Gene Summary

Name:
short stature homeobox 2
Synonyms:
6330543G17Rik,  Prx3,  Og12x

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.

Phenotype System Allele Zyg Sex Life Stage P Value
prenatal lethality prior to heart atrial septation Shox2em1(IMPC)Bay HOM   E15.5 0.00
preweaning lethality, complete penetrance Shox2em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right fundus

13 Images

Eye Morphology

VIP of right eye

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Shox2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Shox2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Syngnathia
Cleft palate OMIM:119550
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Pierre Robin Syndrome
Cor pulmonale, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Nathalie Syndrome
Arrhythmia ORPHA:2663
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
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
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate OMIM:236110
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... OMIM:616898
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate, Drooling ORPHA:209908
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip OMIM:174300
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Atrial septal defect, Submucous cleft hard palate, Pulmonic stenosis OMIM:619239
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mouth OMIM:619110
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Adducted Thumbs Syndrome
Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate OMIM:201550
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Bifid uvula ORPHA:506353
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula ORPHA:2736
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Coffin-Siris Syndrome 11
High palate, Wide mouth, Cleft soft palate, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Satb2-Associated Syndrome Due To A Pathogenic Variant
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Drooling, Bifid uvula,... ORPHA:576283
Diamond-Blackfan Anemia 6
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Cleft upper lip, Ventricular hype... OMIM:612561
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... OMIM:604169
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Non-midline cleft lip, Hypoplastic left heart ORPHA:2476
Dystonia 23
Arrhythmia OMIM:614860
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, ... OMIM:608572
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Bifid uvula, Pierre-Robin sequence OMIM:604841
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Illum Syndrome
Bradycardia OMIM:208155
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Thin upper lip vermilion,... OMIM:616331
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Mitral valve prolapse, Oligodontia, Long philtrum, Soli... ORPHA:2712
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... OMIM:617412
Variegate Porphyria
Tachycardia OMIM:176200
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula OMIM:618658
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Cardiomyopathy, Absent atrioventricular node OMIM:234700
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Double outlet right ventricle, Intes... ORPHA:3426
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Temple Syndrome
High palate, Cleft palate, Bifid uvula, Short philtrum OMIM:616222
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect OMIM:614526
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Submucous cleft hard palate, Glossoptosis ORPHA:3201
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Cleft palate, Bifid uvula, Dysplastic pulmonary valve OMIM:300958
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Atrial septal defect, Submucous cleft har... OMIM:619314
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, High palate, Smooth philtrum, Dysplastic tricuspid valve, Right ventricular ... OMIM:612863
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hypertension, Tricusp... ORPHA:422
Pai Syndrome
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology ORPHA:1993
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... OMIM:540000
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Arrhythmia, Sudden cardiac death OMIM:181350
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Cardiocranial Syndrome, Pfeiffer Type
Abnormal heart morphology, High, narrow palate, Bifid uvula, Broad philtrum ORPHA:2872
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Birk-Barel Syndrome
High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate OMIM:612292
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Wide mouth, Microdontia, Macroglossia, Accessory oral frenulum,... OMIM:266920
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Bifid uvula OMIM:603543
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Cleft palate, Mitral stenosis, Bifid uvula, Atrial septal defect, Hypoplastic left heart, Aortic ... OMIM:617660
Stickler Syndrome, Type I
Cleft palate, Mitral valve prolapse, Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate OMIM:108300
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Hydrolethalus
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate ORPHA:2189
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Autosomal Recessive Centronuclear Myopathy
High palate, Bifid uvula, Left ventricular hypertrophy, Abnormal heart valve morphology, Narrow m... ORPHA:169186
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Submucous cleft hard palate OMIM:164220
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... OMIM:614701
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Ventricular septal defect, Wide mouth, Unilateral cleft lip, Unilatera... OMIM:619103
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, High palate, Long philtrum, I... ORPHA:457279
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Smooth philtrum, Cleft palate, Long philtrum, Abnormal heart morpholog... ORPHA:404440
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia OMIM:613327
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue OMIM:258850
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Bifid uvula, Narrow mouth ORPHA:96184
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Macroglossia, Bifid uvula, ... OMIM:612938
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:114300
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Hypodontia, Cleft palate, Ventricular septal defect, Abnormal dental enamel ... ORPHA:1071
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Bifid uvula, Delayed eruption of teeth, Aortic valve stenosis,... ORPHA:2780
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
Rapp-Hodgkin Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Bifid uvula... OMIM:129400
W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate ORPHA:2804
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Auriculocondylar Syndrome
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... ORPHA:137888
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Short philtrum, Thin vermilion border, Bifid uvula, Deep philtrum, Tented upper ... OMIM:618622
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Submucous cleft hard palate, Bifid uvula, Delayed eruption of teeth, Narrow mouth, Thin upper lip... OMIM:300990
Zimmermann-Laband Syndrome
Hypodontia, High palate, Cleft palate, Wide mouth, Macroglossia, Supernumerary tooth, Bifid uvula... ORPHA:3473
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:302060
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cleft palate, Duodenal atresia, Submucous cleft hard palate, Double ou... OMIM:301043
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Dental malocclusion OMIM:612350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Abnormal left ventricular function, Arrhythmia OMIM:618098
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Acquired Methemoglobinemia
Palpitations, Syncope, Arrhythmia, Tachycardia ORPHA:464453
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Ha... ORPHA:2751
Emanuel Syndrome
Ventricular septal defect, High palate, Cleft palate, Ectopic anus, Truncus arteriosus, Long phil... ORPHA:96170
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Short philtrum, Long philtrum, Drooling, Bifid uvula, Downturned cor... OMIM:619121
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... ORPHA:99104
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Pallister W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Submucous cleft hard palate, Long philtrum ORPHA:178303
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Temple Syndrome
Bifid uvula ORPHA:254516
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Bifid uvula OMIM:601110
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... ORPHA:1880
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Gingival cleft, Thin vermilion border, Bifid uvula, Unilat... ORPHA:2588
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Esophageal atresia, Tracheoesophageal fistula, Muscular ventricular septal defe... OMIM:619227
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Velocardiofacial Syndrome
Ventricular septal defect, Cleft palate, Pierre-Robin sequence, Velopharyngeal insufficiency, Tet... OMIM:192430
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis ORPHA:228410
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hypomandibular Faciocranial Dysostosis
Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid uvula, Atrial septal defect, Narrow mouth ORPHA:1790
Encephalitis Lethargica
Bradycardia ORPHA:83600
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia OMIM:613426
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Bifid uvula, Cleft lip, Submucous cleft soft palate, Cleft hard palate ORPHA:69085
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Loeys-Dietz Syndrome 5
Ventricular septal defect, Smooth philtrum, High palate, Cleft palate, Cleft soft palate, Bifid u... OMIM:615582
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Smooth philtrum, Cleft palate, Pierre-Robin sequence, Oligodontia, Lon... OMIM:608670
Isolated Cleft Lip
Hypodontia, Supernumerary maxillary incisor, Situs inversus totalis, Velopharyngeal insufficiency... ORPHA:199302
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Chromosome 18Q Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, U-Shaped upper lip vermilion, Dysplastic... OMIM:601808
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia ORPHA:99745
Cri-Du-Chat Syndrome
Thick lower lip vermilion, High palate, Short philtrum, Bifid uvula, Downturned corners of mouth,... OMIM:123450
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... ORPHA:99827
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Cleft palate, Microdontia, Branchial fistula, Bifid uvula, Intestina... OMIM:113650
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Loeys-Dietz Syndrome 4
High, narrow palate, Bicuspid aortic valve, High palate, Mitral valve prolapse, Bifid uvula, Eosi... OMIM:614816
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Arrhythmia OMIM:300257
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... ORPHA:2250
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Palpitations ORPHA:91355
Desmosterolosis
Cleft palate, Bifid uvula, Intestinal malrotation, Narrow mouth, Anomalous pulmonary venous retur... ORPHA:35107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, High palate, Cleft palate, Oligodontia, Macrogl... ORPHA:453499
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Bifid uvula, Lobulated tongue, Abnormality of the denti... ORPHA:2752
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Abnormal atrioventricular cond... ORPHA:732
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Walker-Warburg Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, High palate, Open bite, Deep philtrum, Pulmonic stenosis, Atrial sep... OMIM:115150
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Atrial septal defect, Bifid uvula, Pulmonary valve atresia OMIM:301030
Holoprosencephaly 2
Median cleft lip and palate, Solitary median maxillary central incisor, Single ventricle, Bifid u... OMIM:157170
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Moebius Syndrome
Abnormality of the dentition, High palate, Bifid uvula OMIM:157900
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Aplasia of the epiglottis, Cleft l... OMIM:268305
Treacher Collins Syndrome 1
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Abnormal heart mo... OMIM:154500
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Cerebrocostomandibular Syndrome
Ventricular septal defect, High palate, Long philtrum, Cleft soft palate, Glossoptosis, Abnormali... OMIM:117650
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Dk1-Cdg
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:91131
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation OMIM:261990
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Neu-Laxova Syndrome
Cleft palate, Abnormality of the philtrum, Bifid uvula, Abnormality of the mouth, Everted lower l... ORPHA:2671
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Marden-Walker Syndrome
Pyloric stenosis, Dextrocardia, Ventricular septal defect, Cleft palate, Situs inversus totalis, ... ORPHA:2461
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Bifid uvula, Long philtrum OMIM:241410
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, High palate, Bifid uvula OMIM:300472
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Hypodontia, Dens in dente, Bifid uvula, Enamel hypoplasia, Macrodontia OMIM:263540
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Widely spaced teeth, High, narrow palate, Ventricular septal defect, Left ventricular noncompacti... OMIM:300967
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia OMIM:249270
Orofaciodigital Syndrome Type 4
High, narrow palate, Perineal fistula, Cleft palate, Short philtrum, Rectovaginal fistula, Median... ORPHA:2753
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Bifid uvula, Glossoptosis ORPHA:1427
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Smooth philtrum, Short philtrum ORPHA:293725
Apert Syndrome
Pyloric stenosis, Ventricular septal defect, Cleft palate, Ectopic anus, Esophageal atresia, Dela... OMIM:101200
Holoprosencephaly 3
Cleft lip, Solitary median maxillary central incisor, Cleft palate, Bifid uvula OMIM:142945
Branchioskeletogenital Syndrome
Carious teeth, Premature loss of teeth, Short philtrum, Thin vermilion border, Bifid uvula, Abnor... ORPHA:1299
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:1194
Meckel Syndrome 12
Bifid uvula OMIM:616258
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Cleft palate, Long philtrum, Bifid uvula, Anal atresia, Atrial septal defect, Ab... OMIM:300968
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Cleft palate, Pierre-Robin sequence, Cardiomeg... OMIM:614921
Steinfeld Syndrome
Abnormal heart morphology, Bifid uvula, Median cleft lip and palate OMIM:184705
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Long philtrum OMIM:249310
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Bifid uvula, Pulmonic stenosis, Enamel hypoplasia, Abnormality of the dentition, Secu... OMIM:615802
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:235200
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, High palate, Long philtrum, Pulmonic stenosis, Atrial septal defect,... ORPHA:1340
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... ORPHA:99826
Familial Isolated Hypoparathyroidism
Arrhythmia ORPHA:2238
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Ventricular septal defect, High palate, Cleft palate, Pierre-Robin seq... OMIM:300373
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Down... ORPHA:247262
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bicuspid aortic valve, Cleft palate, Ventricular septal defect, Open bite, E... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bicuspid aortic valve, Cleft palate, Ventricular septal defect, Open bite, E... ORPHA:352665
Native American Myopathy
High palate, Cleft palate, Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate ORPHA:168572
Opitz Gbbb Syndrome, Type Ii
Ventricular septal defect, Cleft palate, High palate, Smooth philtrum, Short lingual frenulum, Cl... OMIM:145410
Dubowitz Syndrome
Carious teeth, High palate, Velopharyngeal insufficiency, Delayed eruption of teeth, Submucous cl... OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thick lower lip vermilion, High, narrow palate, Smooth philtrum, Cleft palate, Short philtrum, Bi... OMIM:309583
Yellow Fever
Shock, Reduced ejection fraction, Bradycardia, Hematemesis, Supraventricular arrhythmia, Internal... ORPHA:99829
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Microphthalmia, Syndromic 2
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Oligodontia, Long philtrum, Submu... OMIM:300166
Tolchin-Le Caignec Syndrome
Cardiac rhabdomyoma, High palate, Narrow mouth, Submucous cleft hard palate OMIM:618971
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Desbuquois Dysplasia 2
Hypodontia, Cleft palate, Long philtrum, Bifid uvula, Dental crowding OMIM:615777
Prader-Willi Syndrome Due To Translocation
Carious teeth, High palate, Cleft palate, Wide mouth, Triangular-shaped open mouth, Microdontia o... ORPHA:177907
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... ORPHA:437572
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypodontia, Bifid uvula, Selective tooth agenesis, Dental malocclusion, Fragile teeth ORPHA:2959
Chromosome 2Q37 Deletion Syndrome
Arrhythmia OMIM:600430
Zttk Syndrome
Ventricular septal defect, High palate, Short philtrum, Thin vermilion border, Bifid uvula, Downt... OMIM:617140
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Bicuspid aortic valve, High palate, Cleft palate, Pierre-Robin sequence, Short ... OMIM:617137
Apert Syndrome
Cleft palate, Ectopic anus, Esophageal atresia, Delayed eruption of teeth, Bifid uvula, Narrow pa... ORPHA:87
Fabry Disease
Hypertension, Myocardial infarction, Transient ischemic attack, Congestive heart failure, Arrhyth... OMIM:301500
Systemic Capillary Leak Syndrome
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:188
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Spondyloepiphyseal Dysplasia Congenita
Bifid uvula, Cleft palate, Pierre-Robin sequence OMIM:183900
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Leber Optic Atrophy
Arrhythmia OMIM:535000
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Bifid uvula, Delayed eru... OMIM:607812
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Neoplasm of the tongue, Ventricular septal defect, Atrioventricular canal defect, Bifid uvula, At... ORPHA:3047
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Widely spaced teeth, Ventricular septal defect, High palate, Smooth philtrum, Long philtrum, Bifi... OMIM:617506
Ear-Patella-Short Stature Syndrome
High, narrow palate, Cleft palate, Bifid uvula, Narrow mouth, Thick vermilion border, Submucous c... ORPHA:2554
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Submucous cleft hard palate OMIM:618891
Elsahy-Waters Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Bifid uvula, Delayed eruption of teeth, Mu... OMIM:211380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Dubowitz Syndrome
High palate, Rectal prolapse, Wide mouth, Malabsorption, Delayed eruption of teeth, Abnormality o... ORPHA:235
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Cleft palate, Wide mouth, Abnormal dental enamel morphology, Bifid uvula, Th... ORPHA:2658
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Rheumatic Fever
Myocarditis, Epistaxis, Pericarditis, Arrhythmia ORPHA:3099
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Abnormality of salivation, Abnormal soft palate morphology, Abnor... ORPHA:100050
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Bifid uvula ORPHA:293967
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension ORPHA:159
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide mouth, Microdontia, Macroglossia, Deep philtrum, Thin lower lip vermilion, Thin upper lip ve... OMIM:619194
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... ORPHA:100077
Alg9-Cdg
Ventricular septal defect, Smooth philtrum, Villous atrophy, Wide mouth, Pericardial effusion, Lo... ORPHA:79328
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Villous atrophy, Wide mouth, Long philtrum, Bifid uvula, Pulmonic sten... OMIM:222470
15Q Overgrowth Syndrome
High, narrow palate, High palate, Smooth philtrum, Bifid uvula, Dental crowding, Abnormality of t... ORPHA:314585
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Ogden Syndrome