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Gene: Kdm1a MGI:1196256

Gene Summary

Name:

lysine (K)-specific demethylase 1A

Synonyms:

Kdm1, Aof2, LSD1, 1810043O07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased grip strength	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	9.25×10^-08
preweaning lethality, complete penetrance	Kdm1a^{tm1(NCOM)Mfgc}	HOM	Early adult	0.00
increased eosinophil cell number	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	2.02×10^-15
small lung	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	0.00
decreased locomotor activity	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	4.49×10^-06
small heart	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	0.00
increased basophil cell number	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	1.11×10^-26
small spleen	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	0.00
small liver	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	0.00
increased mean platelet volume	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	3.96×10^-06
small kidney	Kdm1a^{tm1(NCOM)Mfgc}	HET	Early adult	0.00

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.

Human diseases associated with Kdm1a (2 diseases)
Human diseases predicted to be associated with Kdm1a (1304 diseases)

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	Matching phenotypes	Source
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ...	OMIM:254770
Epilepsy, Familial Temporal Lobe, 5	Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal...	OMIM:614417
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg...	OMIM:619964
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s...	OMIM:601068
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ...	OMIM:615369
Epilepsy, Childhood Absence, Susceptibility To, 1	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:600131
Febrile Seizures, Familial, 8	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:607681
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp...	ORPHA:139431
Juvenile Absence Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen...	ORPHA:1941
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike...	OMIM:615127
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo...	OMIM:615744
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:254800
Juvenile Myoclonic Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure...	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Typical absence seizure, Gener...	OMIM:607682
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-...	ORPHA:725
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a...	OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni...	OMIM:618596
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Centralopathic Epilepsy	Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi...	OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren...	OMIM:615400
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph...	OMIM:613608
Cortical Malformations, Occipital	EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse...	OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S...	OMIM:619970
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my...	OMIM:617771
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w...	ORPHA:2382
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia...	OMIM:615006
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti...	OMIM:619000
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon...	OMIM:616409
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs...	OMIM:617113
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia	OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ...	OMIM:618587
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:79137
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil...	OMIM:131400
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ...	OMIM:607745
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG...	OMIM:613855
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence 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
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
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	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta...	OMIM:614018
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz...	ORPHA:86909
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Landau-Kleffner Syndrome	Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge...	ORPHA:98818
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G...	OMIM:266100
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,...	ORPHA:163721
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Intellectual Developmental Disorder, Autosomal Dominant 5	EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni...	OMIM:616187
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa...	ORPHA:98820
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Focal motor seizure, Generalized non-motor (absence) seizure, ...	OMIM:617665
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Epilepsy, Familial Temporal Lobe, 7	Focal sensory seizure with auditory features	OMIM:616436
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ...	ORPHA:101071
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Normal interictal EEG, Focal se...	OMIM:602066
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia...	OMIM:617389
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia	OMIM:616341
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617171
Myoclonic-Atonic Epilepsy	Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,...	OMIM:616421
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg...	OMIM:617904
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, EEG abnormality, Generalized-onset seizure, Myoclonus	ORPHA:86814
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p...	OMIM:608105
Epilepsy, Familial Temporal Lobe, 4	Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features	OMIM:611631
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Developmental And Epileptic Encephalopathy 60	Epileptic spasm, Tonic seizure, EEG with burst suppression, Myoclonic seizure, Hypsarrhythmia, Se...	OMIM:617929
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Stxbp1-Related Encephalopathy	Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG with abno...	ORPHA:599373
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti...	ORPHA:35878
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o...	OMIM:619317
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Benign Occipital Epilepsy	Focal impaired awareness seizure, EEG with occipital focal spike waves	ORPHA:25968
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e...	OMIM:617711
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence...	OMIM:617836
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:619913
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M...	ORPHA:3006
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth...	OMIM:616139
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s...	OMIM:619605
Chromosome 15Q11-Q13 Duplication Syndrome	EEG abnormality, Seizure, Bilateral tonic-clonic seizure	OMIM:608636
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure...	OMIM:271980
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ...	OMIM:611726
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr...	OMIM:605021
Dravet Syndrome	Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,...	ORPHA:33069
Immunodeficiency 88	Eosinophilia	OMIM:619630
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona...	ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:162350
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega...	OMIM:226990
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a...	OMIM:617810
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Carnosinase Deficiency	Generalized myoclonic seizure, EEG abnormality	ORPHA:1361
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act...	OMIM:616540
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EEG abnorm...	OMIM:617106
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Unilateral Focal Polymicrogyria	EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit...	ORPHA:268947
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	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus	OMIM:618924
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S...	OMIM:616645
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure	OMIM:619639
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs...	ORPHA:2590
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ...	ORPHA:238459
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s...	OMIM:204300
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Progressive Myoclonic Epilepsy Type 3	Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, EEG with foca...	ORPHA:263516
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure	OMIM:613886
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Benign Familial Neonatal Epilepsy	Focal EEG discharges with secondary generalization, Simple febrile seizure, Focal-onset seizure, ...	ORPHA:1949
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized ...	OMIM:617976
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s...	OMIM:607876
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology	OMIM:105805
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Myoclonus	OMIM:616230
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:618856
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c...	ORPHA:1942
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Yoon-Bellen Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Hypsarrhy...	OMIM:619701
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Multifocal epileptiform discharges, Generalized non-motor (absence) seizure, Hy...	ORPHA:411986
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25...	OMIM:619802
L-Ferritin Deficiency	Generalized-onset seizure	OMIM:615604
Lipoid Proteinosis Of Urbach And Wiethe	Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ...	OMIM:619854
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c...	ORPHA:400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Paroxysmal Exertion-Induced Dyskinesia	Seizure, Generalized non-motor (absence) seizure	ORPHA:98811
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	ORPHA:208441
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic...	OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu...	OMIM:613970
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ...	ORPHA:485350
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S...	ORPHA:330050
Salt And Pepper Developmental Regression Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Myoclonus	OMIM:609056
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a...	OMIM:615859
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, Seizure	OMIM:226750
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener...	ORPHA:352582
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ...	OMIM:301058
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox...	ORPHA:168491
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ...	ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619191
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophi...	OMIM:618394
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei...	ORPHA:363558
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous...	OMIM:618999
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Bronchiectasis, Eosinophilia	OMIM:617638
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di...	ORPHA:209370
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syn...	ORPHA:39041
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Pontocerebellar Hypoplasia, Type 14	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure	OMIM:619301
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ...	ORPHA:501
Lissencephaly 3	Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure	OMIM:611603
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Infantile Convulsions And Choreoathetosis	Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien...	ORPHA:31709
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac...	ORPHA:289266
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615362
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo...	OMIM:617290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Generalized non-motor (absence) seizure	OMIM:616033
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Stat...	OMIM:612164
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, EEG abnormality, Convulsive status epilepticus	OMIM:618760
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:301020
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh...	OMIM:617105
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect...	ORPHA:84064
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure	OMIM:618242
Intellectual Developmental Disorder, Autosomal Dominant 39	Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Peho-Like Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia	OMIM:617507
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptiform disch...	OMIM:617166
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Decreased proportion...	ORPHA:169160
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, Bilateral tonic-clonic seizure, EEG with f...	ORPHA:98795
Pontocerebellar Hypoplasia, Type 15	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure	OMIM:619302
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Bronchiectasis, Eosinophilia	OMIM:618523
Intellectual Developmental Disorder, Autosomal Dominant 45	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal...	OMIM:617600
Spinocerebellar Ataxia, Autosomal Recessive 12	Bilateral tonic-clonic seizure	OMIM:614322
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl...	OMIM:618497
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia...	OMIM:304790
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure	OMIM:604317
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure	OMIM:618425
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei...	OMIM:618170
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Seizure, Bilateral tonic-clonic seizure	OMIM:620317
Developmental And Epileptic Encephalopathy 37	Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus	OMIM:616981
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancrea...	ORPHA:284
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Eosinophilia, Cutaneous abscess	OMIM:147060
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:618090
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Difficulty walking	OMIM:253600
Intellectual Developmental Disorder, X-Linked 30	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 57	Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s...	OMIM:617188
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Cutaneous ab...	OMIM:618282
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni...	OMIM:620166
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Developmental And Epileptic Encephalopathy 110	Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Focal impa...	OMIM:620149
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure	OMIM:620028
Lissencephaly Due To Lis1 Mutation	EEG with changes in voltage, Infantile spasms, Focal motor seizure, Hypsarrhythmia, Seizure, Foca...	ORPHA:95232
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal pe...	ORPHA:457205
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure	OMIM:617862
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Infantile spasms, Focal impai...	OMIM:617493
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenomegal...	OMIM:222470
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Chromosome Xp11.23-P11.22 Duplication Syndrome	EEG abnormality, Generalized non-motor (absence) seizure	OMIM:300801
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ...	OMIM:619983
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:204200
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619065
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di...	ORPHA:91131
Cerebral Creatine Deficiency Syndrome 2	Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo...	OMIM:612736
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Recurrent ...	OMIM:243700
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Aspergillosis	Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Hepatitis, Pulmonary fibro...	ORPHA:1163
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure	ORPHA:488635
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia	OMIM:610163
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Ventricular septal defect	OMIM:614876
Takenouchi-Kosaki Syndrome	Ataxia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal cardiac ...	OMIM:616737
Wells Syndrome	Eosinophilia	ORPHA:901
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta frequency activity in...	ORPHA:98784
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Peritonitis, Cervical lymphade...	ORPHA:2686
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Periventricular Nodular Heterotopia 7	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia	OMIM:617201
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma...	OMIM:615415
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Liang-Wang Syndrome	Status epilepticus, Generalized non-motor (absence) seizure	OMIM:618729
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Pleural effusion	ORPHA:2902
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
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos...	OMIM:617237
Hyperprolinemia Type 2	Early onset absence seizures, Generalized-onset seizure, Seizure, EEG with generalized sharp slow...	ORPHA:79101
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms	ORPHA:467166
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu...	OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 47	Focal impaired awareness seizure	OMIM:616193
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure	ORPHA:544254
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Cardiomyopathy, Dilated, 2E	Death in infancy, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Death in childhood	OMIM:619492
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:726
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Pgm3-Cdg	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata...	ORPHA:443811
Autosomal Dominant Spastic Paraplegia Type 6	Bilateral tonic-clonic seizure	ORPHA:100988
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure	ORPHA:576283
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy...	OMIM:616973
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar...	ORPHA:457351
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus	OMIM:613839
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal pericardium morph...	ORPHA:183
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:313772
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi...	OMIM:600721
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Focal impaired awareness seizure, Generalized tonic seizure	ORPHA:163985
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata...	OMIM:615816
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, EEG with burst supp...	ORPHA:1934
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti...	ORPHA:488613
Developmental And Epileptic Encephalopathy 61	Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617933
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Left ventri...	OMIM:611209
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycop...	OMIM:603585
Severe Canavan Disease	Seizure, Bilateral tonic-clonic seizure	ORPHA:314911
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Death in childhood	OMIM:613759
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia	OMIM:619877
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure	OMIM:617183
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:529665
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure	OMIM:618237
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil...	ORPHA:3260
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614559
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat...	OMIM:610042
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Generalized clonic seizure, Focal-onset seizure, Multifocal epileptif...	OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Seizure, Bilateral tonic-clonic seizure	OMIM:300423
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus	ORPHA:561854
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Macroscopic hema...	ORPHA:274
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia	OMIM:271900
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Sarcosinemia	Bilateral tonic-clonic seizure	ORPHA:3129
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614487
2,4-Dienoyl-Coa Reductase Deficiency	Seizure, Myoclonic absence seizure	OMIM:616034
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ...	OMIM:615398
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Bronchiectasis, Hypochromic microcytic anemia, Decreased eos...	OMIM:619632
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure	OMIM:615031
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Hematuria, Fibrocystic lung disease	OMIM:158310
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the lympha...	ORPHA:487796
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:614207
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Cholecysti...	ORPHA:449395
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Pulmonary artery atresia, Agenesis of pulmonary ve...	OMIM:601186
Intellectual Developmental Disorder, X-Linked 98	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ...	OMIM:300912
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:618235
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:619911
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Sulfite Oxidase Deficiency, Isolated	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges	OMIM:272300
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General...	ORPHA:79351
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure	ORPHA:464282
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal sharp waves, Hypsarrhythmia, Sei...	ORPHA:79243
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormal lung morphology, Abnormality of the lymp...	ORPHA:2035
Netherton Syndrome	Recurrent respiratory infections, Hypereosinophilia	OMIM:256500
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure	OMIM:618093
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis	ORPHA:449400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure	OMIM:300260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615716
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Intellectual Developmental Disorder, Autosomal Dominant 53	EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-c...	OMIM:617798
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Eosinophilia	ORPHA:2314
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di...	OMIM:619371
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei...	ORPHA:395
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar...	OMIM:618325
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil...	ORPHA:544503
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, EEG with continuous slow activity	ORPHA:275864
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot	ORPHA:3033
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Nephrocalcinosis, Leukopenia, Tubulointerstitia...	ORPHA:797
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Inability to walk, Decreased proportion of CD8-positive T cells, Recurrent pneumoni...	ORPHA:508533
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:79264
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur...	OMIM:620224
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Lethargy	ORPHA:199299
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L...	OMIM:617718
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, P...	ORPHA:228123
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st...	ORPHA:2248
Meacham Syndrome	Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl...	OMIM:608978
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Cln3 Disease	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	ORPHA:228346
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus, EEG with occipital epileptiform disch...	ORPHA:254881
Sandhoff Disease, Infantile Form	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	ORPHA:309155
Igg4-Related Pachymeningitis	Eosinophilia, Lymphadenitis, Abnormal lung morphology, Nephritis, Pancreatitis	ORPHA:449427
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure	OMIM:612337
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Focal clonic seizure, Myoclonus, Status ...	OMIM:220120
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure	ORPHA:363686
Angelman Syndrome	Infantile spasms, EEG abnormality, Seizure, Status epilepticus, Myoclonus, Atypical absence seizu...	ORPHA:72
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:615501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia...	OMIM:274000
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Dpm1-Cdg	Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized...	ORPHA:79322
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure	OMIM:618120
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures	OMIM:619725
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Kleefstra Syndrome Due To 9Q34 Microdeletion	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:96147
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Ventricular septal defect	OMIM:147800
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Matthew-Wood Syndrome	Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney,...	ORPHA:2470
X-Linked Intellectual Disability, Hedera Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:93952
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ...	ORPHA:369837
Combined Oxidative Phosphorylation Deficiency 27	Status epilepticus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Myoclonus	OMIM:616672
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges	ORPHA:453510
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Seizure, Generalized non-motor (absence) seizure	OMIM:617360
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Lissencephaly Due To Tuba1A Mutation	Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:171680
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Developmental And Epileptic Encephalopathy 49	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, EEG abnormality...	OMIM:617281
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph...	ORPHA:449432
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Bilateral tonic-clonic seizure	ORPHA:457240
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Inability to walk, Ataxia, Pulmonary hypoplasia	OMIM:618174
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei...	ORPHA:480864
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Cntnap2-Related Developmental And Epileptic Encephalopathy	Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-onset sei...	ORPHA:163681
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypsarrhythmia, Seizure, Myoclo...	OMIM:300672
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Generalized-onset seizure, Status epilepticus	ORPHA:564178
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
Mirage Syndrome	Hypospadias, Anemia, Leukopenia, Microphallus, Aspiration pneumonia, Hypoplastic spleen, Lymphope...	OMIM:617053
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure	ORPHA:369929
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal lung morphology, Lymphadenopathy, N...	ORPHA:449563
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure...	OMIM:619580
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Bilateral tonic-clonic seizure	ORPHA:199354
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:268940
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Weaver Syndrome	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:277590
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Focal tonic seizure, EEG abnormality, ...	ORPHA:404454
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Pate...	ORPHA:1686
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:42
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
X-Linked Intellectual Disability Due To Gria3 Mutations	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	ORPHA:364028
Incontinentia Pigmenti	Gait disturbance, Eosinophilia	ORPHA:464
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hermansky-Pudlak Syndrome 10	EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure	OMIM:617050
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parach...	OMIM:618316
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Kinsship Syndrome	Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo...	OMIM:619297
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation	OMIM:616733
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Focal motor seizure	OMIM:602481
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:466943
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Pol...	OMIM:263210
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Abnormal heart morphology, Pulmonary hypoplasia, Micropenis	OMIM:300978
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Infantile spasms, Decreased ...	OMIM:618733
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pulmona...	OMIM:608013
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Paten...	ORPHA:185
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:620070
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:49827
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Tay-Sachs Disease	Seizure, Typical absence seizure, Focal impaired awareness seizure, Myoclonus	ORPHA:845
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure	ORPHA:258
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure	ORPHA:481152
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Pulm...	ORPHA:1335
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Bile ...	OMIM:612284
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Wiskott-Aldrich Syndrome	Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int...	ORPHA:906
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni...	OMIM:620024
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure	OMIM:618343
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppress...	OMIM:618143
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure	ORPHA:369840
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Seizure, Myoclonus, EEG with s...	ORPHA:247262
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure	OMIM:617193
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A...	OMIM:608149
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Ventricular septal defect, Death in infancy, Right ventricula...	OMIM:613404
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:619435
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f...	OMIM:615668
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Woods Syndrome	Ventricular septal defect	OMIM:615236
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Biotinidase Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl...	ORPHA:79241
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ...	ORPHA:2847
Joubert Syndrome 18	Ventricular septal defect, Camptodactyly	OMIM:614815
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid...	ORPHA:7
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Hypoplast...	ORPHA:392
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:614222
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Japanese Encephalitis	Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, EEG with burst suppres...	ORPHA:79139
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex conge...	OMIM:208085
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Pulmonary hyp...	OMIM:616897
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,...	ORPHA:2257
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
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
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:615474
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Pulmonary hypoplasia, Atriov...	OMIM:314390
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:601927
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture	OMIM:603387
Fatty Acid Hydroxylase-Associated Neurodegeneration	Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:329308
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure	ORPHA:99742
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure	ORPHA:423479
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	ORPHA:513456
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulm...	OMIM:616564
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Pulmonary hypoplasia	ORPHA:250999
Sandhoff Disease	Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:268800
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve...	OMIM:619657
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure	ORPHA:293978
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Lethargy	OMIM:620306
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Truncus Arteriosus	Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ...	ORPHA:3384
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M...	OMIM:306955
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	ORPHA:496641
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Death in childhood	OMIM:612938
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	OMIM:618494
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep...	ORPHA:2008
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se...	OMIM:617478
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def...	ORPHA:1926
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se...	OMIM:612313
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Pulmonary hypoplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pate...	OMIM:618870
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Ventricular septal defect, Camptodactyly	OMIM:301039
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	ORPHA:3426
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy...	OMIM:617022
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ...	ORPHA:268261
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Focal motor seizure, EEG abnormality, Seizure, Status epilepticus	ORPHA:2131
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia	ORPHA:447997
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Alg3-Cdg	Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function	ORPHA:79321
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum...	ORPHA:2260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid...	OMIM:614091
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Intellectual Developmental Disorder, Autosomal Dominant 54	Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617799
Viss Syndrome	Ventricular septal defect, Coronary sinus enlargement, Pneumothorax, Hypereosinophilia, Pulmonary...	OMIM:619472
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Death in infancy, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Melas	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Seizure, Myoclonus	ORPHA:550
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi...	OMIM:605275
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Molybdenum Cofactor Deficiency, Complementation Group B	Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms	OMIM:252160
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Thanatophoric Dysplasia	Atrial septal defect, Pulmonary hypoplasia	ORPHA:2655
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi...	OMIM:613177
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia, Hypoplastic heart, Akinesia	OMIM:253290
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Renal hypoplasia, Periportal ...	OMIM:269860
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Unsteady g...	OMIM:214100
Mosaic Variegated Aneuploidy Syndrome 1	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:257300
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Pallister-Hall-Like Syndrome	Micropenis, Pulmonary hypoplasia	OMIM:241800
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro...	OMIM:208500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure	OMIM:620066
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do...	ORPHA:371428
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth...	OMIM:184260
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Renal hypoplasia, Pulmonary hypoplasia, Micropenis	OMIM:248700
Webb-Dattani Syndrome	Bilateral tonic-clonic seizure	OMIM:615926
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Pulmonary hypoplasia, Lymphopenia	OMIM:619708
Diaphanospondylodysostosis	Horseshoe kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Cystic renal dysplasia, Enlarg...	OMIM:608022
Methimazole Embryofetopathy	Ventricular septal defect	ORPHA:1923
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure	OMIM:261515
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Transaldolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:606003
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:620330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Seizure, Typical absence seizure	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Seizure, Typical absence seizure	ORPHA:352665
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Helsmoortel-Van Der Aa Syndrome	Seizure, Typical absence seizure, Tonic seizure	OMIM:615873
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
X Small Rings	Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:612474
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Atelosteogenesis, Type Ii	Pulmonary hypoplasia	OMIM:256050
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Pagod Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Pulmonary artery...	ORPHA:991
Mitochondrial Dna-Associated Leigh Syndrome	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:255210
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom...	ORPHA:26793
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmo...	OMIM:611812
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa...	OMIM:301044
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Limb hypertonia	OMIM:616920
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis	OMIM:202650
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri...	OMIM:300963
Czeizel-Losonci Syndrome	Dextrocardia, Ureteral agenesis, Congenital megaureter, Pulmonary hypoplasia, Hydronephrosis	ORPHA:2437
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Seizure, Bilateral tonic-clonic seizure	OMIM:301040
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn...	ORPHA:95430
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Distal Triplication 15Q	Horseshoe kidney, Abnormal heart morphology, Pulmonary hypoplasia, Polycystic kidney dysplasia, A...	ORPHA:314588
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphrag...	ORPHA:261344
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Pulmonary hypoplas...	ORPHA:1692
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Pulmonary hypoplasia	OMIM:616866
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Patent...	OMIM:265380
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia ...	ORPHA:354
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Arthrogryposis multiplex congenita, Double outlet right ventricle, Ventricular septal defect, Pul...	OMIM:301056
19P13.12 Microdeletion Syndrome	Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect	ORPHA:254346
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:616777
Meckel Syndrome 14	Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure	ORPHA:79124
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:618426
Alg9-Cdg	Hepatomegaly, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, Abnormal lung...	ORPHA:79328
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia, Hypoplastic heart	OMIM:312150
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septa...	OMIM:601808
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure	ORPHA:319213
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Fanconi Anemia, Complementation Group B	Death in infancy, Patent ductus arteriosus, Ventricular septal defect	OMIM:300514
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Horseshoe kidney, Pulmonary hypoplasia, Atrial se...	ORPHA:2886
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Increased theta frequency activity in EEG, S...	ORPHA:459070
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormality of the ureter, Pulmonary h...	ORPHA:3027
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Focal-onset seizure, Typical absence seizure, Atonic seizure	OMIM:617157
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:488627
Cocaine Intoxication	Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure...	ORPHA:90068
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Ogden Syndrome	Torticollis, Ventricular septal defect	ORPHA:276432
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:618775
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Holoprosencephaly 14	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 3	Seizure, Bilateral tonic-clonic seizure	OMIM:610505
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Fetal Akinesia Deformation Sequence	Pulmonary hypoplasia, Akinesia	ORPHA:994
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea...	ORPHA:980
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l...	ORPHA:99050
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:243150
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:99885
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias, Pulmonary hypoplasia	ORPHA:171430
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure	OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:309520
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Vesicoureteral reflux, Choreoathetosis, Pulmonary hypo...	OMIM:614080
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:500150
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Increased urinary cortisol level	ORPHA:96253
Carpenter Syndrome 2	Generalized non-motor (absence) seizure	OMIM:614976
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Joubert Syndrome 21	Splenomegaly, Ataxia, Pulmonary hypoplasia, Renal cyst	OMIM:615636
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure	OMIM:278800
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood	OMIM:600460
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve	OMIM:130720
Zellweger Syndrome	Death in infancy, Ventricular septal defect	ORPHA:912
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure	OMIM:234100
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology, Pulmonary hypoplasia	ORPHA:1190
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:96167
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Congenital Disorder Of Glycosylation, Type It	Rhabdomyolysis, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal cardiac septum morphology, Pulmonary hypoplas...	ORPHA:2059
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:620113
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Penoscrotal transposition, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular...	OMIM:619148
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Renal Hypodysplasia/Aplasia 1	Proteinuria, Pulmonary hypoplasia	OMIM:191830
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti...	OMIM:263520
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Perimembranous ventricular septal de...	ORPHA:83617
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Sotos Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ...	ORPHA:821
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Bilateral renal hypoplasia, Unila...	ORPHA:49
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t...	ORPHA:99889
Genitopatellar Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis	ORPHA:85201
Bohring-Opitz Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Camptodactyly	OMIM:605039
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Macroglossia, Atrial...	ORPHA:453499
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect	OMIM:235255
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Congenital finger flexion con...	OMIM:615582
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal aortic valve morphology, Pulmonary hypoplasia, Gait disturbance	ORPHA:2990
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri...	OMIM:300998
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Hypospadias, Unilate...	OMIM:270400
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure	OMIM:280000
Congenital Myopathy 17	Respiratory tract infection, Renal hypoplasia, Pulmonary hypoplasia, Ureteropelvic junction obstr...	OMIM:618975
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atr...	OMIM:235510
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Renal Tubular Dysgenesis	Anuria, Pulmonary hypoplasia	OMIM:267430
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Abnormal lung morphology, Horseshoe kidney, Abnormal hear...	ORPHA:1708
Joubert Syndrome 14	Ventricular septal defect	OMIM:614424
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Renal cy...	OMIM:229850
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure	ORPHA:77293
Kleefstra Syndrome	Macroglossia, Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve	ORPHA:261494
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Abnormality o...	OMIM:249000
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect	ORPHA:166035
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia, Abnormal heart morphology	ORPHA:1865
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Respiratory infections in early life, Chordee, Pulmonary hypopl...	ORPHA:96179
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:614114
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect...	ORPHA:99125
Alagille Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:52
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Inability to walk, Pulmonary hypop...	ORPHA:86309
Thoracoabdominal Syndrome	Ectopia cordis, Pulmonary hypoplasia, Hypospadias, Transposition of the great arteries	OMIM:313850
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Limb hypertonia, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Greenberg Dysplasia	Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet...	OMIM:215140
Thanatophoric Dysplasia, Type I	Pulmonary hypoplasia	OMIM:187600
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph...	ORPHA:90652
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure	OMIM:252010
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis	ORPHA:488632
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Hypert...	ORPHA:506
Focal Dermal Hypoplasia	Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her...	ORPHA:2092
Tetrasomy 5P	Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:614947
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Ventricular septal defect, Death in adolescence, Camptodactyly, Atrial septal d...	OMIM:614866
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Mitral stenos...	ORPHA:163956
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia	OMIM:224410
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Camptodactyly, Pate...	OMIM:616894
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Tetraamelia Syndrome 1	Asplenia, Urethral atresia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia	OMIM:273395
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he...	ORPHA:2745
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Contracture of the proximal interphalangeal join...	ORPHA:464738
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pat...	OMIM:617506
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o...	ORPHA:1507
Doors Syndrome	EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Schinzel-Giedion Syndrome	Myeloid leukemia, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, R...	ORPHA:798
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Pulmonic stenosis...	OMIM:608328
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Perimembranou...	ORPHA:508498
De Barsy Syndrome	Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect	ORPHA:2962
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of finger	ORPHA:3138
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia	OMIM:151210
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure	ORPHA:457359
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Congenital diaphragmat...	OMIM:618454
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Diastasis recti	OMIM:257920
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Micropenis, Tet...	OMIM:617925
Gaucher Disease	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	ORPHA:355
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Hydronephros...	OMIM:308050
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, Ventricular septal defect	OMIM:614653
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Pulmonary hypoplasia	OMIM:619351
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:268249
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect	ORPHA:769
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:96121
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Camptodactyly of finger	ORPHA:261330
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Trisomy 18	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect	OMIM:618268
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Limb hypertonia	OMIM:609460
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Hartsfield Syndrome	Bilateral tonic-clonic seizure	OMIM:615465
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Camptodactyly, Atrial septal d...	OMIM:300373
Tetrasomy 9P	Absent gallbladder, Pericarditis, Dextrocardia, Jaundice, Biliary atresia, Horseshoe kidney, Abno...	ORPHA:3310
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:614756
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect	ORPHA:1393
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Muscu...	OMIM:210710
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Pulmonary artery hypoplasia, Pulm...	OMIM:620025
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:616546
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Mowat-Wilson Syndrome	Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure, EEG with spike-wave c...	ORPHA:2152
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Aortic valve sten...	ORPHA:464311
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter...	OMIM:256520
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Pulmonary hypoplasia, Renal hypoplasia, Renal cyst	OMIM:616300
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Macroglossia, Tricu...	ORPHA:261337
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Atrial septal defect, Dy...	OMIM:602535
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300712
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou...	OMIM:300166
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect	OMIM:227645
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Mitral valve prolapse	ORPHA:536467
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal-onset seizure, EEG abnormality, Seizure, Atypical absence seizure	ORPHA:261537
Osteogenesis Imperfecta	Abnormal endocardium morphology, Ataxia, Nephrolithiasis, Hypercalciuria, Mitral valve prolapse, ...	ORPHA:666
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Multiple Pterygium Syndrome, Escobar Variant	Gait disturbance, Pulmonary hypoplasia, Hypospadias	OMIM:265000
Choreoacanthocytosis	Seizure, Bilateral tonic-clonic seizure, Decreased amplitude of sensory action potentials	ORPHA:2388
Simpson-Golabi-Behmel Syndrome	Death in infancy, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:373
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Multiple joint contractures, Ventricular septal ...	ORPHA:464306
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Raine Syndrome	Hydroureter, Pulmonary hypoplasia, Hydronephrosis	OMIM:259775
Feingold Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal-onset seizure, EEG abnormality, Seizure, Atypical absence seizure	ORPHA:261552
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital d...	ORPHA:2162
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A...	ORPHA:536471
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt...	OMIM:309500
Microcephaly-Micromelia Syndrome	Pulmonary hypoplasia	OMIM:251230
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Stillbirth, Agenesis of the diaphragm, Ventricular septal...	OMIM:236680
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia	OMIM:601559
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Death in infancy	ORPHA:2308
Esophageal Atresia	Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Te...	ORPHA:1199
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:122470
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology,...	ORPHA:363958
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Achondroplasia	Pulmonary hypoplasia	OMIM:100800
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Mckusick-Kaufman Syndrome	Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr...	OMIM:236700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:163979
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton...	ORPHA:438213
Diamond-Blackfan Anemia 1	Atrial septal defect, Small thenar eminence, Ventricular septal defect, Tricuspid stenosis	OMIM:105650
Achondrogenesis, Type Ia	Pulmonary hypoplasia	OMIM:200600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Hepatos...	ORPHA:96334
Neu-Laxova Syndrome	Pulmonary hypoplasia	ORPHA:2671
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis	OMIM:271520
Atelosteogenesis Type Ii	Pulmonary hypoplasia	ORPHA:56304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Flexion contracture, Bicuspid aortic valve	OMIM:271640
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati...	OMIM:154400
Fraser Syndrome 1	Hypospadias, Renal hypoplasia, Abnormal heart morphology, Abnormal thymus morphology, Pulmonary h...	OMIM:219000
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Mitral valve prolapse, ...	OMIM:180849
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Macroglossia, Pat...	ORPHA:444077
Diets-Jongmans Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnorma...	ORPHA:567
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Diamond-Blackfan Anemia	Atrial septal defect, Ventricular septal defect, Abnormality of the thenar eminence, Abnormal hea...	ORPHA:124
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect	OMIM:619575
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Pneumothorax, Abnormal heart morphology, Pulmonary h...	OMIM:612289
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly	OMIM:616145
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial...	OMIM:619534
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly	ORPHA:137675
Keutel Syndrome	Miscarriage, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:200980
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture	OMIM:117650
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Degcags Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dia...	OMIM:619488
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Zttk Syndrome	Atrial septal defect, Patent ductus arteriosus, Flexion contracture, Ventricular septal defect	OMIM:617140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, F...	OMIM:619503
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Williams Syndrome	Abnormal endocardium morphology, Death in early adulthood, Overriding aorta, Bicuspid aortic valv...	ORPHA:904
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Abno...	ORPHA:508488
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Congenital Tracheal Stenosis	Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart	ORPHA:141127
Hardikar Syndrome	Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, A...	OMIM:301068
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Torticollis	OMIM:619475
Vacterl With Hydrocephalus	Pulmonary hypoplasia	ORPHA:3412
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypoplasia, Renal...	ORPHA:93271
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Transposition of the great arteries, Pulmonary h...	ORPHA:1662
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa...	OMIM:312870
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:118450
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:163950
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobation, Renal hyp...	ORPHA:2052
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia	ORPHA:50945
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ...	OMIM:214800
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Kabuki Syndrome 1	Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:147920
Mowat-Wilson Syndrome	Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea...	OMIM:235730
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Flexion contracture, Mitral valve prolapse, Myx...	OMIM:194050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:2753
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con...	OMIM:268300
Restrictive Dermopathy 1	Atrial septal defect, Ureteral duplication, Hypospadias, Pulmonary hypoplasia	OMIM:275210
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	OMIM:135900
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect	OMIM:194190
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Ulbright-Hodes Syndrome	Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Pulmonary hypoplasia, Polycystic kidne...	ORPHA:3404
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defe...	OMIM:606170
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia	OMIM:616503
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:199
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Distal arthrogryposis, Atrial septal defect,...	ORPHA:672
Ulnar-Mammary Syndrome	Elbow flexion contracture, Ventricular septal defect	OMIM:181450
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s...	OMIM:261540
Digeorge Syndrome	Patent ductus arteriosus, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Alström Syndrome	Typical absence seizure	ORPHA:64
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Fetal Akinesia Deformation Sequence 1	Pulmonary hypoplasia	OMIM:208150
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con...	OMIM:601803
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Death in childhood, At...	OMIM:243800
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney, Pulmonary hypoplasia, Ve...	OMIM:164210
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia	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
Kdm1a^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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