Gene Summary

Name:
histone deacetylase 4
Synonyms:
4932408F19Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
no spontaneous movement Hdac4em1(IMPC)Ccpcz HOM E18.5 0.00
increased circulating alkaline phosphatase level Hdac4em1(IMPC)Ccpcz HET Early adult 6.72×10-06
increased NK cell number Hdac4em1(IMPC)Ccpcz HET Early adult 8.09×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Human diseases caused by Hdac4 mutations

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

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

The table below shows human diseases associated to Hdac4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Scoliosis, Dislocation of the femoral head, Kyphosis, Co... OMIM:619797
2Q37 Microdeletion Syndrome
Seizure, Compulsive behaviors, Obesity, Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1001

The table below shows human diseases predicted to be associated to Hdac4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se... OMIM:617113
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Broad-based gait, Focal moto... OMIM:617665
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Recurrent hand... OMIM:618141
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Truncal ataxia, Absence seizure with eyelid myoclonia, Tremor, Bilateral tonic-clonic seizure, Ga... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:619970
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Hyperactivity, Bilateral tonic-clonic ... ORPHA:2382
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Generalized myoclonic seizur... ORPHA:36387
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Torsion dystonia, Seizure, Dystonia, Ataxia, Choreoathet... ORPHA:98811
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxi... OMIM:620145
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Paroxysmal dystonia, Focal sensory seizure, Infantile spasms, Generalized-on... OMIM:602066
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-clonic seizure,... OMIM:617836
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dystonia, Dysphagia, Status epilepticus OMIM:620448
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Obesity, Motor stereotypy OMIM:613886
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:615744
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Seizure, Tonic seizure, Atypical absence seizure OMIM:617771
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, Torticollis, Bilateral tonic-clonic seizure OMIM:612621
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Tremor, Bilateral tonic-clonic seizur... OMIM:617810
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, Seizure, Infantile sp... OMIM:620540
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Bilateral tonic-clonic seizure, Aggr... OMIM:619639
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:608105
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hyperactivity, Focal motor sei... ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Athetosis, Bilateral tonic-clonic seizure,... ORPHA:382
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Aggressive behavior, Bilateral tonic-clonic... OMIM:612691
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure OMIM:601068
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Oc... ORPHA:208447
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilept... OMIM:618924
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Hyperactivity, Bilate... OMIM:619913
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Kleeblattschaedel
Hydrocephalus, Craniosynostosis, Cloverleaf skull, Elbow ankylosis OMIM:148800
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Sagittal craniosynostosis OMIM:123155
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Dravet Syndrome
Obsessive-compulsive trait, Epilepsia partialis continua, Generalized clonic seizure, Focal-onset... ORPHA:33069
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Aggressive behavior ORPHA:329249
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Tremor, Bilateral tonic-clonic seizure, Dystonia, Ataxia OMIM:618425
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Stereotypical h... OMIM:619854
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:619616
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Frontal bossing, Widen... OMIM:146000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Tremor, Tonic seizure, Bilateral... OMIM:618090
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Dysto... OMIM:617389
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Generalized-on... ORPHA:35878
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Attention deficit hyperacti... ORPHA:1945
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:617171
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... OMIM:617600
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Brachydactyly, Left unicoronal synostosis, Hal... OMIM:615314
Aurocephalosyndactyly
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Obesity Due To Sim1 Deficiency
Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit hyperactivity dis... ORPHA:369873
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inability to walk, Oculog... ORPHA:330050
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Hyperactivity, Seizure, I... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Polyphagia, Obesity, Focal impaired awareness seizure, S... OMIM:616521
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperact... OMIM:619191
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v... OMIM:601370
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Focal... OMIM:617904
Developmental And Epileptic Encephalopathy 42
Tremor, Focal tonic seizure, Athetosis, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic ... OMIM:617106
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure, Aggressive behavior OMIM:247100
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intentio... OMIM:620453
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se... ORPHA:101070
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Restlessness, Bilateral tonic-clonic seizure OMIM:610003
Huntington Disease
Irritability, Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Memory impairment,... ORPHA:399
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Experiential epileptic aura, Seizure, Athetosis, Focal impaired awareness au... ORPHA:31709
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Atte... OMIM:617935
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr... OMIM:614416
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:162350
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia... OMIM:617862
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
L-Ferritin Deficiency
Restless legs, Generalized-onset seizure OMIM:615604
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616341
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Hypophosphatasia, Childhood
Frontal bossing, Rachitic rosary, Dolichocephaly, Craniosynostosis, Bowing of the legs OMIM:241510
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dy... OMIM:616139
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Focal sensory seizure, Seizure, Athetosis, Dystonia ORPHA:98809
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Intention tremo... OMIM:618170
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... ORPHA:1942
Leptin Receptor Deficiency
Emotional lability, Polyphagia, Obesity, Abnormal eating behavior, Aggressive behavior OMIM:614963
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Failure to thrive, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Dystonia, Ataxia, Myoclonus, Failure to thrive in infancy OMIM:619065
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Toe s... ORPHA:380
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Myoclonic absence seizure, Tremor, Generalized-onset seizure, Recurre... ORPHA:544254
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Compulsive behaviors, Tonic seizure, Bilateral tonic-clon... OMIM:618917
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia OMIM:618406
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Myo... OMIM:616540
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Difficulty walking, Ataxia OMIM:618242
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Bruxism, Seizure, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:618497
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Status epilepticus, Choreoathetosis OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Status epilepticus withou... OMIM:204300
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Intervertebral space narrowing, Irregular epiphyses of the ... OMIM:614078
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Trigonocephaly, Syndactyly, Umbilical hernia, Craniosynostosis, Abnormal calvaria mo... OMIM:175700
Obesity And Hypopigmentation
Obesity, Polyphagia OMIM:620195
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:309530
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Turricephaly, Hydrocephalus, Thin ribs, Narrow iliac win... OMIM:616294
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Summitt Syndrome
Short 4th metacarpal, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk calcification, Flat capit... OMIM:614135
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Turricephaly, Finger syndactyly, Cloverleaf skull, Post... ORPHA:65759
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Clinodactyly of the 5th finger, Craniosynostosis, Hydrocephalus, Frontal bossing, ... ORPHA:1516
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Polyphagia, Impulsivity, Short attention span, Attention deficit hyperactivit... OMIM:615538
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Hydrocephalus, Scoliosi... OMIM:112240
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Scoliosis... OMIM:618736
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Spinocerebellar Ataxia 48
Cachexia, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, Ataxia, Dysphagia, Dysme... OMIM:618093
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Atonic seizure, Mot... ORPHA:411986
Pyridoxine-Dependent Epilepsy
Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Seizure, Focal aware motor seizure... ORPHA:3006
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, S... OMIM:619701
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Scoliosis, Clubbing, Arthropathy, Thoracolumbar scoliosis, Craniosynostosis, Hip dislocation, Sca... OMIM:618523
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Clinodactyly of the 5th finger, Scoliosis, Ovoid vertebral bodies, Syndactyl... OMIM:619451
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Choreoathetosis ORPHA:53583
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Craniosynostosis 2
Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Me... OMIM:604757
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Generalized myoclonic seizure, Focal-onset seizure, Typical absence s... ORPHA:168491
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, Unsteady gait, Dysmetria OMIM:203740
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughter ORPHA:411515
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Pr... ORPHA:1515
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus, Dystonia, Ataxia OMIM:618729
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Attention def... ORPHA:64280
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Frontal bossing, Craniosynostosis ORPHA:1528
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Aggressive behavior ORPHA:261229
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Decreased body weight, Bilateral tonic-clonic seizure, Failure to... OMIM:614559
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, F... OMIM:604317
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Focal emotional seizure with laughing, Bilateral tonic-clonic... ORPHA:293181
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Abnormal calvaria morphology, Epiphyseal stippling, Bowing of the lon... ORPHA:1952
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se... OMIM:601764
Cerebral Creatine Deficiency Syndrome 2
Seizure, Tremor, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 month... OMIM:612736
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia OMIM:614962
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Focal motor seizure, Seizure, Freezing of gait, Bilateral tonic-clonic ... OMIM:619911
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Trigonocephaly, Small anterior fonta... OMIM:314320
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Hyperlordosis, Short long bone,... ORPHA:457395
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Thin ribs, Decreased calvarial ossification, Trigonocephaly, Br... OMIM:618265
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Gait disturbance, Myoclonus, Choreoathetosis... OMIM:616981
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Scol... ORPHA:1520
Graves Disease
Hyperactivity, Irritability, Polyphagia, Weight loss OMIM:275000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Foxg1 Syndrome
Focal-onset seizure, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Decreased ... ORPHA:561854
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized myoclonic seizure, Focal-onset seizure, Inability to walk, Seizure, Generalized-onset... OMIM:617188
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebral clefting, Dec... OMIM:241500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Chronic Hiccup
Depression, Abnormal eating behavior, Weight loss ORPHA:396
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Craniosynostosis, Small epiphyses, S... OMIM:616723
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ... OMIM:603546
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Enlarged Parietal Foramina
Occipital encephalocele, Short clavicles, Parietal foramina, Myelomeningocele, Broad thumb, Crani... ORPHA:60015
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abnormal intervertebral disk m... ORPHA:2635
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Resting tremor, Bilateral tonic-clonic seizure, Intention tremor, Dystonia, A... OMIM:619725
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei... OMIM:617976
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia OMIM:620317
Hypophosphatasia
Abnormal metaphysis morphology, Large fontanelles, Bowing of the long bones, Abnormal rib morphol... ORPHA:436
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms, Ataxia, Atten... ORPHA:467166
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis, Scoliosis OMIM:618906
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, Trigonocephaly, Small anterior fontanelle, Metopic suture paten... ORPHA:3369
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure, Motor tics OMIM:620688
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Seizure, Bilateral tonic-clonic seizure, Gait disturbance, Action tremor, Impaired tandem ... OMIM:300423
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Dystonia, Ataxia, Inability to walk OMIM:617183
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Scoliosis, Ulnar deviation of the wrist, Unilambdoid... OMIM:618577
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:98795
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebellar ataxia, Bilater... ORPHA:263516
Hartsfield Syndrome
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Craniosynos... ORPHA:2117
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Frontotemporal dementia, Memory impairment, Polyphagia, Progressive language deteriora... OMIM:607485
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystonia OMIM:619301
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seizure, Bilateral... OMIM:619827
Greenberg Dysplasia
Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... ORPHA:1426
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71526
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Dystonia, Atax... OMIM:614487
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Myocloni... OMIM:620166
Muenke Syndrome
Brachycephaly, Plagiocephaly, Radial deviation of finger, Cone-shaped epiphyses of the phalanges ... OMIM:602849
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Metopic synostosis, Lumbar hemivertebrae OMIM:190440
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Craniotelencephalic Dysplasia
Frontal encephalocele, Craniosynostosis OMIM:218670
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, Narrow pelvis bone... ORPHA:66637
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyl... ORPHA:2145
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure, Failure to thrive, Dystonia, Ataxia, Choreoathetosis OMIM:616034
Satb2-Associated Syndrome Due To A Pathogenic Variant
Attention deficit hyperactivity disorder, Typical absence seizure, Seizure, Dysphagia ORPHA:576283
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Infantile ... OMIM:300912
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Stereotypical hand wringing... ORPHA:289266
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... ORPHA:140927
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystonia OMIM:619302
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
16P13.11 Microduplication Syndrome
Arachnodactyly, Hand polydactyly, Dolichocephaly, Joint hypermobility, Craniosynostosis ORPHA:261243
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera... OMIM:619881
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Large fontanelles, Turricephaly, Hydrocephalus, Bowing of the long bones, Umbilica... ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilepticus, Focal impaired awareness s... OMIM:613970
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Athetosis, Bilateral tonic-clonic seizure, Dystonia, Dysphagia, Self-injurious ... OMIM:617493
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Hyperac... ORPHA:1934
Cdags Syndrome
Brachycephaly, Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Parietal foramina... OMIM:603116
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Larsen Syndrome
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Scoliosis, Vertebral... ORPHA:503
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response ORPHA:163985
Angelman Syndrome
Generalized myoclonic seizure, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivi... ORPHA:72
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Sandwich appearance of vertebral bodies,... OMIM:259700
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Osteoglosphonic Dysplasia
Abnormal bone ossification, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly, Cran... ORPHA:2645
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Choreoathetosis ORPHA:726
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Holop... ORPHA:2163
Antley-Bixler Syndrome
Brachycephaly, Turricephaly, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphol... ORPHA:83
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Cranio... OMIM:178110
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Bilateral tonic-clonic seizure, Gait disturbance, Action tremor, Obesity, Aton... ORPHA:93952
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Limb dystonia, Myoclonic seizure, Atonic seizure, Dysphagia, Myoclonus, Moto... OMIM:616973
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Hydrocephalus, Short foot, Coronal craniosynosto... ORPHA:53271
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Failure to thrive, Ataxia OMIM:617201
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, S... OMIM:252600
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hyperprolinemia Type 2
Seizure, Generalized-onset seizure, Early onset absence seizures, Atonic seizure, Febrile seizure... ORPHA:79101
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity, Bilateral tonic-clonic seizure OMIM:240900
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Agitation, Focal myoclonic s... OMIM:619229
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Decreased body weight, Tonic... OMIM:300260
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Spinocerebellar Ataxia Type 10
Progressive cerebellar ataxia, Gait imbalance, Focal motor seizure, Generalized-onset seizure, Dy... ORPHA:98761
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Bruxism, Focal impaired awareness hemiclonic seizure OMIM:620149
Acrocraniofacial Dysostosis
Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Spina bifida occulta, Abnormal f... ORPHA:949
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Focal myoclonic seizure, Difficulty walking, Seizure, Waddling gai... ORPHA:464282
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis, Epiphyseal dysplasia, Metaphyseal dysplasia OMIM:614732
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness OMIM:620439
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia OMIM:226750
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Knee disloca... OMIM:245600
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Seizur... ORPHA:457351
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Robinow-Sorauf Syndrome
Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica... OMIM:180750
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Agitation, Focal-onset seizure, Inability to walk, Tonic seizure, Bilateral tonic-cl... OMIM:617166
Pfeiffer Syndrome Type 1
Brachycephaly, Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short ... ORPHA:93258
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic s... OMIM:618012
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Athetosi... ORPHA:79351
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Join... ORPHA:93352
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Dystonia, Atax... ORPHA:313772
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Bilateral tonic-clonic seizure, Gait disturbance, C... ORPHA:275864
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Flared metaphysis, Squared iliac bones, Short ribs, Ad... OMIM:215045
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma... ORPHA:3344
Prognathism, Mandibular
Craniosynostosis OMIM:176700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Arachnodactyly, Slender long bones with narrow diaphy... ORPHA:536467
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Atypical absence s... ORPHA:95232
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Craniosynostosis, Oligodactyly, Missing ribs, Forearm undergrowth, Humerorad... OMIM:251230
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Status epilepti... ORPHA:529665
Crouzon Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing, Ab... ORPHA:207
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Brachycephaly, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Wide... OMIM:207410
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Polyarticular arthritis, ... ORPHA:289176
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276556
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Brachyturricephaly, Arachnodactyly, Umbilical hernia, Joint hypermobility... OMIM:182212
Multiple Epiphyseal Dysplasia Type 5
Avascular necrosis of the capital femoral epiphysis, Genu valgum, Intervertebral disk degeneratio... ORPHA:93311
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Pterygium, Elbow dislocation, Frontal ... ORPHA:93329
Marshall-Smith Syndrome
Reduced bone mineral density, Slender long bone, Scoliosis, Bowing of the long bones, Joint hyper... ORPHA:561
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Polyphagia ORPHA:324575
Temple Syndrome
Small for gestational age, Obesity, Polyphagia ORPHA:254516
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia OMIM:615986
9Q21.13 Microdeletion Syndrome
Polydactyly, Scoliosis, Vertebral segmentation defect, Hip dysplasia, Craniosynostosis ORPHA:531151
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Polyphagia, Compulsive behaviors, Obesi... OMIM:612469
Ollier Disease
Abnormal metaphysis morphology, Platyspondyly, Joint stiffness, Abnormal cartilage morphology, Mu... ORPHA:296
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Hyperactivity, Inappropriate... ORPHA:363686
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Slender finger, Dolichocephaly, Cutaneous syndactyly of toes, Umbili... ORPHA:2872
Pycnodysostosis
Short finger, Spondylolysis, Spondylolisthesis, Generalized osteosclerosis, Increased bone minera... ORPHA:763
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... OMIM:101600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tongue thrusting, Recurrent hand flapping, Bilateral tonic-cl... OMIM:619580
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Craniosynostosis, Limb joint contracture, Knee flexion contracture, Sh... ORPHA:284417
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276575
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thri... OMIM:615802
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Hyperekplexia 3
Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus OMIM:614618
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Trigonocephaly, Bullet-shaped phalanges... OMIM:252500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Paroxysmal dystonia, Bilateral tonic-clonic seizu... ORPHA:98784
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Agitation, Polyphagia ORPHA:276580
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Craniosynostosis, Frontal bossing ORPHA:314575
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form ... ORPHA:794
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Decreased calvarial ossificati... OMIM:614592
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansynostosis, Metop... OMIM:600775
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss... OMIM:123500
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Aplasia/hypoplasia involving bones of... ORPHA:356961
Apert Syndrome
Limited elbow movement, Brachyturricephaly, Broad thumb, Syndactyly, Craniosynostosis, Hydrocepha... OMIM:101200
Shprintzen-Goldberg Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal form of the vertebral bodies, S... ORPHA:2462
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Wormian bones, Craniosynostosis, Skull asymm... OMIM:601853
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...