Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Otud7aem1(IMPC)Bay HOM   Early adult 0.00
decreased heart rate Otud7aem1(IMPC)Bay HET   Early adult 6.07×10-05

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Viewing: all phenotypes
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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 Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Forepaw

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

MicroCT E18.5

Embryo reconstruction

11 Images

X-ray

XRay Images Skull Lateral Orientation

6 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
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia 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
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Generalized non-motor (absence) seizure, Torsion dystonia, Pares... ORPHA:98811
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Ataxia, Abnormality of the dentition, Delayed eruption of teeth, Gingival fi... ORPHA:2026
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Developmental And Epileptic Encephalopathy 6B
Narrow mouth, Ataxia, Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epil... OMIM:619317
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Status epilepticus, Ataxia, Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta, Multi... OMIM:615905
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Myoclonus, Myoclonic status epilepticus, Tremor, Bilateral tonic-clonic s... OMIM:614018
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Lissencephaly 10
Torticollis, Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Hypodont... OMIM:618873
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclon... ORPHA:36387
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Hemifacial Atrophy, Progressive
Dental malocclusion, Ataxia, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy, Se... OMIM:141300
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, Myoclonic seizure, Generalized no... OMIM:617665
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Fatigable weakness, Delayed eruption of teeth, Mandibular prognat... ORPHA:2325
Liang-Wang Syndrome
Status epilepticus, Wide mouth, Gingival overgrowth, Ataxia, Macrodontia of permanent maxillary c... OMIM:618729
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Developmental And Epileptic Encephalopathy 67
Athetosis, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure OMIM:618141
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Neurodevelopmental Disorder With Hearing Loss And Spasticity
High palate, Thick upper lip vermilion, Micrognathia, Infantile spasms, Myoclonic seizure, Bilate... OMIM:619616
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
4H Leukodystrophy
Ataxia, Hypodontia, Dysmetria, Abnormality of the dentition, Dysdiadochokinesis, Delayed eruption... ORPHA:289494
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonic absence ... OMIM:617836
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, M... OMIM:615744
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia... OMIM:617810
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Ramon Syndrome
Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Seizure, Abno... ORPHA:3019
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Limb ataxia, F... OMIM:617350
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Hypodontia, Dysmetria, Impaired vibration sensation in the lower limbs, Intention tremor,... ORPHA:447896
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
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
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Wide mouth, Narrow mouth, Ataxia, Thin vermilion border, Tremor, Generalized-onset s... ORPHA:544254
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Dravet Syndrome
Atypical absence seizure, Action tremor, Focal hemiclonic seizure, Focal impaired awareness seizu... ORPHA:33069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tented upper lip vermilion, Gen... OMIM:619854
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Myoclonic-Astatic Epilepsy
Wide mouth, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Ataxia, Genera... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
48,Xxyy Syndrome
Ataxia, Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Tremor, B... ORPHA:10
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
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
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Sulfite Oxidase Deficiency, Isolated
Ataxia, Delayed eruption of teeth, Choreoathetosis, Bilateral tonic-clonic seizure, Generalized d... OMIM:272300
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... OMIM:616281
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Microretrognathia, Generalized non-motor (absence) seizure OMIM:615553
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Atonic seizure, Focal impaired awareness seizure, Everted lower lip ver... ORPHA:411986
Growth Hormone Insensitivity Syndrome
Failure to thrive, Delayed eruption of teeth, Truncal obesity, Everted lower lip vermilion ORPHA:181393
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Thick lower lip ver... OMIM:619000
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Long philtrum, Delayed eruption of teeth, Bilateral tonic-clonic seizu... ORPHA:777
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Dysmetria, Intention tremor, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:618170
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypodontia, Dysmetria, Intention tremor, Oligodontia, Dysdiadochokinesis, Delayed eruptio... OMIM:614381
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Ataxia, Macroglossia, Long philtrum, Delayed eruption of teeth, Sei... OMIM:616354
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Genera... OMIM:271980
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Ataxia, Delayed eruption of teeth, Carious teeth, Tremor, Yellow-brown discol... OMIM:619229
Intellectual Developmental Disorder, Autosomal Recessive 41
High palate, Retrognathia, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized... OMIM:615637
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Obesity, Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure OMIM:618242
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Pain insensitivity, Long philtrum, Delayed eruption of teeth, Seizure, D... OMIM:618825
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
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Cho... ORPHA:485350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Typical absence seizure, Cleft palate, Abnormality of the dentition, Micrognathia, L... ORPHA:576283
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
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod... OMIM:618342
Harel-Yoon Syndrome
Ataxia, Micrognathia, Generalized non-motor (absence) seizure, Mandibular prognathia, Dystonia OMIM:617183
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index, Delayed eruption of teeth, Macroglossia OMIM:614450
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Delayed eruption of teeth, Broad alveolar ridges, Abno... ORPHA:2863
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Intellectual Developmental Disorder, X-Linked 30
High palate, Thick upper lip vermilion, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:300558
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Gingival overgrowth, Ataxia, Focal impaired awareness seizure, Tonic se... OMIM:619428
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Thin vermilion border, Micrognathia, Long philtrum,... OMIM:214150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Infantile spasms, Delayed eruption of teeth, Widely spaced teeth, Seizure, Thick lower lip vermilion OMIM:619797
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Nicolaides-Baraitser Syndrome
Status epilepticus, Wide mouth, High, narrow palate, Everted lower lip vermilion, Thin vermilion ... ORPHA:3051
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia... ORPHA:884
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Coffin-Siris Syndrome 2
High palate, Wide mouth, Cleft palate, Macroglossia, Short philtrum, Long philtrum, Delayed erupt... OMIM:614607
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Hall-Riggs Syndrome
Wide mouth, Failure to thrive, Delayed eruption of teeth, Downturned corners of mouth, Seizure, T... ORPHA:2107
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
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
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Chorea, Bilateral ... OMIM:617600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Micrognathia, Microdontia, Bilateral tonic-clonic seizure, Open mouth, Delayed erup... OMIM:619356
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Temple-Baraitser Syndrome
High palate, Wide mouth, Gingival overgrowth, Malar flattening, Everted lower lip vermilion, Long... ORPHA:420561
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Status epilepticus, Narrow mouth, Decreased body weight, Ataxia, Pain insensitivity,... OMIM:300260
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv... OMIM:264475
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Delayed eruption of teeth OMIM:612463
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Truncal obesity, Microdontia ORPHA:633
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ... OMIM:257850
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Illum Syndrome
Bradycardia OMIM:208155
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Coffin-Siris Syndrome 3
Wide mouth, Delayed eruption of permanent teeth, Macroglossia, Seizure OMIM:614608
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Short philtrum, Delayed eruption of tee... ORPHA:137834
Chromosome Xp11.23-P11.22 Duplication Syndrome
Widely-spaced incisors, Thin vermilion border, Short philtrum, Generalized non-motor (absence) se... OMIM:300801
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia ORPHA:1816
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... OMIM:619736
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Tremor, Seizure, ... ORPHA:96263
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... ORPHA:915
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Failure to thrive, Supernumerary tooth, High, narrow palate, Smal... ORPHA:2980
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
3P25.3 Microdeletion Syndrome
Ataxia, High, narrow palate, Cleft palate, Generalized myoclonic seizure, Micrognathia, Short phi... ORPHA:435638
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil... ORPHA:819
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Failure to thrive, Ataxia, Atonic seizure, Generalized myoclonic seizure, Ton... OMIM:300912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology, Seizure ORPHA:2238
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Wide... ORPHA:98795
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent 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
High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del... OMIM:612921
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Bifid uvula, Delayed eruption of teeth OMIM:612350
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob... ORPHA:73272
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Obesity,... OMIM:157980
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Emanuel Syndrome
High palate, Failure to thrive, Tooth malposition, Cleft palate, Micrognathia, Long philtrum, Del... ORPHA:96170
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
49,Xxxxy Syndrome
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Tremor, Seizure, ... ORPHA:96264
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... ORPHA:1327
Short Syndrome
Dental malocclusion, Hypodontia, Small for gestational age, Micrognathia, Delayed eruption of tee... OMIM:269880
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Delayed eruption of teeth, Seizure OMIM:612462
Pseudohypoparathyroidism Type 1B
Laryngeal dystonia, Myoclonic spasms, Delayed eruption of teeth, Enamel hypoplasia, Paresthesia, ... ORPHA:94089
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Gingival overgrowth, Small for gestational age, Micrognathia, Short philtrum, Delaye... OMIM:619148
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Cortical myoclonus, Atonic seizure, Generalized myoclonic seizur... ORPHA:168491
Dpm1-Cdg
U-Shaped upper lip vermilion, Failure to thrive, Atonic seizure, Early onset absence seizures, Hi... ORPHA:79322
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Abnormality of the dentition, Oligodontia, Long philtrum, Delaye... ORPHA:2712
Coffin-Lowry Syndrome
High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Delayed eruption... ORPHA:192
Hyperprolinemia Type 2
Status epilepticus, Atonic seizure, Early onset absence seizures, Distal sensory impairment, Febr... ORPHA:79101
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Developmental And Epileptic Encephalopathy 100
High palate, Typical absence seizure, Gingival overgrowth, Tonic seizure, Micrognathia, Myoclonus... OMIM:619777
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Alveolar ridge overgrowth, Status epilepticus, Gingival overgrowth, Ataxia, Myoclonus, Delayed er... OMIM:301072
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Ataxia, Hypoplasia of the primary teeth, Enamel hypoplasi... ORPHA:90322
Char Syndrome
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... ORPHA:46627
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of teeth OMIM:601812
Early Infantile Epileptic Encephalopathy
Failure to thrive, Atonic seizure, Cleft palate, Generalized tonic seizure, Myoclonus, Infantile ... ORPHA:1934
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... ORPHA:501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Delayed eruption of teeth, Seizure OMIM:103580
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Wide mouth, Micrognathia, Short philtrum, Generalized non-motor (absence) seizure, W... ORPHA:363686
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... ORPHA:1452
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Angelman Syndrome
Status epilepticus, Wide mouth, Atypical absence seizure, Atonic seizure, Ataxia, Generalized myo... ORPHA:72
Cockayne Syndrome Type 1
Anodontia, Widely spaced primary teeth, Failure to thrive, Hypoplasia of the primary teeth, Ataxi... ORPHA:90321
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Hypocalcemic seiz... OMIM:277440
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Bil... ORPHA:79351
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired awareness seizure, ... ORPHA:95232
Emanuel Syndrome
High palate, Cleft palate, Micrognathia, Long philtrum, Broad jaw, Seizure, Dental crowding, Dela... OMIM:609029
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Thin vermilion border, Short philtrum, Microdontia, Shor... OMIM:617360
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Intellectual Developmental Disorder, Autosomal Dominant 42
High palate, Status epilepticus, Failure to thrive, Atonic seizure, Focal hemiclonic seizure, Foc... OMIM:616973
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... OMIM:170390
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Downturned corners of mouth, Hypop... ORPHA:2409
Kleefstra Syndrome Due To 9Q34 Microdeletion
Status epilepticus, Failure to thrive, Macroglossia, Everted lower lip vermilion, Epileptic spasm... ORPHA:96147
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... OMIM:190350
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Hypocalcemic seizures OMIM:264700
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Failure to thrive, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Bila... OMIM:615802
Kleefstra Syndrome
Macroglossia, Everted lower lip vermilion, Malar flattening, Delayed eruption of teeth, Advanced ... ORPHA:261494
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Cachexia, Advanced er... ORPHA:1133
Intellectual Developmental Disorder, Autosomal Dominant 22
Micrognathia, Short philtrum, Generalized non-motor (absence) seizure, Seizure, Thin upper lip ve... OMIM:612337
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Helsmoortel-Van Der Aa Syndrome
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... OMIM:615873
Dysosteosclerosis
High palate, Premature loss of teeth, Micrognathia, Oligodontia, Delayed eruption of teeth, Natal... OMIM:224300
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia ORPHA:950
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Eiken Syndrome
Eruption failure, Decreased body weight, Persistence of primary teeth, Short philtrum, Oligodonti... OMIM:600002
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, General... ORPHA:395
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta OMIM:184260
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Failure to thrive, Micrognathia, Short philtrum, Myoclonus, Down... OMIM:619297
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Mandibular prognathia, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eruption of teeth, Bifid u... ORPHA:2780
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Hypodontia, Intention tremor, Micrognathia, Delayed eruption of p... OMIM:619322
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Retrognathia, Infantile spasms, Bilateral tonic-clonic seizure, Ge... ORPHA:457351
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Lingual dystonia, Atonic seizure, Action tremor, Generalized myoclonic seizure... ORPHA:404454
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Failure to thrive, Eruption failure, Abnormality of the dentition, Micrognathia, Lon... ORPHA:476126
Lead Poisoning
Somatic sensory dysfunction, Small for gestational age, Delayed eruption of teeth, Seizure ORPHA:330015
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Johanson-Blizzard Syndrome
Failure to thrive, Abnormality of the dentition, Oligodontia, Delayed eruption of teeth, Microdontia ORPHA:2315
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Failure to thrive, Cleft palate, Micrognathia, Infantile spasms, Delay... OMIM:247200
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Narrow palate, Malar flattening, Retrognathia, Oligodontia, De... OMIM:235510
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Atonic seizure, Focal impaired awareness seizure, Small for gestational age, Widely space... OMIM:617799
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Failure to thrive, Myoclonus, Exaggerated startle response OMIM:618201
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Narrow palate, Micrognathia, Multiple unerupted teeth, Abnormal palate morphology... ORPHA:2063
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Hypodontia, Small for gestational age, Delayed eruption of teeth, Hypoplasia... OMIM:101800
Gapo Syndrome
Everted lower lip vermilion, Micrognathia, Long philtrum, Delayed eruption of teeth, Abnormal pal... ORPHA:2067
Coffin-Siris Syndrome 9
High palate, Everted lower lip vermilion, Short philtrum, Delayed eruption of teeth, Open mouth, ... OMIM:615866
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, High, narrow palate, Malar flattening, Generalized myoclonic seizure, Ge... ORPHA:369837
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Narrow mouth, High, narrow palate, Macroglossia, Micrognathia, Delayed eruptio... ORPHA:369950
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Glossopharyngeal Neuralgia
Jaw claudication, Bradycardia, Syncope ORPHA:221098
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth, Small for gestational age OMIM:262190
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Hypocalcemic seizures ORPHA:289157
Mucopolysaccharidosis, Type Ii
Macroglossia, Delayed eruption of teeth, Widely spaced teeth, Seizure, Thick lower lip vermilion OMIM:309900
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Small for gestational age, Abnormality of... ORPHA:2909
Melnick-Needles Syndrome
Micrognathia, Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition ORPHA:2484
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
3M Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve... ORPHA:2616
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Osteoglosphonic Dysplasia
Micrognathia, Tooth agenesis, Failure to thrive in infancy, Multiple unerupted teeth ORPHA:2645
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Persistence of primary teeth, Cleft palate, Delayed eruption of... OMIM:305620
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
D-Glyceric Aciduria
Bradycardia OMIM:220120
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
De Barsy Syndrome
High palate, Failure to thrive, Narrow mouth, Progressive cerebellar ataxia, Delayed eruption of ... ORPHA:2962
Spondyloenchondrodysplasia
Dental malocclusion, Delayed eruption of teeth, Chorea, Seizure ORPHA:1855
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth... OMIM:607812
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Oral cleft, Seizure, Abnormality of dent... ORPHA:568
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Seizure OMIM:617237
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Small for gestational age, Micrognathia, Agenesis of permanent ... OMIM:268400
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Status epilepticus, Micrognathia, Natal tooth, Focal-onset seizure, Seizure OMIM:617802
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Autosomal Dominant Hyper-Ige Syndrome
Abnormality of the dentition, Gingivitis, Delayed eruption of teeth, Cleft palate ORPHA:2314
Tay-Sachs Disease
Typical absence seizure, Focal impaired awareness seizure, Laryngeal dystonia, Exaggerated startl... ORPHA:845
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Myoclonic spasms, Delayed eruption of teeth, Enamel hypoplasia, Paresthesia, ... ORPHA:79444
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Ataxia, Exaggerated startle response, Tented upper lip vermilion, Incisor macrodonti... ORPHA:438216
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Mandibular p... OMIM:200990
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Ellis Van Creveld Syndrome
Failure to thrive, Hypodontia, Thin vermilion border, Abnormality of the dentition, Delayed erupt... ORPHA:289
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... OMIM:211380
Amelogenesis Imperfecta, Type Ig
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Barber-Say Syndrome
High palate, Wide mouth, Dental malocclusion, Gingival overgrowth, Velopharyngeal insufficiency, ... OMIM:209885
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Macroglossia, Protruding tongue, Generalized non-motor (absence) seizure, ... ORPHA:258
Genitopatellar Syndrome
Micrognathia, Long philtrum, Delayed eruption of teeth, Seizure ORPHA:85201
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Open mouth, Ma... ORPHA:534