banner
Genes Phenotypes Help, News, Blog

Gene: Otud7a MGI:2158505

Log in to follow

Gene Summary

Name:
OTU domain containing 7A
Synonyms:
Cezanne 2 protein,  Otud7

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Otud7aem1(IMPC)Bay HET   Early adult 3.88×10-05
preweaning lethality, incomplete penetrance Otud7aem1(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.

X-ray

XRay Images Skull Lateral Orientation

6 Images

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

6 Images

View images
X-ray

XRay Images Forepaw

6 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

6 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

View images

Human diseases caused by Otud7a 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 Otud7a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... OMIM:616421
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Seizure, Choreoathetosis, Ataxia, Torsion dystonia, Dystonia, Generalized no... ORPHA:98811
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Gingival Fibromatosis-Hypertrichosis Syndrome
Seizure, Delayed eruption of teeth, Gingival fibromatosis, Ataxia, Gingival overgrowth, Abnormali... ORPHA:2026
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Developmental And Epileptic Encephalopathy 6B
Chorea, Myoclonic seizure, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus wi... OMIM:619317
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... ORPHA:725
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:614018
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:618141
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... ORPHA:36387
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Hemifacial Atrophy, Progressive
Dental malocclusion, Seizure, Delayed eruption of teeth, Tongue atrophy, Ataxia, Short mandibular... OMIM:141300
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Choreoathetosis, Status epilepticus, Ataxia, Multifocal se... OMIM:615905
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Fatigable weakness, Short philtrum, Tooth agene... ORPHA:2325
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Ataxia, Action tremor, Gener... OMIM:617665
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Gingival overgrowth, Status epile... OMIM:618729
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atyp... OMIM:617113
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Thick upper lip vermilion, High palate, Seizure, Focal-onset seizure, Microgna... OMIM:619616
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
4H Leukodystrophy
Seizure, Dysdiadochokinesis, Delayed eruption of teeth, Progressive gait ataxia, Hypodontia, Atax... ORPHA:289494
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Myoclonus, Generalized myoclo... ORPHA:2590
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure OMIM:617771
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Fai... OMIM:620145
Landau-Kleffner Syndrome
Gait ataxia, Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epil... ORPHA:98818
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic absence ... OMIM:617836
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure OMIM:618596
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... ORPHA:2025
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Micrognathia, Status epilepticus, Short philtrum... OMIM:617711
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Dysmetria, Atonic seizure, Bilateral tonic-clonic seizure, Tremor... OMIM:617810
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Dystonia, Genera... OMIM:619157
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... ORPHA:2228
Pyle Disease
Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absent paranasal s... OMIM:265900
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Ramon Syndrome
Narrow palate, Seizure, Delayed eruption of teeth, Gingival fibromatosis, Failure to thrive, Abno... ORPHA:3019
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Tremor-Ataxia-Central Hypomyelination Syndrome
Impaired vibration sensation in the lower limbs, Postural tremor, Delayed eruption of teeth, Foca... ORPHA:447896
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Dravet Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... ORPHA:33069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Atoni... OMIM:619913
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, High palate, Abnormal tongue physiology, Wide mouth, Ataxia, Abnormali... ORPHA:544254
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Focal-onset seizure, Thick lower lip vermilion, Generalized myoclonic ... ORPHA:1942
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Thick lower lip vermilion, Thin upper lip vermilion, Bilateral tonic-clonic seizure, Foc... OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
48,Xxyy Syndrome
Broad jaw, Seizure, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Ataxia, Tr... ORPHA:10
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:616409
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Arthrogryposis, Impaired Intellectual Development, And Seizures
Microretrognathia, Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Choreoathetosis, Ataxia, Bilateral tonic-clonic seizure, Generalized d... OMIM:272300
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Failure to thrive, Delayed eruption of teeth, Truncal obesity ORPHA:181393
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Tooth malp... OMIM:618761
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Myoclonus, Short philtrum, Everted lower lip vermilion, Abnormal space... ORPHA:411986
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Multifocal seizures, Tongue fascicula... OMIM:618170
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (a... OMIM:616281
Obesity, Hyperphagia, And Developmental Delay
Obesity, Seizure, Generalized non-motor (absence) seizure OMIM:613886
Intellectual Developmental Disorder, Autosomal Recessive 41
Retrognathia, Generalized-onset seizure, Mandibular prognathia, High palate, Bilateral tonic-clon... OMIM:615637
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, Thick lower lip ver... OMIM:619000
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizur... OMIM:271980
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Generalized tonic seizure, Delayed eruption of teeth, Focal tonic seizure, Myo... OMIM:617105
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Dysdiadochokinesis, Delayed eruption of teeth, Natal tooth, Hypodontia, Oligodontia,... OMIM:614381
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Decreased body weight, Delayed eruption of teeth, Focal-onset seizure... OMIM:619229
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Periventricular Nodular Heterotopia 7
Pierre-Robin sequence, Seizure, Micrognathia, Dental crowding, Ataxia, Microretrognathia, Failure... OMIM:617201
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy OMIM:618815
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Seizure, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic seizure, Focal impaired a... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Seizure, Long philtrum, Delayed eruption of teeth, Wide mouth, Pain insensitivity, D... OMIM:618825
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure, High palate, Long philtrum, Micrognathia, Bifid uvula, Thin upp... ORPHA:576283
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Obesity, Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Long philtrum, Ataxia, Tonic seizure, B... OMIM:619428
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Decreased body weight, High palate, Thick lower lip vermilion, Micrognathia, Hypodo... OMIM:618342
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Seizure, Long philtrum, Delayed eruption of teeth, Macroglossia, Ataxia, Dental crow... OMIM:616354
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Macroglossia, Increased body weight OMIM:614450
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Ataxia, Dystonia, Generalized non-motor (absence) seizure OMIM:617183
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, High palate, Delayed eruption of teeth, Micrognathia, Broad alveolar... ORPHA:2863
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... OMIM:273050
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Cerebrooculofacioskeletal Syndrome 1
Seizure, Long philtrum, Delayed eruption of teeth, Small for gestational age, Micrognathia, Failu... OMIM:214150
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:615476
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... OMIM:212138
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Seizure, Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Infantile spasms OMIM:619797
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Generalized myoclonic seizure, Atonic seizure, Bilateral tonic-... ORPHA:101070
Developmental And Epileptic Encephalopathy 110
Chorea, High palate, Focal impaired awareness hemiclonic seizure, Pain insensitivity, Tented uppe... OMIM:620149
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border OMIM:618506
Nicolaides-Baraitser Syndrome
Seizure, Long philtrum, Wide mouth, Status epilepticus, Everted lower lip vermilion, Thin vermili... ORPHA:3051
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Cachexia, Everted lower lip ... ORPHA:884
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... OMIM:613873
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, High palate, Seizure, Thin upper lip vermilion, Bilateral tonic-clonic... OMIM:300558
Coffin-Siris Syndrome 2
High palate, Seizure, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Wide m... OMIM:614607
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness se... OMIM:617600
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Temple-Baraitser Syndrome
High palate, Seizure, Everted upper lip vermilion, Delayed eruption of teeth, Long philtrum, Wide... ORPHA:420561
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Microdontia, Bilateral tonic-clonic seizure, Narrow mouth, Delayed eruption of perm... OMIM:619356
Hall-Riggs Syndrome
Seizure, Wide mouth, Delayed eruption of teeth, Failure to thrive, Downturned corners of mouth, A... ORPHA:2107
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Decreased body weight, Seizure, High palate, Widely spaced teeth, Status epilepticus, Ata... OMIM:300260
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Pyridoxine-Dependent Epilepsy
Seizure, Focal-onset seizure, Status epilepticus, Early onset absence seizures, Atonic seizure, E... ORPHA:3006
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... OMIM:257850
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Torticollis, Abnormal mandible morphology, Natal tooth OMIM:217150
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Microdontia, Tooth agenesis, Truncal obesity ORPHA:633
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Coffin-Siris Syndrome 3
High palate, Seizure, Long philtrum, Wide mouth, Macroglossia, Delayed eruption of permanent teet... OMIM:614608
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:612463
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth ORPHA:181
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... OMIM:619736
Frank-Ter Haar Syndrome
Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Short philtrum, Premature loss of t... ORPHA:137834
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... OMIM:613849
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Chromosome Xp11.23-P11.22 Duplication Syndrome
Widely-spaced incisors, Short philtrum, Smooth philtrum, Thin vermilion border, Generalized non-m... OMIM:300801
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Acrootoocular Syndrome
Dental malocclusion, Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish ... ORPHA:2980
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Hypoplasi... ORPHA:915
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
48,Xxxy Syndrome
Mandibular prognathia, Seizure, Delayed eruption of teeth, Taurodontia, Tremor, Carious teeth, Cl... ORPHA:96263
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Momo Syndrome
Thick upper lip vermilion, Dental malocclusion, High palate, Seizure, Long philtrum, Delayed erup... ORPHA:2563
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, High palate, Seizure, Long philtrum, Deep philtrum, Large for gestational age,... OMIM:615398
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure, Ataxia ORPHA:467166
Smith-Magenis Syndrome
Cleft upper lip, Mandibular prognathia, Seizure, Delayed eruption of primary teeth, Micrognathia,... ORPHA:819
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Deep philtrum, Micrognathia, Generalized myoclonic seizure, Short philtrum... ORPHA:435638
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Seizure, Delayed eruption of teeth ORPHA:2238
Momo Syndrome
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... OMIM:157980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dental malocclusion, High palate, Delayed eruption of teeth, Hypodontia, Bifid uvula OMIM:612350
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Seizure, Wide mouth, Widely spaced teeth, Bilateral tonic-clonic seizure, ... ORPHA:98795
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Three M Syndrome 2
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Small for gestational... OMIM:612921
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Generalized myoclonic seizure, Status epilepticus, Short philtrum, Ataxia,... OMIM:300912
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Micrognathia, Failure to thrive, Truncal ob... ORPHA:73272
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... OMIM:616367
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
49,Xxxxy Syndrome
Mandibular prognathia, Seizure, Delayed eruption of teeth, Taurodontia, Tremor, Carious teeth, Cl... ORPHA:96264
Dpm1-Cdg
Generalized tonic seizure, Seizure, Micrognathia, Generalized myoclonic seizure, Early onset abse... ORPHA:79322
Emanuel Syndrome
Broad jaw, High palate, Seizure, Long philtrum, Delayed eruption of teeth, Micrognathia, Bifid uv... ORPHA:96170
Pycnodysostosis
Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, High palate, Delayed eruption o... ORPHA:763
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Coffin-Lowry Syndrome
Narrow palate, Seizure, High palate, Delayed eruption of teeth, Widely spaced teeth, Thick lower ... ORPHA:192
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, High palate, Seizure, Delayed eruption of teeth, Small for gestational age, ... OMIM:619148
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Mandibular prognathia, High palate, Seizure, Abnormality of dental eruption,... ORPHA:1327
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Febrile seizure (within the age range of 3 months to 6 years), Retrognathia, High palate, Microgn... OMIM:301091
Emanuel Syndrome
Broad jaw, High palate, Seizure, Long philtrum, Delayed eruption of primary teeth, Micrognathia, ... OMIM:609029
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure,... OMIM:613839
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... ORPHA:2712
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Myoclonic seizure, Chorea, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:619777
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Seizure... ORPHA:79101
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Open bite, H... ORPHA:1452
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Bilateral tonic-clonic seizure with focal onset, High palate, Focal-onset seizure, Short philtrum... OMIM:618354
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Seizure, Delayed eruption of teeth OMIM:612462
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Typical absence seizure, Seizure, Focal-onset seizure, Myo... ORPHA:168491
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:1934
Cockayne Syndrome Type 2
Enamel hypoplasia, Mandibular prognathia, Delayed eruption of primary teeth, Anodontia, Widely sp... ORPHA:90322
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seizure, Postural tremor, Delayed eruption of teeth, Truncal ataxia, Microdontia, Myoclonus, Wide... OMIM:301072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Pycnodysostosis
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... OMIM:265800
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Focal-onset seizure,... ORPHA:501
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Seizure, Delayed eruption of teeth OMIM:103580
Char Syndrome
No permanent dentition, Short philtrum, Everted lower lip vermilion, Persistence of primary teeth... ORPHA:46627
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive, Hypocalcemic seizures, Carious t... OMIM:277440
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Wide mouth, Micrognathia, Short philtrum, Thin upper lip vermilion, Widely-spaced ma... ORPHA:363686
Cockayne Syndrome Type 1
Enamel hypoplasia, Mandibular prognathia, Seizure, Delayed eruption of primary teeth, Anodontia, ... ORPHA:90321
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... ORPHA:50814
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... OMIM:170390
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Generalized myoclonic seizure, Failure to thrive, Bilatera... ORPHA:79351
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy OMIM:600996
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Seizure, Focal motor seizure, Opisthotonus, Generalized myoclonic seiz... ORPHA:95232
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Long philtrum, Deep philtrum, Delayed eruption of teeth, Micr... OMIM:190350
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... OMIM:616973
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Bifid uvula, Failure to thrive, Bilateral tonic-clonic seizure, Ge... OMIM:615802
Angelman Syndrome
Mandibular prognathia, Seizure, Wide mouth, Widely spaced teeth, Myoclonus, Generalized myoclonic... ORPHA:72
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Seizure, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... ORPHA:2409
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Small for gestational age, Micrognathia, Hypodont... OMIM:269880
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Seizure, Short lingual frenulum, Microdontia, Short philtrum, Thin upp... OMIM:617360
Aredyld Syndrome
Mandibular prognathia, Advanced eruption of teeth, Cachexia, Craniofacial hyperostosis, Narrow mo... ORPHA:1133
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, High palate, Seizure, Long philtrum, Truncal titubatio... OMIM:618056
Kleefstra Syndrome
Mandibular prognathia, Seizure, Delayed eruption of teeth, Advanced eruption of teeth, Macrogloss... ORPHA:261494
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Generalized tonic seizure, Focal impaired awareness seizure ORPHA:163985
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Status epilepticus, Macroglossia, Everted lower lip vermilion, Failure to thrive, Downtu... ORPHA:96147
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Hypocalcemic seizures OMIM:264700
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Acrofacial Dysostosis, Weyers Type
Conical tooth, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morphology, Solitar... ORPHA:952
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Marbach-Rustad Progeroid Syndrome
Eruption failure, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Narrow mouth, Smoo... OMIM:619322
Dysosteosclerosis
High palate, Seizure, Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognat... OMIM:224300
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Ataxia, Failure to thrive, Bilateral... ORPHA:395
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Open bite ORPHA:950
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Exaggerated startle response, Mandibular prognathia, Seizure, Status epilepticus, Short p... OMIM:617864
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
Eiken Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Eruption failure, Decreased body w... OMIM:600002
Kinsship Syndrome
Mandibular prognathia, Wide mouth, Widely spaced teeth, Focal-onset seizure, Micrognathia, Myoclo... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Micrognathia, Short philtrum, Thin upper lip vermilion, Smooth philtrum, Generalized non... OMIM:612337
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, ... ORPHA:2780
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Microdontia, Oligodontia, Failure to thrive, Abnormality of the dentition ORPHA:2315
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent ... OMIM:218400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Focal emotional seizure with laughing, Lingual dystonia, Small for gestational age, Myocl... ORPHA:404454
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Retrognathia, Seizure, Limb dystonia, Generalized myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:457351
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Lead Poisoning
Small for gestational age, Somatic sensory dysfunction, Seizure, Delayed eruption of teeth ORPHA:330015
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Widely spaced teeth, Advanced eruption of teeth, Ataxia, Everted lower lip vermilion, Failure to ... OMIM:617865
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Seizure, Delayed eruption of teeth, Micrognathia, Failure to thrive, T... OMIM:247200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Eruption failure, High palate, Seizure, Long philtrum, Micrognathia, Failure to thri... ORPHA:476126
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exaggerated star... OMIM:300607
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Narrow palate, Seizure, Delayed eruption of teeth, Oligodontia, Narrow mouth, Smoot... OMIM:235510
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Intellectual Developmental Disorder, Autosomal Dominant 54
Seizure, Delayed eruption of primary teeth, Widely spaced teeth, Small for gestational age, Ataxi... OMIM:617799
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia ORPHA:3214
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Kleefstra Syndrome 1
Mandibular prognathia, Seizure, Natal tooth, Macroglossia, Everted lower lip vermilion, Protrudin... OMIM:610253
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... OMIM:607812
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Paresthesia, Delayed eruption of teeth, Myoclonic spasms, Laryngeal dystonia, ... ORPHA:94089
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Seizure, Crowded maxillary incisors, Micrognathia, Abnormal palate morphology, Mul... ORPHA:2063
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Gapo Syndrome
Mandibular prognathia, Long philtrum, Delayed eruption of teeth, Micrognathia, Everted lower lip ... ORPHA:2067
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seizure, Delayed eruption of teeth, Thick lower lip vermilion, Micrognathia, Abnormality of denta... ORPHA:369950
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Hypocalcemic seizures ORPHA:289157
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
High palate, Delayed eruption of teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ... OMIM:615866
Rothmund-Thomson Syndrome
Selective tooth agenesis, Small for gestational age, Microdontia, Delayed eruption of teeth, Supe... ORPHA:2909
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Exaggerated startle response, High palate, Seizure, Ataxia, Thin upper lip v... ORPHA:438216
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia ORPHA:221098
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, Long philtrum, Exaggerated cupid's bow, Micrognathia, Generalized myoc... ORPHA:369837
De Barsy Syndrome
High palate, Delayed eruption of teeth, Failure to thrive, Narrow mouth, Small, conical teeth, Pr... ORPHA:2962
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Tachycardia, Atrial fibrillation OMIM:613327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Advanced eruption of teeth, Mandibular prognathia, High palate OMIM:262190
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Small for gestational age,... OMIM:101800
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Melnick-Needles Syndrome
Micrognathia, Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:2484
Mucopolysaccharidosis, Type Ii
Seizure, Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Macroglossia OMIM:309900
3M Syndrome
Everted lower lip vermilion, Abnormal dental enamel morphology, Long philtrum, Delayed eruption o... ORPHA:2616
Frontometaphyseal Dysplasia 1
Dental malocclusion, High palate, Selective tooth agenesis, Delayed eruption of teeth, Antegonial... OMIM:305620
Spondyloenchondrodysplasia
Chorea, Dental malocclusion, Seizure, Delayed eruption of teeth ORPHA:1855
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, E... OMIM:614753
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Macrodontia of permanent maxillary central incisor, Seizure, Open m... OMIM:620114
Microphthalmia, Lenz Type
Seizure, Delayed eruption of teeth, Abnormality of dental morphology, Orofacial cleft, Abnormalit... ORPHA:568
D-Glyceric Aciduria
Bradycardia OMIM:220120
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Natal tooth, Focal-onset seizure, Micrognathia, Status epilepticus OMIM:617802
Osteoglosphonic Dysplasia
Micrognathia, Multiple unerupted teeth, Failure to thrive in infancy, Tooth agenesis ORPHA:2645
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Tay-Sachs Disease
Exaggerated startle response, Typical absence seizure, Seizure, Myoclonus, Dysmetria, Tremor, Foc... ORPHA:845
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Delayed eruption of teeth, Small for gestational age, Microgn... OMIM:268400
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Paresthesia, Delayed eruption of teeth, Myoclonic spasms, Laryngeal dystonia, ... ORPHA:79444
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am... OMIM:204690
Cole-Carpenter Syndrome