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Gene: Kdm1a MGI:1196256

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Kdm1atm1(NCOM)Mfgc HET Early adult 9.25×10-08
small spleen Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
increased eosinophil cell number Kdm1atm1(NCOM)Mfgc HET Early adult 2.02×10-15
small heart Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
preweaning lethality, complete penetrance Kdm1atm1(NCOM)Mfgc HOM   Early adult 0.00
hypoactivity Kdm1atm1(NCOM)Mfgc HET   Early adult 4.49×10-06
small liver Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
small kidney Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
increased mean platelet volume Kdm1atm1(NCOM)Mfgc HET Early adult 3.96×10-06
small lung Kdm1atm1(NCOM)Mfgc HET Early adult 0.00
increased basophil cell number Kdm1atm1(NCOM)Mfgc HET Early adult 1.11×10-26

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kdm1a mutations

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

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:601068
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... ORPHA:139426
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... OMIM:615744
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, EEG... OMIM:617831
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, Myoclonic absenc... OMIM:618596
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:611634
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure, Hypsarrhythmia OMIM:617771
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... ORPHA:79137
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... ORPHA:2382
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopeni... OMIM:131400
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:163721
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... OMIM:245570
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
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... ORPHA:98820
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... ORPHA:98818
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... OMIM:619157
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... OMIM:607745
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... OMIM:615476
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
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, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Progressive Myoclonic, 6
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure OMIM:614018
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... ORPHA:3006
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... ORPHA:35878
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure ORPHA:86814
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure OMIM:611631
Benign Occipital Epilepsy
EEG with occipital focal spike waves, Focal impaired awareness seizure ORPHA:25968
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-c... OMIM:611726
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... ORPHA:65683
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus OMIM:618924
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Dravet Syndrome
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... ORPHA:33069
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia OMIM:617638
Immunodeficiency 88
Eosinophilia OMIM:619630
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, EEG abnormality, Atonic seizure, Generalized n... OMIM:617810
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... ORPHA:2590
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology ORPHA:2582
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, EEG abnormality, Generalized myoclon... OMIM:271980
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality ORPHA:1361
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Developmental And Epileptic Encephalopathy 12
Generalized-onset seizure, Hypsarrhythmia, Focal-onset seizure OMIM:613722
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:607876
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Slc35A1-Cdg
Neutropenia, Pneumonia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thromb... ORPHA:238459
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Polymicrogyria, Bilateral Temporooccipital
Seizure, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Pneumonia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Sp... OMIM:603554
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... OMIM:619616
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... ORPHA:178469
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Hypsarrhythmia, Infantile spasms OMIM:618677
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Limb myoclonus, Focal clonic seizure, Focal tonic seiz... ORPHA:1949
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... ORPHA:208447
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Hypsarrhythmia, Multifocal epilept... ORPHA:411986
Familial Infantile Myoclonic Epilepsy
EEG with focal spike waves, Limb myoclonus, Bilateral tonic-clonic seizure, Seizure, Bilateral to... ORPHA:352582
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with burst suppression, Status epilepticus, G... OMIM:612164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, EEG with focal epileptiform discharges, Generalized co... ORPHA:1929
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abscess... ORPHA:400
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Bilateral tonic-clonic seizure, EEG with series of focal spikes, Focal t... ORPHA:168491
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Status epilepticus, Fo... ORPHA:330050
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonus, Focal impaired ... ORPHA:485350
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... OMIM:301058
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia OMIM:212050
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, EEG with occipital epileptiform ... OMIM:619428
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Lafora Disease
Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonus, Focal impaired ... ORPHA:501
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Eosinophilia OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent lower respiratory tract infections, Decreased proportion ... ORPHA:169154
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:289266
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... OMIM:616651
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Hepatosplenomegaly, Eosinophilic liver... OMIM:618999
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Splenomegaly, Decreased basophil count, Decre... OMIM:618394
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:254780
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, T... OMIM:169400
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Pneumonia, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:39041
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Focal-onset seizure OMIM:618760
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-... ORPHA:98795
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Bicuspid aortic valve, Hepatic fibr... ORPHA:84064
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619301
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent respiratory infections, Bronchiectasis OMIM:618282
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Recurrent upper and lower respiratory tract i... ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Pneumonia, Lymphadenopathy, Lymphadenitis, Recurrent upper and lower respirat... ORPHA:911
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Hepatosplenomegaly, Recurrent pneumonia, Eosinophilia ORPHA:353298
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Recurrent... ORPHA:169160
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Difficulty walking OMIM:253600
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619302
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal... ORPHA:457205
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Renal ... ORPHA:284
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, An... OMIM:304790
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Hypsarrhythmia, Seizure,... ORPHA:95232
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia OMIM:618092
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent respiratory infections, Bronchiectasis OMIM:618523
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Atonic seizure, Genera... ORPHA:382
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia OMIM:147060
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Dk1-Cdg
Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with generalized slow activ... ORPHA:91131
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure ORPHA:488635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Pneumonia, Reduced red cell adenosine deaminase level, Splenomeg... OMIM:102700
Intellectual Developmental Disorder, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized-onset seizure... OMIM:617188
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Recurrent sinopulmon... ORPHA:486
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Wells Syndrome
Eosinophilia ORPHA:901
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Nephrotic syndrome, Interstitial pneumonitis, Lymphade... ORPHA:139402
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618730
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:488613
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Ventricular septal def... OMIM:222470
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Infantile Convulsions And Choreoathetosis
Experiential epileptic aura, Normal interictal EEG, Focal impaired awareness seizure, Seizure, Fo... ORPHA:31709
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Cystic renal dysplasia, Truncus arteriosus, Hepatic fi... OMIM:615415
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure ORPHA:544254
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, EEG abnormality, Bilateral tonic-clonic seizure ORPHA:313772
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal... OMIM:610539
Aspergillosis
Neutropenia, Pneumonia, Bronchiectasis, Pleuritis, Hepatitis, Hypersensitivity pneumonitis, Pulmo... ORPHA:1163
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure ORPHA:529665
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Pulmonic stenosis, Ataxia, Abnormal ... OMIM:616737
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Hypsarrhyth... ORPHA:88616
Nicolaides-Baraitser Syndrome
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:3051
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency 49
Pulmonary artery stenosis, Eosinophilia, Lymphopenia OMIM:617237
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Respiratory tract infection, Lymphopenia, Cyclic ... ORPHA:2686
Hereditary Folate Malabsorption
Megaloblastic anemia, Recurrent respiratory infections, Pancytopenia, Thrombocytopenia, Eosinophilia ORPHA:90045
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Hyperprolinemia Type 2
Febrile seizure (within the age range of 3 months to 6 years), Early onset absence seizures, Seiz... ORPHA:79101
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, Nocturnal seizures, In... ORPHA:98784
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythm... ORPHA:457351
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Gait disturbance, Tubulointerstitial nephritis, Endocar... ORPHA:183
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Hypersensitivity pneumonitis, Pleural effusion ORPHA:2902
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:1947
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancr... ORPHA:3032
Foxg1 Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Focal-onset seizure ORPHA:561854
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Recurrent lower respiratory tract infections, Pleu... OMIM:619632
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Generalized tonic seizure, Focal impaired awareness seizure ORPHA:163985
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:614487
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Bilateral tonic-clonic seizure ORPHA:275864
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Kohlschutter-Tonz Syndrome-Like
EEG with focal spike waves, Nocturnal seizures, Myoclonus, Hypsarrhythmia, Seizure, Multifocal ep... OMIM:619229
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Ataxia, Proteinuria, Throm... OMIM:603585
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:464282
Immunodeficiency 23
Neutropenia, Bronchiectasis, Abscess, Ataxia, Recurrent respiratory infections, Lymphopenia, Memb... OMIM:615816
Lathosterolosis
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Elevated h... OMIM:607330
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Pneumonia, Hematuria, Recurrent pneumonia, Fibrocystic lung disease, Eosinophilia OMIM:158310
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Elevated hepa... ORPHA:3260
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Emphysema, Bronchiectasis ORPHA:1164
Bernard-Soulier Syndrome
Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced plate... ORPHA:274
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Pleuritis, Abnormal lung morphology, Chronic kidne... ORPHA:449395
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Pulmonary hypoplasia, Bile duct proli... OMIM:208540
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seizure, EEG wit... ORPHA:544503
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Status epileptic... OMIM:300912
Pyruvate Dehydrogenase E1-Alpha Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, EEG with focal spikes,... ORPHA:79243
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, Epileptic spasm, Atonic se... ORPHA:79351
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Myoclonic spasms, Interictal EEG abnormality, Bilateral tonic-clonic seizure ORPHA:79264
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal h... OMIM:601186
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Gene... ORPHA:395
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Pulmonary hypoplasia, Hepatic cysts, Tubulointerstitial fibrosis,... OMIM:263200
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Total anomalous pulmonary venous ret... ORPHA:487796
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... ORPHA:435638
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Angelman Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Status epilepticus, Atonic ... ORPHA:72
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia OMIM:617425
Lymphatic Filariasis
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphati... ORPHA:2035
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia ORPHA:449400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure OMIM:300260
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Pneumonia, Iron deficiency anem... OMIM:600903
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:619091
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Ventricular septal defect, Horseshoe kidney, Pancreatic cysts, Anemia, Hepatospleno... OMIM:274000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Sarcoidosis
Tubulointerstitial nephritis, Lymphadenopathy, Abnormal lung morphology, Eosinophilia, Portal hyp... ORPHA:797
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Horseshoe kidney, Mitral valve prolapse, Inability to walk, Hypereosinophilia, Decr... ORPHA:508533
Scleroderma
Myocarditis, Pericarditis, Interstitial cardiac fibrosis, Acute kidney injury, Hypereosinophilia,... ORPHA:801
Netherton Syndrome
Hypereosinophilia OMIM:256500
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Normocytic anemia, Hepatitis, Eosinophilia, Lethargy ORPHA:199299
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Bilateral tonic-clonic seizure with generalized onset OMIM:619028
Renal Tubular Dysgenesis
Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Nephropathy, Pulmonary hypoplasia ORPHA:3033
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Pericarditis, Pneumonia, Peritonitis, Lym... ORPHA:228123
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Ring Chromosome 21 Syndrome
Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Simple febrile s... ORPHA:1445
Igg4-Related Pachymeningitis
Lymphadenitis, Nephritis, Pancreatitis, Abnormal lung morphology, Eosinophilia ORPHA:449427
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Recurrent respiratory infections ORPHA:2314
Thymic Aplasia With Fetal Death
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure ORPHA:453510
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Multifocal epileptiform ... ORPHA:369837
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:96147
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Dpm1-Cdg
Early onset absence seizures, Seizure, Atonic seizure, Generalized myoclonic seizure, Generalized... ORPHA:79322
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Hypsarrhythmia OMIM:619076
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure, Multifocal se... ORPHA:480864
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnorma... ORPHA:2470
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Bilateral Polymicrogyria
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Generalized-onset seizure, Focal-onset... ORPHA:268940
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Cntnap2-Related Developmental And Epileptic Encephalopathy
Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG with generali... ORPHA:163681
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615802
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... OMIM:619580
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Pitt-Hopkins-Like Syndrome 1
Seizure, Generalized-onset seizure, EEG abnormality, Focal-onset seizure OMIM:610042
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure ORPHA:364028
Igg4-Related Submandibular Gland Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Abnormal pancreas morphology, Eosinophili... ORPHA:449432
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia OMIM:615524
Pearson Syndrome
Neutropenia, Lacticaciduria, Splenomegaly, Pancytopenia, Bone marrow hypocellularity, Renal cyst,... ORPHA:699
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Focal tonic seizure, Focal emotional seizure with laughing, Myoclonus, Atonic s... ORPHA:404454
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Status epilepticus, Generalized-onset seizure ORPHA:564178
Developmental And Epileptic Encephalopathy 2
Infantile spasms, Myoclonus, Multifocal seizures, Hypsarrhythmia, EEG with generalized slow activ... OMIM:300672
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Igg4-Related Ophthalmic Disease
Cholangitis, Neoplasm of the lung, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatitis, Abnor... ORPHA:449563
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Infantile spasms, Bilateral tonic-clonic seizure, Decreased ... OMIM:618733
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Cardiomyopathy, Lacticaciduria OMIM:619003
Mirage Syndrome
Hypospadias, Leukopenia, Anemia, Lymphopenia, Aspiration pneumonia, Thrombocytopenia, Microphallu... OMIM:617053
Incontinentia Pigmenti
Attention deficit hyperactivity disorder, Gait disturbance, Eosinophilia ORPHA:464
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... ORPHA:466943
Developmental And Epileptic Encephalopathy 95
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, EEG with burst suppression, Status ... OMIM:618143
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure, EEG with polyspike wave complexes, EEG with s... ORPHA:247262
Kinsship Syndrome
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:619297
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:617193
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta,... OMIM:617022
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia OMIM:616733
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure ORPHA:258
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure, Akinesia, ... OMIM:608013
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Tay-Sachs Disease
Seizure, Myoclonus, Focal impaired awareness seizure, Typical absence seizure ORPHA:845
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Tonne-Kalscheuer Syndrome
Hypospadias, Abnormal heart morphology, Micropenis, Broad-based gait, Pulmonary hypoplasia OMIM:300978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetr... OMIM:618316
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Extrapulmonary sequestrum, Pancreatic fib... OMIM:200995
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Cardiac total a... OMIM:608978
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Situs inversus totalis, Nephronophthisis, Stage 5 chronic k... OMIM:602088
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Absent gallbladder, Atrial septal defect, Tetralogy of Fa... ORPHA:1335
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
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Interictal epileptifor... ORPHA:79139
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Polycystic kidney dysplasia, Pulmonary hypopla... OMIM:263210
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease, Pulmonary hypoplasia OMIM:612284
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Micropenis, Pulmonary hypoplasia OMIM:241800
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Hypomagnesemia, Seizures, And Mental Retardation 2
Status epilepticus, Generalized-onset seizure OMIM:618314
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Focal tonic seizure, Myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset, E... ORPHA:314655
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Proximal tu... OMIM:231680
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus OMIM:616716
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Scimitar Syndrome
Dextrocardia, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Bronchogenic cyst... ORPHA:185
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonic stenosis, Splenomegaly, Atrial septal defect, P... OMIM:608149
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia OMIM:236500
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia OMIM:602361
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary sequestration, Mitral stenosis, Atria... ORPHA:2847
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... ORPHA:513456
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with focal spikes ORPHA:255249
Alg3-Cdg
Decreased liver function, Dystonia, Pulmonary hypoplasia, Cardiomyopathy ORPHA:79321
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia, Akinesia OMIM:601160
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Pulmonic stenosis, Pulmonary h... ORPHA:139466
Melas
Bilateral tonic-clonic seizure, Myoclonus, Seizure, EEG abnormality, Focal-onset seizure ORPHA:550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Cardiomegaly... OMIM:616897
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Bilateral... ORPHA:268261
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation, Right ventricular hypertro... ORPHA:3384
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Spinal Muscular Atrophy With Congenital Bone Fractures 2