding, Glossoptosis, Cl... OMIM:616367
8Q22.1 Microdeletion Syndrome
Submucous cleft hard palate, Abnormality of the dentition, Long philtrum ORPHA:178303
Weill-Marchesani Syndrome 2
Brachydactyly, Mitral regurgitation, Patent ductus arteriosus, Congestive heart failure, Short me... OMIM:608328
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Atrial fibrillation, Vasculitis, Cardiomyopath... OMIM:115250
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Capillary Malformation-Arteriovenous Malformation
Chylothorax, High-output congestive heart failure, Congestive heart failure, Nonimmune hydrops fe... ORPHA:137667
Tetrasomy 5P
Short neck, Congestive heart failure, Clinodactyly of the 5th finger, Short hallux, Pulmonary art... ORPHA:3309
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Myocardial infarction, Growth delay, Angina pectoris, Premature coronar... OMIM:176670
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard pa... OMIM:619103
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, Congestive heart failure, Decreased muscle mass,... ORPHA:1900
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Congestive heart ... ORPHA:183
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Dental malocclusion OMIM:612350
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Left ventricular hypertrophy, Intrauterine growth retardation, Congestive heart f... OMIM:619355
Fabry Disease
Bundle branch block, Abnormal aortic valve morphology, Telangiectasia of the skin, Hypertension, ... ORPHA:324
Trisomy 8Q
High palate, Non-midline cleft lip, Everted lower lip vermilion, Oral cleft, Abnormal oral frenul... ORPHA:1752
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, High, narrow palate, Submucous cleft hard palate, Smooth philtrum, Th... OMIM:612863
Branchiogenic Deafness Syndrome
Branchial cyst, Short stature, Branchial fistula ORPHA:50815
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Pericardial effusion, Pul... ORPHA:73224
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral regurgitation, Aortic root aneurysm, Congestive heart failure, Coronary artery atheroscler... ORPHA:363618
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Tibial bowing, Nonimmune hydrops fetalis, Limb... OMIM:166210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Pleural eff... ORPHA:67
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue ORPHA:2001
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft p... ORPHA:2780
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Ascites, Ventricular hypertrophy... ORPHA:51608
Babesiosis
Myocardial infarction, Clinodactyly of the 5th toe, Congestive heart failure ORPHA:108
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy OMIM:601110
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Microglossia, Glossoptosis, Dysphagia, Cleft palate OMIM:254940
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula ORPHA:169186
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Coxa valga, Short palm, Atrial septal defect, Sandal ga... ORPHA:261330
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Short neck, Intrauterine growth retardation, Congestive heart fai... ORPHA:1830
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Intestinal malrotation, Abnormal oral frenulum morphology, Deep philt... ORPHA:404440
Marbach-Schaaf Neurodevelopmental Syndrome
Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth OMIM:619680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Ventricul... ORPHA:453499
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Abnormal heart mor... ORPHA:26791
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Cleft palate, Submucous cleft hard palate ORPHA:3426
Seckel Syndrome 10
Abdominal aortic aneurysm, Congestive heart failure, Severe short stature, Hypertension, Ventricu... OMIM:617253
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Umbilical hernia, Edema, Congestive heart failure ORPHA:2505
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Dental crowdin... OMIM:300990
Friedreich Ataxia
Abnormal echocardiogram, Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension, Pleural effusion, Pericardial effusion OMIM:108050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Brachydactyly, Delayed eruption of teeth, Congestive heart failure, Short metacarpal, Rhizomelic ... ORPHA:508542
Emanuel Syndrome
High palate, Ectopic anus, Bifid uvula, Submucous cleft lip, Long philtrum, Delayed eruption of t... ORPHA:96170
Moebius Syndrome
High palate, Bifid uvula, Dysphagia, Abnormality of the dentition OMIM:157900
Catel-Manzke Syndrome
Glossoptosis, High palate, Cleft upper lip, Cleft palate OMIM:616145
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, T... ORPHA:2250
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Short neck, Patent foramen ovale, Patent ductus arteriosus, Atrial septal de... ORPHA:505248
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Congestive heart failure, Myocardial infarction, Acral ulceration, A... ORPHA:91139
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Arrhythmia, Abnormality of the shoulder girdle muscu... ORPHA:565612
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Hennekam Syndrome
Chylothorax, Finger syndactyly, Delayed eruption of teeth, Hydrops fetalis, Mild postnatal growth... ORPHA:2136
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Abnormal heart valve morphology, Congestive heart failure, Hypertroph... ORPHA:579
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Short stature, Atherosclerosis, Hypertension OMIM:203800
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Short philtrum, Bifid uvula, Long philtrum, Drooling, Thin upper lip vermilion, Downturned corner... OMIM:619121
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Congestive heart failure ORPHA:3077
Limb-Mammary Syndrome
Submucous cleft soft palate, Bifid uvula, Hypodontia, Cleft lip, Cleft palate, Cleft hard palate ORPHA:69085
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure, Limb muscle weakness OMIM:619259
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Narrow mouth, Hypodontia, Anal atresia, Jejunal at... ORPHA:989
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Rhizomelia, Severe short stature, Pulmonary arterial hypertension, Disp... OMIM:616482
Pediatric-Onset Graves Disease
Sinus tachycardia, Intrauterine growth retardation, Congestive heart failure, Atrial fibrillation... ORPHA:525731
Angelman Syndrome Due To A Point Mutation
Drooling, Widely spaced teeth, Dysphagia, Protruding tongue, Abnormal eating behavior, Wide mouth ORPHA:411511
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonic stenosis,... ORPHA:70474
Meckel Syndrome 12
Bifid uvula OMIM:616258
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch ... OMIM:617403
Megalocornea-Mental Retardation Syndrome
High palate, Dysphagia, Bifid uvula, Long philtrum OMIM:249310
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Webbed neck, Patent ductus arteriosus, Tapered finger, Tricuspid valve prolapse, ... ORPHA:261337
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Cleft palate OMIM:617660
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Micrognathia ORPHA:2260
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Thick lower lip vermilion, Anterior open-bite malocclus... OMIM:123450
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Diamond-Blackfan Anemia 1
Absent thumb, Webbed neck, Short neck, Intrauterine growth retardation, Congestive heart failure,... OMIM:105650
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia OMIM:619227
Geleophysic Dysplasia 1
Coxa valga, Camptodactyly of finger, Irregular capital femoral epiphysis, Short palm, Congestive ... OMIM:231050
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Bifid uvula, Intestinal malrotation, Microdontia, Increased overbite... OMIM:113650
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Long philtrum, Glossoptosis... ORPHA:1358
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Long philtrum, Thick vermilion border OMIM:613805
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Hypotension, Myocarditis, D... ORPHA:31824
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Agnathia-Otocephaly Complex
Narrow mouth, Microglossia, Cleft palate, Aglossia OMIM:202650
Melkersson-Rosenthal Syndrome
Cheilitis, Furrowed tongue, Macroglossia ORPHA:2483
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Microglossia, Cleft palate ORPHA:1307
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Open mouth, Everted lower lip vermilion, Microdont... ORPHA:570
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Impaired mastication, Submucous cleft hard palate, Pyloric stenosis, ... ORPHA:457279
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Agenesis of central incis... OMIM:252100
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Growth delay, Myopathy, Cardiomyopathy, Left ve... OMIM:242840
Holoprosencephaly 3
Solitary median maxillary central incisor, Bifid uvula, Cleft palate, Cleft lip OMIM:142945
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Cleft soft palate, Long philtrum ORPHA:2756
Robin Sequence With Cleft Mandible And Limb Anomalies
Pierre-Robin sequence, Narrow mouth, High palate, Bifid uvula, Agenesis of mandibular central inc... OMIM:268305
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Smooth philtrum ORPHA:293725
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Vasculitis, Pericarditis, Epis... ORPHA:727
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Rhabdomyolysis, ST segment depr... ORPHA:358
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Patent ductus arteriosus, Atrial septal def... OMIM:300967
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Widely spaced teeth, Dysphagia, Wide mouth ORPHA:98795
Myhre Syndrome
Narrow mouth, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Gingival cleft, Thi... ORPHA:2588
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations, Delaye... ORPHA:91347
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular... ORPHA:352665
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Thin vermilion border OMIM:241410
Hyperkalemic Periodic Paralysis
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Myopathy, Ske... ORPHA:682
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Dens in dente, Macrodontia OMIM:263540
Hypoglossia-Hypodactylia
Narrow mouth, Microglossia, Aglossia OMIM:103300
Seckel Syndrome 2
Microglossia, Microdontia OMIM:606744
Holoprosencephaly
Brachydactyly, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Short neck, Hand polydac... ORPHA:2162
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Erdheim-Chester Disease
Abnormal pericardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Pleu... ORPHA:35687
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Cle... OMIM:192430
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Chédiak-Higashi Syndrome
Epistaxis, Edema, Pleural effusion, Pericardial effusion ORPHA:167
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Congestive heart failure, Dilatation of the ventricular cavity, ... ORPHA:90349
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Congestive heart failure, Hand muscle weakness, Generalized limb muscl... ORPHA:98908
Angioosteohypertrophic Syndrome
Finger syndactyly, Hand oligodactyly, Gastrointestinal hemorrhage, Congestive heart failure, Pulm... ORPHA:2346
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Hereditary Angioedema Type 1
Abnormality of salivation, Abnormal soft palate morphology, Intestinal edema, Abnormal uvula morp... ORPHA:100050
African Iron Overload
Abnormal heart morphology, Congestive heart failure ORPHA:139507
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the mouth, Abnormality of the philtrum, Abnormal... ORPHA:2759
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Autosomal Dominant Cutis Laxa