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Gene: Kdm1a MGI:1196256

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Gene Summary

Name:
lysine (K)-specific demethylase 1A
Synonyms:
Kdm1,  Aof2,  LSD1,  1810043O07Rik

Order Alleles

IMPC Data Collections

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
increased basophil cell number Kdm1atm1(NCOM)Mfgc HET Early adult 1.11×10-26
decreased grip strength Kdm1atm1(NCOM)Mfgc HET Early adult 9.25×10-08
preweaning lethality, complete penetrance Kdm1atm1(NCOM)Mfgc HOM   Early adult 0.00
small heart Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
increased eosinophil cell number Kdm1atm1(NCOM)Mfgc HET Early adult 2.02×10-15
small lung Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
small liver Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
decreased locomotor activity Kdm1atm1(NCOM)Mfgc HET   Early adult 4.49×10-06
small kidney Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
small spleen Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
increased mean platelet volume Kdm1atm1(NCOM)Mfgc HET Early adult 3.96×10-06

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Kdm1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kdm1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Lower limb hypertonia OMIM:616728

The table below shows human diseases predicted to be associated to Kdm1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly... OMIM:615369
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139431
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Bilateral tonic-clonic s... OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Febrile seizure (within t... OMIM:615744
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-... ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Interict... ORPHA:725
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Focal-onset seizure, Bilateral ton... OMIM:117100
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizur... OMIM:615400
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Multifocal epileptiform discharges, Myoclonic seizure, Myoclonic absenc... OMIM:618596
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Enhancement of the C-reflex, Bilateral tonic-clonic seizure, Giant somatosen... OMIM:613608
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Tonic seizure, Atypical ... OMIM:617771
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure... OMIM:615006
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence ... OMIM:616346
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic absence s... OMIM:619000
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral... OMIM:618141
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Absence seizure with eyelid myo... OMIM:618587
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with spike-wave complexes... ORPHA:79137
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopeni... OMIM:131400
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Atypical ... OMIM:613855
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl... OMIM:617113
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-cl... ORPHA:2382
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonic status epilepti... OMIM:614018
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, EEG with focal sharp waves, Bilateral tonic-clonic seizure with foc... ORPHA:163721
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, S... OMIM:619157
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, EEG with generalized epileptiform d... OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure... OMIM:266100
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Focal motor seizure, ... OMIM:617665
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wave complexes, ... OMIM:620540
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Focal sensory seizure, Infantile spasms, Generalized-... OMIM:602066
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, EEG ... ORPHA:36387
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocloni... OMIM:617389
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Gen... OMIM:616421
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Developmental And Epileptic Encephalopathy 59
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic sei... OMIM:617904
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Myoclonic seizure, Focal impaired awaren... OMIM:617929
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Focal motor seizure, Seizure, Inf... ORPHA:599373
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Bilateral tonic-clo... ORPHA:1945
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with generalized epilepti... ORPHA:35878
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Hypsarrhythmia, Focal motor seizure, Seizure, Bilateral tonic-clonic seizure, To... OMIM:617711
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic... OMIM:617836
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Myocl... OMIM:616139
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Pyridoxine-Dependent Epilepsy
Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Hypsarrhythmia, Seizure, Focal awa... ORPHA:3006
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:608636
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-c... OMIM:611726
Dravet Syndrome
Epilepsia partialis continua, Generalized clonic seizure, Focal-onset seizure, Generalized myoclo... ORPHA:33069
Immunodeficiency 32B
Hepatomegaly, Anemia, Bronchiectasis, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly,... OMIM:226990
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Tonic seizure, Bilateral tonic-clonic seizure, Focal clo... ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atoni... OMIM:617810
Immunodeficiency 88
Eosinophilia OMIM:619630
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra... ORPHA:182050
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality ORPHA:1361
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Convulsive... OMIM:617106
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Atonic... OMIM:620145
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Unilateral Focal Polymicrogyria
Simple febrile seizure, EEG with parietal focal spikes, Focal motor seizure, Seizure, EEG with ce... ORPHA:268947
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:615779
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-onset seizure, ... ORPHA:1949
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Focal EEG discharges with secondary generalization, Photosensitive myocl... ORPHA:263516
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Recu... OMIM:615387
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypsarrhythmia, Focal emotional seizure with laughing, Bilateral tonic-clonic se... ORPHA:293181
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure with gener... ORPHA:101070
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Bilateral t... OMIM:607876
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Yoon-Bellen Neurodevelopmental Syndrome
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Status epilepticus, Generalized... OMIM:619701
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Generalized tonic seizure, Hypsarrhythmia, Infantile spa... ORPHA:411986
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, EEG with spike-wave complexes, Typical absenc... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, EEG with focal spikes, Seizure, Infantile spasms, Focal ... ORPHA:485350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality, Focal impaired awar... OMIM:613970
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Stat... ORPHA:330050
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ... OMIM:615859
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Experiential epileptic aura, Seizure, Focal impaired ... ORPHA:31709
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Recurrent lower respiratory tract infections, Lymph... ORPHA:169154
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Myocardial eosinophilic infiltration, Abnormal mor... ORPHA:75566
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Immunodeficiency 11B With Atopic Dermatitis
Bronchiectasis, Eosinophilia, Pneumonia OMIM:617638
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal impaired awareness sei... OMIM:301058
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Abnormally low T cell receptor excision circle level, B lymphocytopenia, Lymphopeni... OMIM:602450
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilia, Membranous... OMIM:618999
Spinocerebellar Ataxia, Autosomal Recessive 12
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614322
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona... OMIM:618394
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent pneumonia, Splenomegaly, E... OMIM:616651
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Multifocal epileptiform discharges, EEG with focal slow activity, Bilateral tonic-clonic... ORPHA:209370
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
New-Onset Refractory Status Epilepticus
Status epilepticus without prominent motor symptoms, EEG with spike-wave complexes, Seizure preci... ORPHA:363558
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, EEG with multifocal slow activity, Bilateral tonic-clonic s... ORPHA:289266
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Lissencephaly 3
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure, EEG ... OMIM:617290
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait OMIM:618092
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Bilate... OMIM:612164
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Focal-onset seizure OMIM:618760
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seiz... OMIM:618012
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Generalized tonic seizure, Hypsarrhythmia, Focal t... OMIM:617105
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Bronchiectasis, Eosinophilia, Recurrent respiratory infections OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Recurrent pneumonia, Hepatosplenomegaly, Lymphopeni... ORPHA:169160
Peho-Like Syndrome
Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Focal impaired awareness seizure OMIM:616521
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Tonic seizure, Status epilep... OMIM:617166
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent pneumonia, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Seizure, EEG with focal epileptiform disch... ORPHA:98795
Alveolar Echinococcosis
Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal spleen morpholog... ORPHA:284
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myocl... OMIM:618497
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Sterile abscess, Pulmonic stenosis, Recurrent pneumonia, Recurrent sinusiti... OMIM:618282
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617600
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Camptodactyly, Death in infancy, Neonatal death, Patent... OMIM:608104
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Generalized-onset seizure, Febrile s... OMIM:617188
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking OMIM:253600
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopulmonary in... ORPHA:486
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Recurrent respiratory infections OMIM:620532
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Seizure, Tonic seizure, Myoclonic seizure,... OMIM:618559
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, G... OMIM:620166
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Continuous spike and waves during slow sleep, Focal impa... OMIM:620149
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Pulmonary fibrosis, Pn... ORPHA:1163
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Hypsarrh... ORPHA:95232
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Wells Syndrome
Eosinophilia ORPHA:901
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus... OMIM:615415
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def... OMIM:222470
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
EEG abnormality, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Abnormal pe... ORPHA:457205
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Neurodevelopmental Disorder With Involuntary Movements
Multifocal epileptiform discharges, Focal impaired awareness seizure, Infantile spasms, Bilateral... OMIM:617493
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Hypereosinophilia ORPHA:2902
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... OMIM:618067
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Interstitial ca... OMIM:613426
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypsarrhythmia, EEG with focal sharp slow waves, Bilateral tonic-clonic seizure, Tonic seizure, M... OMIM:619983
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Dk1-Cdg
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, M... ORPHA:91131
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ... ORPHA:99095
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Cerebral Creatine Deficiency Syndrome 2
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:612736
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Mu... ORPHA:3032
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia OMIM:610163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Sclerosing cholangitis, Cutaneous abscess, Recurrent pneumonia, Recurrent... OMIM:243700
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Recurrent respiratory infections ORPHA:90045
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Pulmonic stenosis, Increased mean platelet volume, Hydron... OMIM:616737
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of... OMIM:102700
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
EEG with focal spikes, Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:300607
Periventricular Nodular Heterotopia 7
Hypsarrhythmia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure OMIM:617201
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s... OMIM:617237
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... ORPHA:293173
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce... ORPHA:2686
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the a... OMIM:618917
Hyperprolinemia Type 2
Seizure, Generalized-onset seizure, Early onset absence seizures, Atonic seizure, EEG with genera... ORPHA:79101
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms ORPHA:467166
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic... OMIM:614980
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure ORPHA:544254
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly OMIM:618804
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti... OMIM:619827
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Myoclonic seizure, Atonic seizure, Myoclonus, Generalized non-motor (absence... OMIM:616973
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hematuria, Gait disturbance, Hypertrophic cardiomyopathy, Abnormal pericardium morph... ORPHA:183
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Immunodeficiency 23
Bronchiectasis, Ataxia, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Recu... OMIM:615816
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Atrial septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defect, Ve... OMIM:600987
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Multifocal epileptifor... ORPHA:488613
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, ... ORPHA:457351
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Mitral valve prolapse, Small hypothenar eminence, Small thenar eminence, Joint con... OMIM:211960
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia OMIM:613839
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly OMIM:617388
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, EEG with temporal focal spikes ORPHA:163985
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Ataxia, Proteinuria, Thrombocytopenia, Macrothrombocytopenia,... OMIM:603585
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Abno... ORPHA:363444
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Hydronephrosis, Thrombocytopenia... OMIM:611209
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure OMIM:617933
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:529665
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclon... OMIM:600721
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure OMIM:620453
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Death in childhood, Ebstein anomaly of the tricuspid valve, Death in infancy OMIM:619492
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hypertrophy, Ventricular sep... OMIM:108900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin... ORPHA:3260
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macroscopic hematuria, Macrothrombocyto... ORPHA:274
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Foxg1 Syndrome
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:561854
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Pitt-Hopkins-Like Syndrome 1
Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:2868
Coenzyme Q10 Deficiency, Primary, 3
Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset OMIM:614652
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Mucoepithelial Dysplasia, Hereditary
Hematuria, Recurrent pneumonia, Pneumonia, Eosinophilia, Cor pulmonale, Fibrocystic lung disease OMIM:158310
Canavan Disease
Hypsarrhythmia, Epileptic spasm, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure OMIM:271900
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Abnormality of the lymphatic system, Total anomalous pulm... ORPHA:487796
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:615398
Hypoplastic Left Heart Syndrome
Mitral stenosis, Patent ductus arteriosus, Atrial septal defect, Mitral atresia, Hypoplastic left... ORPHA:2248
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Multiple renal cysts, Tetralogy of Fallot, Nephropathy ORPHA:3033
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Pelvic kidney, Truncus a... OMIM:601186
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure OMIM:616034
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, Fl... OMIM:618651
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Lymphatic Filariasis
Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ... ORPHA:2035
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:464282
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Infantile... OMIM:300912
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Netherton Syndrome
Hypereosinophilia, Recurrent respiratory infections OMIM:256500
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:619911
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em... ORPHA:79351
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent... OMIM:158170
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis ORPHA:449400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Recurrent respiratory infections, Atelectasis ORPHA:2314
Sulfite Oxidase Deficiency, Isolated
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure OMIM:272300
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Pyruvate Dehydrogenase E1-Alpha Deficiency
Hypsarrhythmia, EEG with focal spikes, EEG with focal sharp waves, Seizure, Infantile spasms, Bil... ORPHA:79243
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Tonic seizure OMIM:300260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615716
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, EEG abnormality, Febrile seizure (within the age range o... OMIM:617798
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal defect, Perime... OMIM:620662
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Nephrolithiasis, ... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect, Skeletal muscle atrophy,... OMIM:608779
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Infantile spasms, Seizure, EEG with focal epileptiform discharges, Interictal EEG abnormality, Bi... ORPHA:544503
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awar... OMIM:618325
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia OMIM:617425
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Lethargy ORPHA:199299
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Bilateral tonic-clonic seizure ORPHA:275864
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, T lymphocytopenia,... ORPHA:508533
Coccidioidomycosis
Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural empyema, Granuloma, Pericardi... ORPHA:228123
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Infantile spasms, Seizure, Bilateral tonic-clonic seizur... OMIM:620224
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic seizure, Interictal EEG abnormality, Myoclonic spasms ORPHA:79264
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Recurrent pneumonia, Thrombocytop... OMIM:617718
Classic Multiminicore Myopathy
Muscular dystrophy, Weakness of facial musculature, Generalized amyotrophy, Muscle fiber atrophy,... ORPHA:324604
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Alfadhel Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:620655
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Sandhoff Disease, Infantile Form
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:309155
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Myoc... ORPHA:254881
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Igg4-Related Pachymeningitis
Pancreatitis, Lymphadenitis, Abnormal lung morphology, Nephritis, Eosinophilia ORPHA:449427
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure OMIM:612337
Congenital Heart Defects, Multiple Types, 9
Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonic stenosis, Single v... OMIM:620294
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Angelman Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Status epilepticus, Atypical absence se... ORPHA:72
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Aortic valve stenosis, Mitral valve prolapse ORPHA:228410
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Leukocytosis,... OMIM:274000
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia, Ataxia, Inability to walk OMIM:618174
Dpm1-Cdg
Generalized myoclonic seizure, Seizure, Early onset absence seizures, Atonic seizure, Generalized... ORPHA:79322
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:619725
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion contracture OMIM:606631
D-Glyceric Aciduria
Focal clonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status ... OMIM:220120
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect, Macroglossia OMIM:301040
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:96147
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Lacticaciduria OMIM:619003
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Stormorken Syndrome
Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Myoclonus OMIM:616672
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure ORPHA:453510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:369837
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Seizure OMIM:617360
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Developmental And Epileptic Encephalopathy 49
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, EEG abnormality, Clo... OMIM:617281
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Faci... ORPHA:508498
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Renal insufficiency, Lymphadenopathy, Eosinophilia, Re... ORPHA:449432
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... ORPHA:2847
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Seizure, Bilateral tonic-... ORPHA:480864
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Cardiac Diverticulum
Aortic valve stenosis, Abnormal heart morphology, Mitral valve prolapse, Left ventricular hypertr... ORPHA:1686
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Mesenteric cyst, Hypospadias, Patent foramen ovale,... OMIM:618316
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Cardiac total anomalous pulmonary venous co... OMIM:608978
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Interictal epileptiform activity, EEG with focal spikes, Seizure, EEG with g... ORPHA:163681
Mirage Syndrome
Anemia, Hypospadias, Aspiration pneumonia, Microphallus, Hypoplastic spleen, Leukopenia, Thromboc... OMIM:617053
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Infantile spasms, Generalized-onset seizu... OMIM:300672
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Partial atrioventricular canal defect, Hypoplast... OMIM:615996
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Grange Syndrome
Ventricular septal defect ORPHA:79094
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy OMIM:616733
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Status epilepticus, Generalized-onset seizure ORPHA:564178
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:618381
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Tonne-Kalscheuer Syndrome
Hypospadias, Broad-based gait, Abnormal heart morphology, Pulmonary hypoplasia, Micropenis OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Periportal fibrosis, Polycystic kidney dysplasia, Abnormal heart morpholo... OMIM:263210
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Generalized-onset seizure, Bilateral toni... OMIM:614231
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti... OMIM:620504
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Atrial septal defect, Tricuspid atresia, Dextrocardia, Pulmonary... ORPHA:185
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Neoplasm of the lung, Abnormal lung morphology, Eosin... ORPHA:449563
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Cardiomegaly, Torticollis, Pat... OMIM:300855
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Clonic seizure... OMIM:619580
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Infantile spasms, Generalized-onset ... ORPHA:268940
Gaucher Disease, Perinatal Lethal
Akinesia, Anemia, Hepatomegaly, Pulmonary hypoplasia, Splenomegaly, Hepatosplenomegaly, Thrombocy... OMIM:608013
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Abnormality of visual evoked potentials, Seizure, Focal-... ORPHA:258
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Polysplenia, Pulmonary hypopla... OMIM:200995
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Focal e... ORPHA:404454
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Facial hypotonia OMIM:615539
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber necrosis, Fa... OMIM:258450
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Congenital finger... OMIM:121050
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Absent g... ORPHA:1335
Incontinentia Pigmenti
Eosinophilia, Gait disturbance ORPHA:464
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Meckel Syndrome, Type 6
Renal cyst, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladd... OMIM:612284
Cardiac-Urogenital Syndrome
Atrial septal defect, Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Mesocardia, Dextr... OMIM:618280
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:364028
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Hadziselimovic Syndrome
Ventricular septal defect, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:612946
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Hermansky-Pudlak Syndrome 10
EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Mitral valve prolapse ORPHA:230839
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonic stenosis, Pulmonary hypoplasia, Splenomegaly, Atrial septal defect, Ventri... OMIM:608149
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Ureteral stenosis, Secundum atrial septal defect, Pulmonary hypoplasi... ORPHA:2257
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of r... OMIM:142900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pleural empyema, Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent upper respira... OMIM:147060
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse ORPHA:98
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Patent foramen ovale, Flexion contracture, Mitral valve... OMIM:180849
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Infantile ... OMIM:618733
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Tay-Sachs Disease
Typical absence seizure, Seizure, Focal impaired awareness seizure, Myoclonus ORPHA:845
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Pleural effusion, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonary hypoplasia,... OMIM:616897
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Proximal amyotrophy, Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Serkal Syndrome
Hypospadias, Abnormal penis morphology, Pulmonic stenosis, Pulmonary hypoplasia, Ventricular sept... ORPHA:139466
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Ventricular septal defect, Anomalous pulmonary venous ret... ORPHA:860
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Bilateral tonic-clonic seizure ORPHA:423479
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Cardiomyopathy OMIM:249270
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Generalized-onset seizure, Tonic seizure, B... OMIM:620024
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, EEG with burst suppression, Seizure, Bilateral tonic-clonic seizure, Status ... OMIM:618143
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with spike-wave complexes, EEG with polyspike wave complexes, Seizure, Bilateral tonic-clonic... ORPHA:247262
Congenital Contractural Arachnodactyly
Congenital contracture, Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Arth... ORPHA:115
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:617193
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl... ORPHA:79241
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral... OMIM:616564
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Pericarditis, Camptodactyly of finger, Mitral valve prolapse ORPHA:2848
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mitral valve prolapse ORPHA:137834
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Hyposegmentation of neutrophil nuclei ORPHA:250999
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly, Lethargy OMIM:620306
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv... ORPHA:3384
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic stenosis, Mitral valve prolapse,... ORPHA:3071
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Japanese Encephalitis
Interictal epileptiform activity, Focal motor seizure, Bilateral tonic-clonic seizure, Status epi... ORPHA:79139
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Pulmonary hypoplasia, Renal cyst OMIM:236500
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni... OMIM:619702
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa... OMIM:617022
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615474
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve ... OMIM:612863
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:284169
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia, Hep... OMIM:614091
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Congenital finger flexion contractures, Achilles tendon contracture, H... OMIM:620545
Oligomeganephronia
Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary pyramid morph... ORPHA:2260
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s... ORPHA:261183
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec... OMIM:615355
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Emphysema, Atelectasis, Accessory spleen, Patent foramen ovale, Hyp... OMIM:613177
Woods Syndrome
Ventricular septal defect OMIM:615236
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Micropenis OMIM:241800
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Akinesia, Pulmonary hypoplasia OMIM:253290
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Recurrent respiratory infections, Nephronophthisis, Pulmonary hypopl... OMIM:184260
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Contracture of the distal interphalangeal joint of the ... ORPHA:83617
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co... OMIM:214100
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Patent foramen ovale, Renal hypoplasia, Pulmonary... OMIM:269860
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Horseshoe kidney, Cystic renal ... OMIM:608022
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect OMIM:618142
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Do... ORPHA:371428
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Tendon thickening, Tendon rupture, Mitral valve prolapse, Left v... ORPHA:230851
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pancreatic cysts, Hepatic fibrosis, Renal cyst, Polycystic liver disease, Bile duct pro... OMIM:208500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Ataxia, Lymphopenia, Bronchiectasis, Interstitial emphysema, Dysmetria OMIM:619708
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Scapular winging, Hypertrophic ca... ORPHA:500
Marden-Walker Syndrome
Dextrocardia, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia, Micropenis OMIM:248700
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... ORPHA:210122
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:613870
Oculofaciocardiodental Syndrome
Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Mitral valve prolapse, Pa... ORPHA:2712
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Bilateral tonic-clonic seizure, Myoclonus OMIM:620451
Viss Syndrome
Pneumothorax, Atrial septal defect, Pulmonary artery aneurysm, Emphysema, Patent foramen ovale, C... OMIM:619472
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi... ORPHA:95430
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:447997
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Hypospadias, Pulmonary artery stenosis, Congenital pulmonary airway malf... OMIM:611812
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Right atrial enlargement ORPHA:555877
Cohen Syndrome
Mitral valve prolapse, Facial hypotonia OMIM:216550
Ectopia Lentis 1, Isolated, Autosomal Dominant
Mitral valve prolapse OMIM:129600
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Von Willebrand Disease, Type 1
Aortic valve stenosis, Mitral valve prolapse OMIM:193400
Pagod Syndrome
Situs inversus totalis, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Abnormality of the spl... ORPHA:991
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:616866
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Holt-Oram Syndrome
Atrioventricular canal defect, Anomalous pulmonary venous return, Atrial septal defect, Ventricul... ORPHA:392
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Intellectual Developmental Disorder, Autosomal Dominant 54
Focal impaired awareness seizure, Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:617799
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial septal defect, Ventricular septal defect OMIM:601927
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hypoplasia of the musculature, Elbow flexion contracture, Scapular win... OMIM:305620
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Ureteral agenesis, Pulmonary hypoplasia, Hydronephrosis ORPHA:2437
Distal Triplication 15Q
Polycystic kidney dysplasia, Abnormal heart morphology, Hydronephrosis, Pulmonary hypoplasia, Atr... ORPHA:314588
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus, EEG abnormality ORPHA:550
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... OMIM:607459
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Pulmonary hypoplasia, Hepatic agenesi... ORPHA:1692
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
Meckel Syndrome 14
Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia, Hepatic fibrosis, Single ventricle OMIM:619879
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Heterotaxy, Visceral, 1, X-Linked
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Patent ductus a... OMIM:306955
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion contracture, Campt... OMIM:602782
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis,... ORPHA:79328
Noonan Syndrome 2
Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,... OMIM:605275
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:620066
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Coronary artery fistula, Patent foramen ovale, Ventricular septal defect, P... OMIM:619343
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range... OMIM:620330
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Pulmonary... ORPHA:3027
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Tarp Syndrome
Broad-based gait, Hydronephrosis, Pulmonary hypoplasia, Tetralogy of Fallot, Atrial septal defect... ORPHA:2886
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Overriding aorta, Atrial ... ORPHA:477817
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re... ORPHA:980
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Pulmonic sten... OMIM:619657
D-Bifunctional Protein Deficiency
Seizure, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure OMIM:261515
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:2636
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Tonic seizure OMIM:615873
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... OMIM:620519
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Fetal Akinesia Deformation Sequence
Akinesia, Pulmonary hypoplasia ORPHA:994
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure ORPHA:352665
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:255210
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Inability to walk, Pancreatitis, Splenic cyst, Patent foramen ovale, Pulmonary arter... OMIM:620371
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Anomalous origin of left pulmonary artery from ascending aorta, Transpositi... ORPHA:99050
22Q11.2 Duplication Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ... ORPHA:1727
Noonan Syndrome 14
Pulmonic stenosis, Hypertrophic cardiomyopathy, Scapular winging, Mitral valve prolapse OMIM:619745
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventri... ORPHA:3426
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr... OMIM:245600
Alternating Hemiplegia Of Childhood
Seizure, Focal motor seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:2131
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Renal Agenesis
Unilateral renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Proteinuria, Ventricular sept... ORPHA:411709
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Micropenis, Hypospadias ORPHA:171430
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, E... OMIM:301044
Pseudoxanthoma Elasticum
Mitral stenosis, Restrictive cardiomyopathy, Mitral valve prolapse OMIM:264800
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect OMIM:301039
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Pulmonary hypop... OMIM:614080
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Atelosteogenesis Type I
Pulmonary hypoplasia, Multiple renal cysts, Abnormal pancreatic duct morphology ORPHA:1190
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Joubert Syndrome 21
Pulmonary hypoplasia, Ataxia, Splenomegaly, Renal cyst OMIM:615636
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Pulmonary hypoplasia, Tetralogy of Fallot, Mu... ORPHA:2059
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle weakness, Muscle fiber atrop... ORPHA:1900
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Transketolase Deficiency
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:488618
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Proteinuria OMIM:191830
Fg Syndrome Type 1
Atrial septal defect, Progressive flexion contractures, Mitral valve prolapse ORPHA:93932
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Pulmonic stenosis, Pulmonary hypoplasia, Left ventricular... OMIM:619148
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:603387
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Focal-onset seizure, Seizure, Increased theta frequency activity in EEG, Bilateral tonic-clonic s... ORPHA:459070
Cocaine Intoxication
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence status epilepticus... ORPHA:90068
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Polycystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasi... OMIM:263520
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Pulmonary hypoplasia, Gait disturbance, Hypoplasia of penis ORPHA:2990
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Atonic seizure, Typical absence seizure, Focal-onset seizure OMIM:617157
Congenital Myopathy 22B, Severe Fetal
Pleural effusion, Pulmonary hypoplasia, Hepatomegaly, Waddling gait OMIM:620369
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect, Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Pulmonary hypoplasia, Respiratory tract infection, Ureteropelvi... OMIM:618975
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:208085
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Transaldolase Deficiency
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:606003
Penile Agenesis
Atrial septal defect, Hydroureter, Bilateral lung agenesis, Absent penis, Hydronephrosis, Pulmona... ORPHA:49
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Renal Tubular Dysgenesis
Anuria, Pulmonary hypoplasia OMIM:267430
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Penoscrotal hypospadi... OMIM:270400
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Mosaic Trisomy 16
Hypospadias, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypoplasia, Atrial se... ORPHA:1708
Fryns Syndrome
Ureteral duplication, Hypospadias, Chylothorax, Renal cyst, Hydronephrosis, Pulmonary hypoplasia,... OMIM:229850
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Pulmonary hypoplasia ORPHA:1865
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Meier-Gorlin Syndrome 7
Meconium peritonitis, Hypospadias, Vesicoureteral reflux, Pulmonary hypoplasia, Urethral strictur... OMIM:617063
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Hypospadias, Chordee, Pulmonary hypoplasia, Renal insuffici... ORPHA:96179
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Truncus arteriosus, Tetralogy of Fallot, Partial anomalous pulmonary venous re... OMIM:617478
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Total anomalous pulmona... OMIM:270100
Brittle Cornea Syndrome
Pulmonic stenosis, Camptodactyly, Mitral valve prolapse ORPHA:90354
Dpagt1-Cdg
Akinesia, Hepatomegaly, Inability to walk, Anemia, Elevated circulating hepatic transaminase conc... ORPHA:86309
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double... OMIM:249420
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Asplenia, Bile duct pro... OMIM:249000
Cushing Disease
Increased urinary cortisol level, Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Ventricular septal defect, Foot joint contracture, Mitral valve prolapse ORPHA:444072
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminas... ORPHA:221
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse ORPHA:758
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Greenberg Dysplasia
Abnormal lung lobation, Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Pulmona... OMIM:215140
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia, Hypospadias OMIM:313850
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Bilateral tonic-clonic seizure OMIM:252010
Enthesitis-Related Juvenile Idiopathic Arthritis
Thickened Achilles tendon, Abnormal heart morphology, Dilatation of the ventricular cavity, Mitra... ORPHA:85438
Otopalatodigital Syndrome Type 2
Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Hydronephrosis, Pulmonary hyp... ORPHA:90652
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect OMIM:619123
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Mitral valve prolapse OMIM:616914
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric... ORPHA:26793
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus ORPHA:251066
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Pancreatic adenocarcinoma, Abnormal lymph node morphology, Decreased e... ORPHA:99889
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:618775
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Wrist flexion contracture, Camptodactyly of toe, Interphalangeal joint... OMIM:259600
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Patent ductus arteriosus OMIM:104350
Aortic Arch Interruption
Transposition of the great arteries, Aortic valve atresia, Aortopulmonary window, Truncus arterio... ORPHA:2299
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mitral valve prolapse, Right atrial enlargement OMIM:620233
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot OMIM:612562
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Torticollis, Mitral valve prolapse OMIM:614816
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:2519
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... OMIM:115470
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Abnormal aortic valve morphology, Mitral valve prolapse, Aplasia/Hypopla... ORPHA:2462
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Flexion contracture, Mitral valv... ORPHA:284979
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:280000
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Complete atriov... OMIM:264480
Leopard Syndrome 1
Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Subvalvu... OMIM:151100
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Hypoplastic left heart, Double outlet right ventricle ... ORPHA:1596
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Melnick-Needles Syndrome
Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Abnormality of the gallbladder, Atrioventricular canal defect, Hypospadia... ORPHA:818
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephr... ORPHA:798
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Tetraamelia Syndrome 1
Asplenia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Urethral atresia OMIM:273395
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Acrocardiofacial Syndrome
Truncus arteriosus, Mitral stenosis, Tetralogy of Fallot, Atrial septal defect, Ventricular septa... ORPHA:2008
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, Micropenis, Complete atrioventricu... OMIM:617925
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Abnormal cardiac septum morphology, Hydronephrosis, Pulmonary hypoplas... OMIM:308050
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Double outlet right ventricle, Ventr... OMIM:615067
Shprintzen-Goldberg Craniosynostosis Syndrome
Camptodactyly, Mitral valve prolapse, Joint contracture of the hand OMIM:182212
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Pulmonary hypoplasia, Peritonitis, Megacystis, Pyelonephritis OMIM:619351
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect OMIM:616777
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Ventricul... OMIM:620025
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Abnormal mitral valve morphology, ... ORPHA:3310
Hunter-Macdonald Syndrome
Camptodactyly, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Joint cont... OMIM:611962
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Polycystic kidney dysplasia, Atrial septal defect, Micropenis OMIM:616546
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia OMIM:617107
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Spondyloocular Syndrome
Atrial septal defect, Dysplastic aortic valve, Mitral valve prolapse OMIM:605822
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Pulmonary hypoplasia, Renal cyst OMIM:616300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Mitral valve prolapse, Repeated pneumothoraces ORPHA:536467
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Camptodactyly, Mitral valve prolapse, Ventricular septal def... ORPHA:500095
Microphthalmia, Syndromic 2
Dextrocardia, Contracture of the proximal interphalangeal joint of the 2nd toe, Pulmonic stenosis... OMIM:300166
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Maternal Phenylketonuria
Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal... ORPHA:2209
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Osteogenesis Imperfecta
Abnormal endocardium morphology, Hypercalciuria, Nephrolithiasis, Gait disturbance, Loss of ambul... ORPHA:666
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia, Hypospadias, Gait disturbance OMIM:265000
Raine Syndrome
Pulmonary hypoplasia, Hydronephrosis, Hydroureter OMIM:259775
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Camptodactyly, Decreased muscle mass, Fle... OMIM:154700
Doors Syndrome
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:79500
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Pulmonary hypoplasia, ... ORPHA:536471
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy OMIM:601559
Esophageal Atresia
Bronchitis, Pulmonary hypoplasia, Tetralogy of Fallot, Recurrent respiratory infections, Ventricu... ORPHA:1199
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse ORPHA:536532
Down Syndrome
Atrioventricular canal defect, Patent foramen ovale, Ebstein anomaly of the tricuspid valve, Tetr... OMIM:190685
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Diastasis recti, Distal arthrogryposis, Mitral valve prolapse, Atrial s... OMIM:601776
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse ORPHA:730
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Costello Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Pulmonic stenosis, Achilles tendon contracture, Mi... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Mitral va... ORPHA:2556
Neurooculorenal Syndrome
Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro... OMIM:620305
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal heart valve morphol... ORPHA:289
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Seizure, Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure OMIM:614756
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart ORPHA:2473
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, Mitral valve prolapse ORPHA:369950
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Torticollis, Facial hypotonia, Mitral valve prolapse, Patent ductus art... OMIM:618371
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Pulmonary hypopl... OMIM:236700
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Achondrogenesis, Type Ia
Pulmonary hypoplasia OMIM:200600
Cutis Laxa, Autosomal Recessive, Type Iic
Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Knee flexion contracture, Atrial sept... OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Pulmonary hypoplasia, Hepat... ORPHA:96334
Mowat-Wilson Syndrome
Focal-onset seizure, EEG with spike-wave complexes, Seizure, Atypical absence seizure, Status epi... ORPHA:2152
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Pulmonary hypoplasia, Urethral atresia OMIM:271520
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Choreoacanthocytosis
Seizure, Decreased amplitude of sensory action potentials, Bilateral tonic-clonic seizure ORPHA:2388
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Abnormal heart morphology, Pulmonary hypoplasia, Abnormal thymus m... OMIM:219000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:363700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart OMIM:618748
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Seizure, Atypical absence seizure, EEG abnormality, Focal-onset seizure ORPHA:261537
Fontaine Progeroid Syndrome
Pneumothorax, Abnormal heart morphology, Pulmonary hypoplasia, Recurrent aspiration pneumonia, Le... OMIM:612289
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous... OMIM:265380
Meester-Loeys Syndrome
Joint contracture, Camptodactyly, Mitral valve prolapse OMIM:300989
Adams-Oliver Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial sept... OMIM:100300
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Bicuspid pulmonary valve, Camptodactyly, Mitral valve prolapse, Pa... OMIM:609192
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormality of the ureter OMIM:200980
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Seizure, Atypical absence seizure, EEG abnormality, Focal-onset seizure ORPHA:261552
Loeys-Dietz Syndrome 2
Patent foramen ovale, Bicuspid pulmonary valve, Camptodactyly, Mitral valve prolapse, Patent duct... OMIM:610168
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Death in early adulthood, Macroglossia, Hypertroph... ORPHA:904
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:153400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Marfan Syndrome
Tricuspid valve prolapse, Skeletal muscle atrophy, Mitral valve prolapse, Mitral valve calcification ORPHA:558
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Hypoplastic left ... OMIM:301043
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis, Pulmon... ORPHA:93271
Atypical Werner Syndrome
Calf muscle hypertrophy, Aortic valve stenosis, Skeletal muscle atrophy, Mitral valve prolapse, A... ORPHA:79474
Restrictive Dermopathy
Transposition of the great arteries, Ureteral duplication, Hypospadias, Dextrocardia, Pulmonary h... ORPHA:1662
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:2753
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Loeys-Dietz Syndrome 3
Patent ductus arteriosus, Ventricular hypertrophy, Camptodactyly, Pulmonic stenosis, Mitral valve... OMIM:613795
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Tetralogy of Fallot OMIM:600460
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Coronary artery stenosis, Pulmonic stenosis, Flexion contra... OMIM:194050
Restrictive Dermopathy 1
Atrial septal defect, Ureteral duplication, Pulmonary hypoplasia, Hypospadias OMIM:275210
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect OMIM:123700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia, Persistent cloaca ORPHA:1112
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement OMIM:619268
Ulbright-Hodes Syndrome
Pneumothorax, Polycystic kidney dysplasia, Renal hypoplasia, Pulmonary hypoplasia, Abnormal penis... ORPHA:3404
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries, Pulmonary h... OMIM:256520
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy, Mitral valve prolapse ORPHA:828
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Pulmonary hypoplasia, Atrial septal defect, Ventric... OMIM:606170
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect OMIM:620558
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Fraser Syndrome
Abnormal lung lobation, Hypospadias, Hypoplasia of penis, Pulmonary hypoplasia, Urethral atresia ORPHA:2052
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Mitral valve prolapse ORPHA:287
Hypermobile Ehlers-Danlos Syndrome
Tendon rupture, Mitral valve prolapse, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:285
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia OMIM:208150
Pallister-Killian Syndrome
Inability to walk, Hypospadias, Hypertrophic cardiomyopathy, Renal cyst, Aortic valve stenosis, P... OMIM:601803
Alström Syndrome
Typical absence seizure ORPHA:64
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse OMIM:130050
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Ureteropelvic junction obstruction, Pulmonary hypoplasia, ... OMIM:164210
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:286
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia, Bicuspid aortic valve OMIM:309800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Lower limb hypertonia OMIM:616728

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kdm1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kdm1a.

No publications found that use IMPC mice or data for Kdm1a.

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MGI Allele Allele Type Produced
Kdm1atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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