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Gene: Otud7a MGI:2158505

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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

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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 Forepaw

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MicroCT E18.5

Embryo reconstruction

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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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
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Chorea, Tremor, Gait ataxia, At... OMIM:618587
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... OMIM:611493
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... OMIM:617831
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Dravet Syndrome
Generalized clonic seizure, Status epilepticus, Ataxia, Myoclonic seizure, Focal hemiclonic seizu... OMIM:607208
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Developmental And Epileptic Encephalopathy 74
Infantile spasms, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral t... OMIM:618396
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Myoclonic seizure, Tremor, Atonic seizure, Generalized non-motor (absen... OMIM:616421
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Status epilepticus, Focal-onset seizure, F... OMIM:300088
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Paroxysmal Exertion-Induced Dyskinesia
Paresthesia, Ataxia, Chorea, Seizure, Generalized non-motor (absence) seizure, Torsion dystonia, ... ORPHA:98811
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Focal-onset seizure, Focal clonic seizure, Focal hemiclonic seizure, F... ORPHA:725
Epilepsy, Familial Temporal Lobe, 1
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... OMIM:600512
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Ataxia, Gingival fibromatosis, Seizure, Delayed eruption of teeth, ... ORPHA:2026
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Focal-onset seizure, Ataxia, Myoclonic seizure, Focal hemiclonic seizu... OMIM:619317
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Epilepsy, Progressive Myoclonic, 6
Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gen... OMIM:614018
Developmental And Epileptic Encephalopathy 67
Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:618141
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, ... ORPHA:306
Lissencephaly 10
Torticollis, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized-onse... OMIM:618873
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months ... OMIM:604403
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Status epilepticus, Ataxia, Multifocal seizures, Amelogenesis imperfecta, Delayed eruption of tee... OMIM:615905
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Focal-onset seizure, Ataxia, Generalized-onset seizure, Febrile seizure (with... ORPHA:36387
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Focal-onset seizure, Ataxia, Myoclonic seizure, Clonic seizure, Febrile seizu... OMIM:615871
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Hemifacial Atrophy, Progressive
Ataxia, Short mandibular rami, Seizure, Dental malocclusion, Tongue atrophy, Delayed eruption of ... OMIM:141300
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:2325
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure,... OMIM:615369
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Ataxia, Myoclonic seizure, Focal motor seizure, Seizure, Generalized non-moto... OMIM:617665
Liang-Wang Syndrome
Macroglossia, Status epilepticus, Diastema, Ataxia, Everted lower lip vermilion, Downturned corne... OMIM:618729
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... ORPHA:2972
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Febrile seizure (within the ... ORPHA:101039
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Episodic Ataxia, Type 5
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... OMIM:613855
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizu... OMIM:616056
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizur... OMIM:616346
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Atyp... OMIM:617113
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Focal impaired awar... OMIM:616172
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, High palate, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic sei... OMIM:619616
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized clonic seizure, Focal impaired... ORPHA:98818
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
4H Leukodystrophy
Abnormality of the dentition, Ataxia, Progressive gait ataxia, Dysdiadochokinesis, Tremor, Seizur... ORPHA:289494
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Typic... OMIM:620145
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Eyelid myoclonus, Myocloni... ORPHA:2590
Developmental And Epileptic Encephalopathy 57
Tonic seizure, Epileptic spasm, Generalized myoclonic seizure, Seizure, Atypical absence seizure OMIM:617771
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Myoclonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure... OMIM:615744
Perioral Myoclonia With Absences
Focal seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic seizur... ORPHA:139426
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,... OMIM:617836
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizur... ORPHA:79137
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized non-motor (absence) seizure, Generalized... OMIM:607631
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Status epilepticus, Generalized non-motor (absence) seizure, Bilateral t... OMIM:254770
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Juvenile Myoclonic Epilepsy
Status epilepticus, Generalized-onset seizure, Febrile seizure (within the age range of 3 months ... ORPHA:307
Developmental And Epileptic Encephalopathy 54
Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptom... OMIM:617391
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Gait ataxia, Atonic seizure, Generaliz... OMIM:617810
Developmental And Epileptic Encephalopathy 91
Status epilepticus, Myoclonic seizure, Focal motor seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Abnormality of dental morphology, Gingival fibromatosis, Everted lower lip vermilion... ORPHA:2025
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Seizure, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:616685
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 yea... OMIM:617350
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:254800
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Developmental And Epileptic Encephalopathy 13
Generalized clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Foca... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... ORPHA:2228
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Mandibular prognathia, Persistence of prim... OMIM:265900
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Ramon Syndrome
Gingival fibromatosis, Failure to thrive, Seizure, Narrow palate, Delayed eruption of teeth, Abno... ORPHA:3019
Tremor-Ataxia-Central Hypomyelination Syndrome
Oligodontia, Focal-onset seizure, Ataxia, Postural tremor, Impaired vibration sensation in the lo... ORPHA:447896
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Lennox-Gastaut Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Atonic seizur... ORPHA:2382
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Developmental And Epileptic Encephalopathy 103
Eyelid myoclonus, Ataxia, Myoclonic seizure, Trismus, Focal impaired awareness seizure, Tonic sei... OMIM:619913
Dravet Syndrome
Generalized clonic seizure, Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (withi... ORPHA:33069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613863
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Focal hemiclonic seizure, Focal impair... OMIM:619606
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tented upper lip vermilion, Sei... OMIM:619854
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormality of pain sensation, High palate, Myoclonic absence seizure, Abnormal tongue physiology... ORPHA:544254
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Ataxia, Broad philtru... ORPHA:1942
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Seizure OMIM:616409
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal seizure with eyelid ... ORPHA:139431
Bilateral Generalized Polymicrogyria
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Generalized-onset se... ORPHA:208447
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-mo... OMIM:604233
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:609800
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
48,Xxyy Syndrome
Ataxia, Taurodontia, Broad jaw, Cleft palate, Tremor, Seizure, Delayed eruption of teeth, Carious... ORPHA:10
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Arthrogryposis, Impaired Intellectual Development, And Seizures
Microretrognathia, Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Sulfite Oxidase Deficiency, Isolated
Ataxia, Generalized dystonia, Bilateral tonic-clonic seizure, Delayed eruption of teeth, Choreoat... OMIM:272300
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Thick lower lip vermilion, Myoclonic s... OMIM:619000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Focal impaired awareness seizure, Everted lower lip vermilion, Atonic seizure, ... ORPHA:411986
Growth Hormone Insensitivity Syndrome
Truncal obesity, Delayed eruption of teeth, Everted lower lip vermilion, Failure to thrive ORPHA:181393
Catifa Syndrome
Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of teeth, Increased o... OMIM:618761
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Generalized non-motor (a... OMIM:616281
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:86909
Developmental And Epileptic Encephalopathy 41
Myoclonic status epilepticus, Myoclonic seizure, Status epilepticus without prominent motor sympt... OMIM:617105
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizur... OMIM:271980
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Multifocal seizures, Bilateral tonic-clonic seizure, Seizure, Intention tremor, Generaliz... OMIM:618170
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Oligodontia, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Delayed eruption ... OMIM:614381
Intellectual Developmental Disorder, Autosomal Recessive 41
High palate, Retrognathia, Generalized-onset seizure, Mandibular prognathia, Bilateral tonic-clon... OMIM:615637
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... ORPHA:1028
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Focal-onset seizure, Widely spaced teeth, Smooth philtrum, Carious teeth, Ove... OMIM:619229
Dentinogenesis Imperfecta
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... ORPHA:49042
Periventricular Nodular Heterotopia 7
Infantile spasms, Ataxia, Failure to thrive, Cleft palate, Seizure, Narrow mouth, Generalized non... OMIM:617201
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Rolandic Epilepsy
Paresthesia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Dysesthesia, F... ORPHA:1945
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... OMIM:608751
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Abnormality of the dentition, Bifid uvula, Cleft palate, Typical absence seizure, Se... ORPHA:576283
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Progressive cerebellar ataxia, Focal impaired awareness seizure, Bilateral toni... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Pain insensitivity, Dental crowding, Seizure, Long philtrum, Delayed eruption of tee... OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Wide mouth, Obesity OMIM:616521
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Spinocerebellar Ataxia, Autosomal Recessive 20
Macroglossia, High palate, Ataxia, Broad philtrum, Dental crowding, Seizure, Long philtrum, Delay... OMIM:616354
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal impaired awarene... OMIM:619428
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Open mouth, High palate, Retrognathia, Persistence of primary teeth, Overjet, Micrognathia, Evert... OMIM:618342
Harel-Yoon Syndrome
Ataxia, Mandibular prognathia, Generalized non-motor (absence) seizure, Micrognathia, Dystonia OMIM:617183
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Increased body mass index, Increased body weight OMIM:614450
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, High palate, Tooth agenesis, Delayed eruption of teeth, Micrognathia... ORPHA:2863
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Infantile spasms, Widely spaced teeth, Seizure, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Failure to thrive, Seizure, Long philtrum, Thin vermilion border, Cari... OMIM:214150
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... OMIM:615476
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:101070
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Developmental And Epileptic Encephalopathy 110
High palate, Focal impaired awareness hemiclonic seizure, Chorea, 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
Status epilepticus, Epileptic spasm, Everted lower lip vermilion, High, narrow palate, Seizure, G... ORPHA:3051
Coffin-Siris Syndrome 2
Macroglossia, High palate, Cleft palate, Seizure, Long philtrum, Delayed eruption of teeth, Thick... OMIM:614607
Intellectual Developmental Disorder, X-Linked 30
Open mouth, High palate, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence)... OMIM:300558
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... OMIM:613873
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Everted lower lip vermilion, Downturned corners of mou... ORPHA:884
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... OMIM:620247
Immunodeficiency 33
Conical tooth, Hypodontia, Delayed eruption of teeth OMIM:300636
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... ORPHA:330001
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
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Temple-Baraitser Syndrome
Open mouth, High palate, Malar flattening, Everted lower lip vermilion, Tented upper lip vermilio... ORPHA:420561
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-mot... OMIM:619338
Hall-Riggs Syndrome
Abnormal dental enamel morphology, Failure to thrive, Seizure, Downturned corners of mouth, Delay... ORPHA:2107
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, Bilateral tonic-clonic seizure, Microdontia, Delayed eruption of permanent teeth, Nar... OMIM:619356
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizur... OMIM:617600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, High palate, Ataxia, Malar flattening, Widely spaced teeth, Tonic seizure, Ch... OMIM:300260
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Pyridoxine-Dependent Epilepsy
Status epilepticus, Focal-onset seizure, Focal aware motor seizure, Epileptic spasm, Atonic seizu... ORPHA:3006
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Abnormal mandible morphology, Torticollis, Natal tooth, Cleft palate OMIM:217150
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Coffin-Siris Syndrome 3
Macroglossia, High palate, Delayed eruption of permanent teeth, Cleft palate, Seizure, Long philt... OMIM:614608
Laron Syndrome
Tooth agenesis, Truncal obesity, Microdontia, Delayed eruption of teeth, Micrognathia ORPHA:633
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612463
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Illum Syndrome
Bradycardia OMIM:208155
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... OMIM:601005
Teebi Hypertelorism Syndrome 2
High palate, Microdontia, Everted lower lip vermilion, Cleft palate, Delayed eruption of teeth, T... OMIM:619736
Frank-Ter Haar Syndrome
Premature loss of teeth, Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, T... ORPHA:137834
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Osteogenesis Imperfecta, Type Xii
High palate, Malar flattening, Narrow mouth, Delayed eruption of teeth, Micrognathia, Dentinogene... OMIM:613849
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, Generalized non-motor (absence) seizure, Thin vermilion border, Smooth ph... OMIM:300801
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
48,Xxxy Syndrome
Mandibular prognathia, Taurodontia, Cleft palate, Tremor, Seizure, Delayed eruption of teeth, Car... ORPHA:96263
Ebstein Anomaly
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... OMIM:224700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Aarskog-Scott Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Cleft palate, Long philtrum, Delayed e... ORPHA:915
Acrootoocular Syndrome
Small for gestational age, Grayish enamel, Anodontia, Failure to thrive, High, narrow palate, Den... ORPHA:2980
Oculodentodigital Dysplasia, Autosomal Recessive
Hypoplasia of teeth, Failure to thrive, Dental crowding, Narrow mouth, Hypoplasia of the primary ... OMIM:257850
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Momo Syndrome
High palate, Taurodontia, Seizure, Dental malocclusion, Long philtrum, Smooth philtrum, Delayed e... ORPHA:2563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Open mouth, Abnormality of the dentition, High palate, Ataxia, Myoclonic seizure, Deep philtrum, ... OMIM:615398
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
3P25.3 Microdeletion Syndrome
Ataxia, Deep philtrum, Mandibular prognathia, Bilateral tonic-clonic seizure, Generalized myoclon... ORPHA:435638
Smith-Magenis Syndrome
Impaired pain sensation, Open mouth, Failure to thrive in infancy, Mandibular prognathia, Taurodo... ORPHA:819
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure, Ataxia ORPHA:467166
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Muscular Dystrophy, Congenital, With Or Without Seizures
Focal-onset seizure, Ataxia, Myoclonic seizure, Generalized-onset seizure, Generalized non-motor ... OMIM:620166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Familial Isolated Hypoparathyroidism
Seizure, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Momo Syndrome
High palate, Taurodontia, Dental malocclusion, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia OMIM:612350
Cln3 Disease
Bradycardia, T-wave inversion ORPHA:228346
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Widely spaced teeth, Mandibular prognathia... ORPHA:98795
Intellectual Developmental Disorder, X-Linked 98
Infantile spasms, Status epilepticus, Open mouth, Ataxia, Tonic seizure, Bilateral tonic-clonic s... OMIM:300912
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Three M Syndrome 2
Small for gestational age, High palate, Malar flattening, Dental malocclusion, Long philtrum, Del... OMIM:612921
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Truncal obesity, Failure to thrive, Delayed eruption of teeth, Microgn... ORPHA:73272
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Cleft palate, Dental crowding, Glossoptosis, Micrognathia, ... OMIM:616367
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Arrhythmia, Cardiomyopathy OMIM:609286
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Emanuel Syndrome
High palate, Tooth malposition, Bifid uvula, Submucous cleft lip, Broad jaw, Failure to thrive, C... ORPHA:96170
49,Xxxxy Syndrome
Mandibular prognathia, Taurodontia, Cleft palate, Tremor, Seizure, Delayed eruption of teeth, Car... ORPHA:96264
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Dpm1-Cdg
Ataxia, Generalized myoclonic seizure, Micrognathia, Failure to thrive, U-Shaped upper lip vermil... ORPHA:79322
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Pycnodysostosis
High palate, Abnormality of the dentition, Overweight, Persistence of primary teeth, Delayed erup... ORPHA:763
Emanuel Syndrome
High palate, Torticollis, Broad jaw, Cleft palate, Failure to thrive, Seizure, Dental crowding, L... OMIM:609029
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure,... OMIM:613839
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, High palate, Widely spaced teeth, Abnormality of dental mo... ORPHA:192
Hyperprolinemia Type 2
Distal sensory impairment, Status epilepticus, Generalized-onset seizure, Dysesthesia, Febrile se... ORPHA:79101
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, High palate, Mandibular prognathia, Seizure, Downturned corners o... ORPHA:1327
Chromosome 13Q33-Q34 Deletion Syndrome
Small for gestational age, Open mouth, High palate, Irregular dentition, Cleft lip, Advanced erup... OMIM:619148
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
High palate, Retrognathia, Febrile seizure (within the age range of 3 months to 6 years), Tonic s... OMIM:301091
Oculofaciocardiodental Syndrome
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Submuco... ORPHA:2712
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Tetanus
Bradycardia, Hypertension, Tachycardia ORPHA:3299
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized myocl... ORPHA:168491
Developmental And Epileptic Encephalopathy 100
Infantile spasms, High palate, Focal-onset seizure, Myoclonic status epilepticus, Myoclonic seizu... OMIM:619777
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Infantile spasms, High palate, Torticollis, Bilateral tonic-clonic seizure, Athetosis, Pain insen... OMIM:620224
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral toni... OMIM:618354
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Status epilepticus, Ataxia, Postural tremor, Truncal obesity, Widely spaced teeth, Microdontia, S... OMIM:301072
Cleidocranial Dysplasia
Abnormality of the dentition, Hypoplasia of the zygomatic bone, Mandibular prognathia, Abnormal d... ORPHA:1452
Pseudohypoparathyroidism, Type Ic
Seizure, Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612462
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Infantile spasms, Focal-onset seizure, Febrile seizure (within the ag... ORPHA:1934
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Cockayne Syndrome Type 2
Widely spaced primary teeth, Anodontia, Ataxia, Mandibular prognathia, Enamel hypoplasia, Hypopla... ORPHA:90322
Pycnodysostosis
Persistence of primary teeth, Delayed eruption of permanent teeth, Absent frontal sinuses, Narrow... OMIM:265800
Cockayne Syndrome Type 1
Abnormality of the dentition, Widely spaced primary teeth, Anodontia, Ataxia, Mandibular prognath... ORPHA:90321
Craniolenticulosutural Dysplasia
Premature loss of teeth, High palate, Hypoplasia of teeth, Microdontia, Long philtrum, Smooth phi... ORPHA:50814
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Carious t... OMIM:277440
Char Syndrome
Malar flattening, Persistence of primary teeth, Everted lower lip vermilion, Triangular mouth, Th... ORPHA:46627
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Generalized non-motor (absence) seizure, Wide mouth, Short philtrum, Micrognathia, T... ORPHA:363686
Lafora Disease
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal s... ORPHA:501
Pseudohypoparathyroidism, Type Ia
Seizure, Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:103580
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
High palate, Focal impaired awareness seizure, Truncal titubation, Tremor, Gait ataxia, Exaggerat... OMIM:618056
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Andersen Cardiodysrhythmic Periodic Paralysis
Oligodontia, High palate, Antegonial notching of mandible, Malar flattening, Persistence of prima... OMIM:170390
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Generalized myoclonic se... ORPHA:95232
Angelman Syndrome
Infantile spasms, Status epilepticus, Ataxia, Widely spaced teeth, Mandibular prognathia, General... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 42
Infantile spasms, Limb dystonia, Status epilepticus, Focal-onset seizure, High palate, Myoclonic ... OMIM:616973
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Failur... ORPHA:79351
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Trichorhinophalangeal Syndrome, Type I
Deep philtrum, Microdontia, Narrow palate, Long philtrum, Delayed eruption of teeth, Carious teet... OMIM:190350
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Bifid uvula, Bilateral tonic-clonic seizure, Enamel hypoplasia, Fai... OMIM:615802
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Cleft palate, High, narrow palate, Seizure, Downturned corners of mouth... ORPHA:2409
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Short Syndrome
Small for gestational age, Downturned corners of mouth, Dental malocclusion, Delayed eruption of ... OMIM:269880
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Microdontia, Seizure, Narrow mouth, Generalized non-motor (absence) seizu... OMIM:617360
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Cachexia, Advanced eruption of teeth, Narrow mo... ORPHA:1133
Kleefstra Syndrome
Macroglossia, Malar flattening, Mandibular prognathia, Everted lower lip vermilion, Advanced erup... ORPHA:261494
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Status epilepticus, Epileptic spasm, Failure to thrive, Everted lower lip vermilion... ORPHA:96147
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive OMIM:264700
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Solitary median maxillary central incisor, Advanced ... ORPHA:952
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Status epilepticus, Mandibular prognathia, Failure to thrive, Chorea, Exaggerated startle respons... OMIM:617864
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Intention tremor, Smooth philtrum, Hypodontia, Micrognathia, Dela... OMIM:619322
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure, Smooth philtrum, Short philtrum, Micrognathia, ... OMIM:612337
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Infantile spasms, Limb dystonia, Retrognathia, Bilateral tonic-clonic seizure, Generalized myoclo... ORPHA:457351
Dysosteosclerosis
Absent paranasal sinuses, Oligodontia, Premature loss of teeth, High palate, Absent frontal sinus... OMIM:224300
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus, Failure to thrive OMIM:618201
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Failu... ORPHA:395
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Acrodysostosis
Open mouth, Mandibular prognathia, Delayed eruption of teeth, Open bite, Hypoplasia of the maxilla ORPHA:950
Eiken Syndrome
Oligodontia, Eruption failure, Febrile seizure (within the age range of 3 months to 6 years), Per... OMIM:600002
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Bifid uvula, Facial hyperostosis, Submucous cleft hard palate, Cleft palate, High, ... ORPHA:2780
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension OMIM:619272
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Facial hyperostosis, Delayed eruption of permanent teeth, Mandibular progn... OMIM:218400
Johanson-Blizzard Syndrome
Oligodontia, Abnormality of the dentition, Microdontia, Failure to thrive, Delayed eruption of teeth ORPHA:2315
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Open mouth, Ataxia, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, Advanced... OMIM:617865
Kinsship Syndrome
Focal-onset seizure, Ankyloglossia, Widely spaced teeth, Mandibular prognathia, Bilateral tonic-c... OMIM:619297
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Fatigable weakness of speech muscles, Infantile spasms, Small for gestational age, Generalized my... ORPHA:404454
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Lead Poisoning
Seizure, Small for gestational age, Somatic sensory dysfunction, Delayed eruption of teeth ORPHA:330015
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:614207
Miller-Dieker Lissencephaly Syndrome
Infantile spasms, Epileptic spasm, Cleft palate, Failure to thrive, Seizure, Delayed eruption of ... OMIM:247200
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cl... OMIM:300607
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Abnormality of the dentition, Eruption failure, Failure to thrive, Tremor, Gait atax... ORPHA:476126
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Retrognathia, Conical incisor, Malar flattening, Seizure, Narrow palate, Narrow mout... OMIM:235510
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Ataxia, Focal impaired awareness seizure, Widely spaced teeth, Bilater... OMIM:617799
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border OMIM:601957
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Macrodontia, Delayed eruption of teeth, Short philtrum ORPHA:3214
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Hypoplasia of teeth, Malar flattening, Cleft palate, Long philtrum, Smo... OMIM:607812
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Abnormality of dental morphology, Failure to thrive, High, narrow palate, Seizure, ... ORPHA:369950
Pseudohypoparathyroidism Type 1B
Myoclonic spasms, Paresthesia, Hypocalcemic seizures, Enamel hypoplasia, Laryngeal dystonia, Dela... ORPHA:94089
Gapo Syndrome
Abnormal palate morphology, Mandibular prognathia, Everted lower lip vermilion, Long philtrum, De... ORPHA:2067
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Open mouth, High palate, Everted lower lip vermilion, Delayed eruption of teeth, Thick vermilion ... OMIM:615866
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Abnormal palate morphology, Micrognathia, Seizure, Narrow palate, Crowded maxilla... ORPHA:2063
De Barsy Syndrome
High palate, Progressive cerebellar ataxia, Failure to thrive, Athetosis, Narrow mouth, Delayed e... ORPHA:2962
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Ataxia, Abnormality of primary teeth, Tented upper lip vermilion, Exaggerated startl... ORPHA:438216
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive ORPHA:289157
Kleefstra Syndrome 1
Macroglossia, Malar flattening, Mandibular prognathia, Persistence of primary teeth, Everted lowe... OMIM:610253
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Rothmund-Thomson Syndrome
Small for gestational age, Abnormality of the dentition, Selective tooth agenesis, Hypoplasia of ... ORPHA:2909
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Open mouth, Exaggerated startle response, Seizure, Thick vermilion border, Macrodontia of permane... OMIM:620114
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Small for gestational age, Mandibular prognathia, High palate OMIM:262190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, Malar flattening, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:369837
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Microphthalmia, Lenz Type
Abnormality of the dentition, Abnormality of dental morphology, Seizure, Delayed eruption of teet... ORPHA:568
Malan Syndrome
Retrognathia, Mandibular prognathia, Hyperplasia of the premaxilla, Everted lower lip vermilion, ... OMIM:614753
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth,... OMIM:101800
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic se... OMIM:619835
Melnick-Needles Syndrome
Craniofacial hyperostosis, Tooth malposition, Delayed eruption of teeth, Micrognathia ORPHA:2484
Mucopolysaccharidosis, Type Ii
Macroglossia, Widely spaced teeth, Seizure, Delayed eruption of teeth, Thick lower lip vermilion OMIM:309900
Frontometaphyseal Dysplasia 1
High palate, Antegonial notching of mandible, Selective tooth agenesis, Persistence of primary te... OMIM:305620
3M Syndrome
Abnormal dental enamel morphology, Long philtrum, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Spondyloenchondrodysplasia
Seizure, Dental malocclusion, Delayed eruption of teeth, Chorea ORPHA:1855
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Open mouth, Myoclonic seizure, Cleft lip, Widely spaced teeth, Bilateral tonic-clonic seizure, Cl... OMIM:280000
Tay-Sachs Disease
Focal impaired awareness seizure, Typical absence seizure, Tremor, Exaggerated startle response, ... ORPHA:845
D-Glyceric Aciduria
Bradycardia OMIM:220120
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Status epilepticus, Focal-onset seizure, Seizure, Natal tooth, Micrognathia OMIM:617802
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Tooth agenesis, Multiple unerupted teeth, Micrognathia ORPHA:2645
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580