Gene Summary

Name:
FBJ osteosarcoma oncogene B
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal kidney morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged kidney Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal skin morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

35 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Fosb mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Intellectual Developmental Disorder, Autosomal Dominant 2
Seizure OMIM:614113
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... ORPHA:280397
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Semantic Dementia
Dementia, Abulia ORPHA:100069
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships OMIM:300425
Autism
Impaired ability to form peer relationships OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships OMIM:608636
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Ethanolaminosis
Cardiomegaly OMIM:227150
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Difficulty walking, Attention defic... OMIM:619191
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Spinocerebellar Ataxia Type 27
Memory impairment, Akinesia, Aggressive behavior, Gait ataxia, Limb ataxia, Gait disturbance, Tru... ORPHA:98764
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Creutzfeldt-Jakob Disease
Memory impairment, Anxiety, Dementia, Apathy, Gait ataxia, Irritability, Depression OMIM:123400
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycystic kidney dysplasia, Sit... OMIM:615382
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Epilepsy, Nocturnal Frontal Lobe, 5
Depression, Cognitive impairment, Personality disorder, Aggressive behavior OMIM:615005
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impai... OMIM:245570
Huntington Disease-Like 1
Dysmetria, Anxiety, Dementia, Aggressive behavior, Unsteady gait, Depression OMIM:603218
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... ORPHA:101071
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized myoclonic seizure... OMIM:611726
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Impairment in pers... ORPHA:96369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Memory impairment, Anxiety, Inappropriate behavior, Ataxia, Depression ORPHA:401901
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus OMIM:613608
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, S... OMIM:616645
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Manganese Poisoning
Memory impairment, Akinesia, Aggressive behavior, Impairment in personality functioning, Emotiona... ORPHA:306682
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Anxiety, Dementia, Athetosis, Apathy, Depression OMIM:615483
Pick Disease Of Brain
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Frontotemporal d... OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness OMIM:618221
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Dementia, Akinesia, Unst... ORPHA:240094
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure ORPHA:163721
Spinocerebellar Ataxia 21
Cognitive impairment, Mental deterioration, Ataxia, Aggressive behavior, Akinesia, Apathy, Progre... OMIM:607454
Perry Syndrome
Suicidal ideation, Short stepped shuffling gait, Disinhibition, Anxiety, Inappropriate behavior, ... OMIM:168605
Frontotemporal Dementia
Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual behavior, Front... OMIM:600274
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-clonic seiz... OMIM:619605
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Disinhibition, Inappropriate behavior, Mental deterioration, Emotional bluntin... ORPHA:275864
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Spinocerebellar Ataxia 12
Dysmetria, Anxiety, Dementia, Progressive cerebellar ataxia, Dysdiadochokinesis, Depression OMIM:604326
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversu... OMIM:615415
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... ORPHA:36387
Huntington Disease-Like 2
Anxiety, Dementia, Apathy, Irritability, Depression OMIM:606438
Geniospasm 1
Anxiety OMIM:190100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Akinesia ORPHA:98773
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Seizure, St... ORPHA:330050
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure ORPHA:208441
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition of the great arteri... OMIM:314390
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms, Focal-onset seizure OMIM:619301
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... ORPHA:307
Posterior Cortical Atrophy
Inertia, Anxiety, Memory impairment, Ataxia ORPHA:54247
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, My... OMIM:618559
Spinocerebellar Ataxia 48
Dysmetria, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Depression OMIM:618093
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... ORPHA:178469
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Status epilepticus, Generalized myoclonic-atoni... OMIM:619701
Juvenile Huntington Disease
Dementia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Depres... ORPHA:248111
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms, Focal-onset seizure OMIM:619302
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... ORPHA:208447
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619616
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction ORPHA:329249
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Focal-onset seizure, Limb myoclonus, Bilateral tonic-clonic seizur... ORPHA:352582
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:618917
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Hereditary Late-Onset Parkinson Disease
Low frustration tolerance, Shuffling gait, Dementia, Mental deterioration, Akinesia, Apathy, Depr... ORPHA:411602
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus ORPHA:726
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Corticobasal Syndrome
Akinesia, Dementia, Memory impairment, Gait disturbance ORPHA:454887
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... ORPHA:289266
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:271980
Narcolepsy 7
Narcolepsy OMIM:614250
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic... OMIM:612164
Parkinson Disease 17
Akinesia OMIM:614203
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic seizure, Seizure, Myo... OMIM:610539
Kufor-Rakeb Syndrome
Dementia, Akinesia, Ataxia, Aggressive behavior, Gait disturbance OMIM:606693
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Bilater... ORPHA:382
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology, Nephropathy ORPHA:85447
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Myoclon... ORPHA:2590
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Classic Progressive Supranuclear Palsy Syndrome
Mental deterioration, Akinesia, Social and occupational deterioration, Gait imbalance, Impulsivit... ORPHA:240071
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Repeated focal motor seizures, Bilateral tonic... ORPHA:1929
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:301058
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:485350
Foxg1 Syndrome
Status epilepticus, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus ORPHA:561854
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:617303
Meacham Syndrome
Enlarged kidney, Tetralogy of Fallot, Horseshoe kidney, Atrial septal defect, Scimitar anomaly, D... OMIM:608978
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Mental deterioration, Akinesia OMIM:616840
Supranuclear Palsy, Progressive, 2
Memory impairment, Frontolimbic dementia, Akinesia, Apathy, Irritability, Gait imbalance, Falls OMIM:609454
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Poly... OMIM:608836
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasi... OMIM:208540
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Focal motor seizure, Focal impaired awareness se... ORPHA:268947
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Aceruloplasminemia
Cognitive impairment, Memory impairment, Ataxia, Akinesia, Apathy, Gait ataxia, Limb ataxia ORPHA:48818
Supranuclear Palsy, Progressive, 1
Memory impairment, Frontolimbic dementia, Akinesia, Apathy, Irritability, Gait imbalance, Falls OMIM:601104
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Memory impairment, Shuffling gait, Dementia, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis ORPHA:247234
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal i... OMIM:619428
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... OMIM:618170
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus OMIM:614487
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Typical a... ORPHA:168491
Postencephalitic Parkinsonism
Abnormal aggressive, impulsive or violent behavior, Happy demeanor, Depression, Akinesia ORPHA:97349
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Focal myoclonic seizure ORPHA:464282
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Hypertrophic car... OMIM:276700
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Seizure, Status epilepticus ORPHA:529665
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Dk1-Cdg
Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Focal-onset seizure ORPHA:91131
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus ORPHA:313772
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Stiff Person Spectrum Disorder
Anxiety, Agoraphobia, Emotional lability, Falls, Difficulty walking ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Anxiety, Cognitive impairment, Abnormal fear/anxiety-related behavior ORPHA:309246
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Patent foramen ovale, Hepatosplenomegaly, Proteinuria, Atria... ORPHA:505248
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Infantile Sialic Acid Storage Disease
Cardiomegaly, Nephrotic syndrome, Hepatomegaly, Splenomegaly OMIM:269920
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Pericardial effusion, Multiple renal cysts ORPHA:464329
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Right ventricular dilatation, Atrial septal defect, Hydrone... ORPHA:79328
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Myoclonic spasms, Seizure ORPHA:79264
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Hepatomegaly, Increa... OMIM:256550
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney dysplasia, Ventricular septa... ORPHA:500095
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Nephroblastoma, Cardiomegaly, Myocardial fibrosis OMIM:253250
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure ORPHA:488613
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:544503
Gaucher Disease, Perinatal Lethal
Apathy, Progressive neurologic deterioration, Akinesia OMIM:608013
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
H Syndrome
Micropenis, Enlarged kidney, Abnormality of the kidney, Hepatosplenomegaly ORPHA:168569
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:79243
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized-onset seizure OMIM:615501
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:369929
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures ORPHA:98784
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hepatomegaly OMIM:255120
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Generalized tonic seizure... ORPHA:480864
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Focal impaired awareness seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... OMIM:619580
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Hyp... ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Status epilepticus ORPHA:364028
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:42
Neurodegeneration With Brain Iron Accumulation 1
Dementia, Hyperactivity, Mental deterioration, Akinesia, Ataxia, Gait disturbance, Depression OMIM:234200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Focal impaired awareness ... ORPHA:1947
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Bilateral Polymicrogyria
Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-cl... ORPHA:268940
Autosomal Dominant Cerebellar Ataxia
Cognitive impairment, Dementia, Akinesia, Progressive cerebellar ataxia, Gait disturbance ORPHA:99
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Ac... ORPHA:731
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown u... ORPHA:228308
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Proteinuria, Hepatomegaly, Tubulointerstitial... ORPHA:79259
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hemochromatosis, Type 1
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:235200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly,... OMIM:616897
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoclonus, Bilateral ton... ORPHA:72
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Focal emotional seizure with laughing, Epileptic s... ORPHA:79351
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... OMIM:300912
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced ... OMIM:201475
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Sickle Cell Anemia
Hematuria, Splenomegaly, Hepatomegaly, Renal insufficiency, Cardiomegaly OMIM:603903
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Hypertrophic cardiomyopathy, Long penis, Enlar... ORPHA:508
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized n... ORPHA:395
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:457351
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy, ... ORPHA:391428
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure ORPHA:481152
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:617193
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Febrile seizure (within the age ... ORPHA:1934
Biotinidase Deficiency
Generalized myoclonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure, Infa... ORPHA:79241
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Multifocal seizures, Status epilept... OMIM:618143
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Renal cyst, Total anomalous pulmonary venous return, Atrial septal defect, Hydro... OMIM:312870
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:247262
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Fucosidosis
Cardiomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:349
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Dpagt1-Cdg
Inability to walk, Ataxia, Emotional blunting, Aggressive behavior, Akinesia, Head-banging ORPHA:86309
Beck-Fahrner Syndrome