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Gene: Fosb MGI:95575

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Gene Summary

Name:
FBJ osteosarcoma oncogene B
Synonyms:
N/A

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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
enlarged heart Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal skin morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral density Fosbtm1b(KOMP)Wtsi HOM Early adult 1.67×10-07
decreased mean corpuscular volume Fosbtm1b(KOMP)Wtsi HOM   Early adult 4.65×10-05
abnormal kidney morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged kidney Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Fosbtm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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 50% (1 of 2)
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 50% (1 of 2)
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 0.0% (0 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
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
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
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 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Basal Ganglia Calcification, Idiopathic, 6
Depression, Choreoathetosis, Dementia, Cognitive impairment, Memory impairment OMIM:616413
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions OMIM:618103
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Creutzfeldt-Jakob Disease
Confusion, Gait ataxia, Depression, Irritability, Dementia, Memory impairment OMIM:123400
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... OMIM:619191
Ethanolaminosis
Cardiomegaly OMIM:227150
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
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, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Manganese Poisoning
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... ORPHA:306682
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Polymyoclonus, Infantile
Irritability, Ataxia OMIM:263550
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Dementia, Gait disturbance, Dysphagia OMIM:607674
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, Restlessness OMIM:610003
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Spinocerebellar Ataxia 14
Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Attention deficit hyperactivit... OMIM:605361
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Frontotemporal Dementia
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... OMIM:600274
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Perry Syndrome
Akinesia, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Short stepp... OMIM:168605
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Impulsivity, Irritability, Dementia, Memory impairment, Delirium OMIM:614116
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... OMIM:617106
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Intellectual Developmental Disorder, Autosomal Recessive 6
Impaired social interactions OMIM:611092
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan... ORPHA:240094
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure ORPHA:140927
Spinocerebellar Ataxia Type 21
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... ORPHA:263516
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... ORPHA:248111
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Gait ataxia, Depression, Irritability, Dysphagia, Mental deterioration OMIM:618093
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Yoon-Bellen Neurodevelopmental Syndrome
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... OMIM:619701
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Dementia, Akinesia, Aggressive behavior OMIM:300894
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... ORPHA:411602
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Situs inversus totalis, Asplenia, Hypertrophic cardiomyopathy, Aortic valve stenosi... OMIM:615415
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Corticobasal Syndrome
Memory impairment, Dementia, Gait disturbance, Akinesia ORPHA:454887
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Parkinson Disease 17
Akinesia OMIM:614203
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Mitr... OMIM:612561
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Flexion contracture, Neutropenia, Anem... OMIM:617303
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Impulsivity, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai... ORPHA:240071
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Susac Syndrome
Abnormal emotion, Confusion, Cognitive impairment, Gait ataxia ORPHA:838
Marchiafava-Bignami Disease
Ataxia, Confusion, Aggressive behavior, Gait ataxia, Depression, Dementia, Gait disturbance, Abno... ORPHA:221074
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... ORPHA:251004
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... OMIM:612562
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... ORPHA:247234
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Kaposiform Lymphangiomatosis
Pericardial effusion, Fractures of the long bones, Splenomegaly, Thrombocytopenia, Osteolysis, He... ORPHA:464329
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome OMIM:269920
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia OMIM:606693
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:609454
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Akinesia OMIM:616840
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Neutropenia, Focal ... OMIM:232220
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... ORPHA:268947
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Asplenia, Ureteral atres... OMIM:208540
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... OMIM:612164
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contr... ORPHA:505248
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... OMIM:232200
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... OMIM:276700
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Narcolepsy 3
Narcolepsy OMIM:609039
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Heparan sulfate excretion in urine, As... OMIM:252920
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus ORPHA:561854
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Cardiac-Urogenital Syndrome
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Penoscrotal hypospadias, Ventricu... OMIM:618280
Postencephalitic Parkinsonism
Abnormal aggressive, impulsive or violent behavior, Dysphagia, Akinesia, Depression ORPHA:97349
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure OMIM:617166
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure OMIM:617493
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone formation, Splenic... OMIM:618188
Congenital Myopathy 9A
Akinesia OMIM:618822
H Syndrome
Recurrent fractures, Abnormality of the kidney, Microcytic anemia, Osteolysis, Hepatosplenomegaly... ORPHA:168569
Supranuclear Palsy, Progressive, 1
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:601104
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean cor... OMIM:185000
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Proteinuria, Chronic neutropenia, Osteoporosis, Stage 5 chronic kidney ... ORPHA:79259
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:619827
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... OMIM:613839
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Craniosynostosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia OMIM:618886
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Narcolepsy 1
Narcolepsy OMIM:161400
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Limited elbow mov... OMIM:300280
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Increas... ORPHA:2169
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Congenital Myopathy 8
Cardiomegaly OMIM:618654
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitation of joint mobil... OMIM:252500
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:464282
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Thicke... OMIM:253250
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Ventricular septal defect, Hypospadias, Cardiomegaly, Multiple pren... OMIM:616897
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus OMIM:607876
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Cln3 Disease
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure ORPHA:228346
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Aceruloplasminemia
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Memory impairment ORPHA:48818
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney, Rheumatoid arthritis ORPHA:79128
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Diamond-Blackfan Anemia
Acute myeloid leukemia, Renal agenesis, Ventricular septal defect, Hypospadias, Pure red cell apl... ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyopathy OMIM:235200
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin d... ORPHA:449395
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
Narcolepsy 7
Narcolepsy OMIM:614250
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... OMIM:239850
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Immunodeficiency 96
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... OMIM:619774
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... ORPHA:116
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Shwachman-Diamond Syndrome
Osteopenia, Hepatomegaly, Normocytic anemia, Osteomyelitis, Aplastic anemia, Transient neutropeni... ORPHA:811
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Distal... ORPHA:42
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus OMIM:220120
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Thrombocyto... ORPHA:731
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:79243
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... OMIM:610042
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:544503
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus ORPHA:254881
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Gaucher Disease, Perinatal Lethal
Dysphagia, Akinesia, Progressive neurologic deterioration OMIM:608013
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... ORPHA:324410
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morpholog... OMIM:615873
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets OMIM:208000
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... ORPHA:480864
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia OMIM:277410
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... ORPHA:363705
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... OMIM:619580
Congenital Myopathy 12
Akinesia OMIM:612540
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Cardiomyopath... ORPHA:465508
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:616672
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... OMIM:201475
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... OMIM:127550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... ORPHA:391428
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617281
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Beck-Fahrner Syndrome
Ventricular septal defect, Joint hypermobility, Cardiomegaly OMIM:618798
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... OMIM:312870
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Cardiomegaly OMIM:613320
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:481152
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Cardiomegaly, Limited knee flexion/extension, Pollakisuria, Limited hip m... ORPHA:268
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure OMIM:615398
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Recurrent fractures, Joint hypermobility, Craniosynostosis, Ca... OMIM:245600
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Increased mean corpuscular v... ORPHA:261250
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly ORPHA:1517
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:617193
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Lethal Congenital Contracture Syndrome 10
Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Hypoplasia of the thymus OMIM:617022
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... OMIM:618143
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Cardiomegaly, Joint hypermobility, Abnormal bone ossification ORPHA:2463
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
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
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis OMIM:614921
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Glycopepti... OMIM:230000
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Heparan sul... ORPHA:581
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:496641
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
African Trypanosomiasis
Akinesia, Aggressive behavior, Choreoathetosis, Irritability, Gait disturbance, Difficulty walkin... ORPHA:3385
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Hypochromic microcytic anemia, Aort... ORPHA:97214
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia ORPHA:14
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Intellectual Developmental Disorder, Autosomal Dominant 54
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617799
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus ORPHA:79139
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Congenital Tracheomalacia
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous... ORPHA:95430
Melas
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Bohring-Opitz Syndrome
Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow flex... ORPHA:97297
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Alternating Hemiplegia Of Childhood
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus ORPHA:2131
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial... ORPHA:904
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163681
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:255210
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Flexion contracture, Osteoporosis, Oligosacchariduria, Left ventricul... ORPHA:365
Lujo Hemorrhagic Fever
Seizure, Bilateral tonic-clonic seizure ORPHA:319213
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Liver Disease, Severe Congenital
Joint laxity, Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left a... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomeg... OMIM:300967
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure OMIM:610505
Aicardi-Goutières Syndrome
Multiple joint contractures, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomega... ORPHA:51
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Cardiomegaly, Pericardial effusion, Myo... ORPHA:51608
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure OMIM:301044
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:280000
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Microcytic anemia, Splenomegaly, Flexion con... OMIM:256040
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Hypospadias, Cardiomegaly, Tetralogy of F... ORPHA:3472
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... ORPHA:459070
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363958
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:620330
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:614756
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920

Histopathology

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

There is no histopathology data for Fosb

IMPC related publications

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

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Fos ensembles encode and shape stable spatial maps in the hippocampus. Nature (August 2022) Fosbtm1c(KOMP)Wtsi PMC9452297
Bidirectional perisomatic inhibitory plasticity of a Fos neuronal network. Nature (December 2020) Fosbtm1c(KOMP)Wtsi PMC7864877
AP-1 Transcription Factors and the BAF Complex Mediate Signal-Dependent Enhancer Selection. Molecular cell (December 2017) Fosbtm1c(KOMP)Wtsi Fosbtm1a(KOMP)Wtsi 29272704

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fosbtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Fosbtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fosbtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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