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Gene: Hdac4 MGI:3036234

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Gene Summary

Name:
histone deacetylase 4
Synonyms:
4932408F19Rik

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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
no spontaneous movement Hdac4em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal behavior Hdac4em1(IMPC)Ccpcz HET   Early adult 7.48×10-05
increased NK cell number Hdac4em1(IMPC)Ccpcz HET Early adult 8.09×10-05
increased circulating alkaline phosphatase level Hdac4em1(IMPC)Ccpcz HET Early adult 1.94×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Hind Leg and Hip

32 Images

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XRay Images Skull Lateral Orientation

16 Images

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XRay Images Whole Body Dorso Ventral

32 Images

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XRay Images Forepaw

16 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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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
Scoliosis, Congenital hip dislocation, Dislocation of the femoral head, Kyphosis, Delayed closure... OMIM:619797
2Q37 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Obesity ORPHA:1001

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... OMIM:617831
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Status epilepticus, Focal-onset seizure, F... OMIM:300088
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Myoclonic seizure, Attention deficit hyperactivity disorder, Tremor, At... OMIM:616421
Epilepsy, Progressive Myoclonic, 6
Myoclonic status epilepticus, Ataxia, Difficulty walking, Loss of ambulation, Bilateral tonic-clo... OMIM:614018
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Hyperactivity, Ataxia, Myoclonic seizure, Attention deficit hyperactivity disor... OMIM:617113
Developmental And Epileptic Encephalopathy 74
Infantile spasms, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral t... OMIM:618396
Epilepsy, Familial Temporal Lobe, 1
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... OMIM:600512
Perioral Myoclonia With Absences
Focal seizure with eyelid myoclonia, Falls, Bilateral tonic-clonic seizure, Generalized myoclonic... ORPHA:139426
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Focal-onset seizure, Ataxia, Myoclonic seizure, Clonic seizure, Febrile seizu... OMIM:615871
Dravet Syndrome
Generalized clonic seizure, Status epilepticus, Ataxia, Myoclonic seizure, Focal hemiclonic seizu... OMIM:607208
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Myoclonic seizure, Broad-based gait, Attention deficit hyperactivity disorde... OMIM:619157
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gait at... OMIM:618587
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Abnormal eating behavior, Focal-onset seizure, Hy... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Genera... OMIM:618141
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Dementia, Frontal lobe dementia, Irritability, Frontotemporal ... OMIM:600274
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Status epilepticus, Generalized non-motor (absence) seizure, Bilateral t... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months ... OMIM:604403
Developmental And Epileptic Encephalopathy 31A
Inability to walk, Difficulty walking, Myoclonic seizure, Focal impaired awareness seizure, Tonic... OMIM:616346
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Focal impaired awar... OMIM:616172
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Ataxia, Myoclonic seizure, Focal motor seizure, Attention deficit hyperactivi... OMIM:617665
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized non-motor (absence) seizure, Generalized... OMIM:607631
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Focal-onset seizure, Focal clonic seizure, Focal hemiclonic seizure, F... ORPHA:725
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:616685
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Frontotemporal dementia, Irritability, Emotional blunting, Dim... OMIM:172700
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizu... OMIM:616056
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure,... OMIM:615369
Lennox-Gastaut Syndrome
Focal-onset seizure, Hyperactivity, Falls, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:2382
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Clonic seizure, Agitation, Focal impaired awareness seizure, Tonic seizure, Epilep... OMIM:619970
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware cognitive seizure with forced thinki... OMIM:616461
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, ... ORPHA:306
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia ORPHA:22
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:620145
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613863
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 33
Unsteady gait, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Typical absenc... OMIM:616409
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-mo... OMIM:604233
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Seizure, Generalized non-motor (absence) s... OMIM:609446
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized clonic seizure, Hyperactivity,... ORPHA:98818
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:613060
Episodic Ataxia, Type 5
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... OMIM:613855
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Seizure, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Dyst... ORPHA:98811
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,... OMIM:617836
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Infantile spasms, Focal-onset seizure, Generalized-onset seizure, Paroxysmal choreoathetosis, Foc... OMIM:602066
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:609800
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Focal-onset seizure, Ataxia, Generalized-onset seizure, Febrile seizure (with... ORPHA:36387
Developmental And Epileptic Encephalopathy 54
Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptom... OMIM:617391
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Lissencephaly 10
Torticollis, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized-onse... OMIM:618873
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Myoclonus OMIM:616187
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Eyelid myoclonus, Inabilit... ORPHA:2590
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Focal-onset seizure, Inability to walk, Ataxia, Myoclonic seizure, Foc... OMIM:619317
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity di... ORPHA:86909
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Depression, Negative affectivity, Aggressive behavior ORPHA:468726
Juvenile Myoclonic Epilepsy
Status epilepticus, Generalized-onset seizure, Febrile seizure (within the age range of 3 months ... ORPHA:307
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal... OMIM:614417
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 yea... OMIM:617350
Developmental And Epileptic Encephalopathy 57
Tonic seizure, Epileptic spasm, Generalized myoclonic seizure, Seizure, Atypical absence seizure OMIM:617771
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Developmental And Epileptic Encephalopathy 19
Status epilepticus, Myoclonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gai... OMIM:617810
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:245570
Developmental And Epileptic Encephalopathy 15
Focal clonic seizure, Inability to walk, Myoclonic seizure, Tonic seizure, Epileptic spasm, Bilat... OMIM:615006
Developmental And Epileptic Encephalopathy 13
Generalized clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Foca... OMIM:614558
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Focal motor seizure, Bilateral tonic-clonic seizure, Writer's cramp, Focal hemifacia... OMIM:608105
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Craniosynostosis, Adelaide Type
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... OMIM:600593
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Bilateral tonic-clonic seizure, Tremor, Myoclonus OMIM:613608
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Focal-onset seizure, Ataxia, Impaired tandem gait, Febrile seizure (within the age r... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia OMIM:104290
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Slender build, Ataxia OMIM:617709
Kleeblattschaedel
Craniosynostosis, Cloverleaf skull, Elbow ankylosis, Hydrocephalus OMIM:148800
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Episo... OMIM:618924
Developmental And Epileptic Encephalopathy 103
Eyelid myoclonus, Hyperactivity, Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Ton... OMIM:619913
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:605751
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... OMIM:185900
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, Myoclonus ORPHA:86814
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia OMIM:618425
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Hyperactivity, Tonic seizure, Bilateral tonic-clonic seizure... OMIM:618090
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure... OMIM:619616
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi... ORPHA:35878
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:619639
Bilateral Generalized Polymicrogyria
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Generalized-onset se... ORPHA:208447
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... ORPHA:101046
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Focal hemiclonic seizure, Focal impair... OMIM:619606
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure, Convu... OMIM:617389
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... OMIM:619191
Developmental And Epileptic Encephalopathy 91
Status epilepticus, Unsteady gait, Myoclonic seizure, Focal motor seizure, Tonic seizure, Bilater... OMIM:617711
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic ... OMIM:271980
Aurocephalosyndactyly
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generali... ORPHA:382
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valg... OMIM:601370
Craniosynostosis 3
Bicoronal synostosis, Left unicoronal synostosis, Hallux valgus, Right unicoronal synostosis, Sag... OMIM:615314
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal-onset seizure, Inability to walk, Difficulty walking, Focal impaired aw... ORPHA:330050
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus... OMIM:616230
Huntington Disease
Polyphagia, Decreased body mass index, Suicidal ideation, Apathy, Agitation, Disinhibition, Alcoh... ORPHA:399
Symphalangism, Distal
Craniosynostosis, Distal foot symphalangism, Absent dorsal skin creases over affected joints, Dis... OMIM:185700
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Dravet Syndrome
Generalized clonic seizure, Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (withi... ORPHA:33069
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal seizure with eyelid ... ORPHA:139431
Rolandic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Febrile seizure (within the... ORPHA:1945
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Dolichocephaly, Orbital craniosynostosis, Hydrocephalus ORPHA:1538
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619000
Huntington Disease-Like 1
Unsteady gait, Restlessness, Anxiety, Dementia, Aggressive behavior, Depression, Dysmetria OMIM:603218
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Oligodactyly, Brachycephaly, Occipital encephalocele, Humeroradial synostosis, ... OMIM:614416
Developmental And Epileptic Encephalopathy 42
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cloni... OMIM:617106
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:101070
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-mot... OMIM:619338
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Restlessness OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:604352
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Hyperactivity, Ataxia... ORPHA:1942
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Focal impaired awareness seizure, Attention deficit hyperact... OMIM:617935
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Irritability, Memory impairment, Bradyk... OMIM:606438
Greig Cephalopolysyndactyly Syndrome
Trigonocephaly, 1-3 toe syndactyly, Preaxial foot polydactyly, Broad thumb, Dolichocephaly, Preax... OMIM:175700
Craniosynostosis 6
Craniosynostosis, Bicoronal synostosis, Plagiocephaly, Scoliosis, Brachycephaly, Turricephaly, Ri... OMIM:616602
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Thickened calvaria, Brachycephaly ORPHA:178377
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:162350
Craniosynostosis 1
Craniosynostosis, Biparietal narrowing, Right unicoronal synostosis, Oxycephaly, Prominent occipu... OMIM:123100
Leptin Receptor Deficiency
Polyphagia, Abnormal eating behavior, Emotional lability, Aggressive behavior, Obesity OMIM:614963
Developmental And Epileptic Encephalopathy 27
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure, My... OMIM:616139
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Multifocal seizures, Bilateral tonic-clonic seizure, Seizure, Intention tremor, Generaliz... OMIM:618170
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure, Unsteady gait, Truncal ataxia OMIM:608636
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Athetosis, Seizure, Focal sensory seizure, Dystonia ORPHA:98809
Chorea, Benign Hereditary
Anxiety, Dementia, Gait disturbance OMIM:118700
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal sensory seizure with visual features, Focal aware seizure OMIM:611631
Hypophosphatasia, Childhood
Craniosynostosis, Rachitic rosary, Dolichocephaly, Frontal bossing, Bowing of the legs OMIM:241510
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior, Obesity ORPHA:329249
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to thrive OMIM:616281
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia OMIM:619065
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly,... ORPHA:380
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor ... OMIM:619854
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Bowing of the long bones, Vertebral wedging, ... ORPHA:40
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Focal impaired awareness seizure, Complex febrile seizure, Experiential epil... ORPHA:31709
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Myoclonic seizure, Focal impaired awareness seizure, Attention defi... OMIM:617600
Isolated Focal Cortical Dysplasia
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generaliz... ORPHA:65683
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure 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
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Focal clonic seizure, Inability to walk, Ataxia, Focal impaired awareness seizu... OMIM:617904
Mitochondrial Complex I Deficiency, Nuclear Type 12
Unsteady gait, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Ga... OMIM:301020
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Gait ataxia, Myoclonus OMIM:615362
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Clonic seizure OMIM:266100
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... OMIM:615476
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity OMIM:616521
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Action myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizu... OMIM:616540
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Abnormal epiphysis morph... ORPHA:2114
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Dystonia ORPHA:139406
Dystonia 11, Myoclonic
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression OMIM:159900
Osteomesopyknosis
Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... ORPHA:2777
Pseudoachondroplasia
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... ORPHA:750
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Dystonia 12
Emotional lability, Unsteady gait, Anxiety, Dysphagia, Bradykinesia, Depression OMIM:128235
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Focal impaired awa... ORPHA:485350
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Jackson-Weiss Syndrome
Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... OMIM:123150
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, Focal-onset seizu... OMIM:619605
Cole-Carpenter Syndrome 2
Coronal craniosynostosis, Hydrocephalus, Thin ribs, Kyphosis, Osteopenia, Wormian bones, Platyspo... OMIM:616294
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit h... OMIM:301008
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Choreoathetosis OMIM:609056
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Anxiety, Memory impairment, Bradykinesia, Mental deterioration, Neuromuscular dysp... ORPHA:240085
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Scoliosis, Reduced bone mineral density, Hydrocephalus, Communicating h... OMIM:112240
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Restlessness, Agitation, Bilateral tonic-clonic seizure, Seizure, Generalized non-... OMIM:300558
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m... OMIM:614078
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus without prominent... OMIM:204300
Obesity Due To Sim1 Deficiency
Polyphagia, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Ob... ORPHA:369873
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Hydrocephalus, Short neck, Umbilical hernia, Sacral dimple, Dolichocephaly, Fro... ORPHA:1516
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Agitation OMIM:617171
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Flat distal femoral epiphysis, Abnormality of the knee, Schmorl's ... OMIM:614135
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnorma... ORPHA:2790
Summitt Syndrome
Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Prominent metopic ridge, Finger syndact... ORPHA:3210
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:608096
Carpenter Syndrome
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Umbilical hernia, Finger syndactyly,... ORPHA:65759
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... ORPHA:412066
Pyridoxine-Dependent Epilepsy
Status epilepticus, Focal-onset seizure, Restlessness, Focal aware motor seizure, Epileptic spasm... ORPHA:3006
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Scoliosis, Brachycephaly, Flat occiput, Lambdoidal craniosynostosis, Delaye... OMIM:618736
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Myoclonic absence seizure, Gait disturbance, Ataxia, Generalized-onset ... ORPHA:544254
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Emotional lability, Bipolar affective disorder, Attention deficit hyperactivity disor... OMIM:615538
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Broad-based gait OMIM:617862
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Bilateral coxa valga, Abnormality of the knee, Abnormal ilium morphology, Platyspondyly, Restrict... ORPHA:163665
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Status epilepticus, Inability to walk, Ataxia, Bilateral tonic-clonic seizure, ... OMIM:619701
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Episodic ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia ORPHA:53583
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Scoliosis, Hip dislocation, Clubbing, Thoracolumbar scoliosis, Arthropathy, Sca... OMIM:618523
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Apathy, Agitation, Disinhibition, Frontotemporal dementia, Progressive language deter... OMIM:607485
Cutis Laxa, Autosomal Recessive, Type Iie
Craniosynostosis, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Genu varum, Ovoid vertebral b... OMIM:619451
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysphagia, Gait ataxia, Dystonia, Dysme... OMIM:618093
Oxoglutarate Dehydrogenase Deficiency
Unsteady gait, Falls, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, Dysmetria OMIM:203740
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Inability to walk, Focal impaired awareness seizure, Atonic seizure, Generalize... ORPHA:411986
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity OMIM:301076
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic sp... OMIM:618497
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia, Dystonia OMIM:618729
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Midface retrusion, Brachycephaly, Hydrocephalus OMIM:612247
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Bilateral tonic-clonic seizure, Ataxia OMIM:614322
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Unilateral Hemispheric Polymicrogyria
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seiz... ORPHA:101071
Cranioectodermal Dysplasia
Craniosynostosis, Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal diaphy... ORPHA:1515
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal impaired awarene... OMIM:619428
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Failure to thrive, Athetosis, Decrea... OMIM:614559
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Frontal bossing, Arrhinencephaly ORPHA:1528
Craniosynostosis 2
Craniosynostosis, Bicoronal synostosis, Brachycephaly, Trigonocephaly, Metopic synostosis, Wormia... OMIM:604757
Dysspondyloenchondromatosis
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Multiple enchondromatosis,... ORPHA:85198
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure, Resting tremor, Fr... OMIM:619911
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Failure to thrive OMIM:617082
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, ... OMIM:616981
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Premature posterior fontanelle closure, Trigonocephaly, Lambdoidal cra... OMIM:314320
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Bardet-Biedl Syndrome 22
Polyphagia, Large for gestational age, Obesity OMIM:617119
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Irritability, Weight loss OMIM:275000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Happy demeanor, Hyperactivity, Obesity ORPHA:411515
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Hump-shaped mound of bone ... ORPHA:93284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Plagiocephaly, Trigonocephaly, Thin ribs, Slender long bone, Decreased calvaria... OMIM:618265
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Abnormal cortical bone morpho... ORPHA:2635
Fibular Hemimelia
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Hypophosphatasia, Infantile
Craniosynostosis, Rachitic rosary, Short lower limbs, Metaphyseal cupping, Short ribs, Platyspond... OMIM:241500
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Scol... ORPHA:1520
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic s... ORPHA:98820
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Failure to thrive, Tremor, Seizure, Dysphagia OMIM:617162
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Ulnar deviation of the wrist, Scoliosis, Brachycephaly, Hydrocephalus, Midface ret... OMIM:618577
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis ORPHA:208441
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Limited elbow extension, Scoliosis, Narrow pelvis bone, Short neck, Thoracolumb... OMIM:616723
X-Linked Hypophosphatemia
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... ORPHA:89936
Intellectual Developmental Disorder, Autosomal Recessive 57
Focal-onset seizure, Inability to walk, Generalized-onset seizure, Febrile seizure (within the ag... OMIM:617188
Craniotelencephalic Dysplasia
Craniosynostosis, Arrhinencephaly, Frontal encephalocele OMIM:218670
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Gait... OMIM:254780
Tubulinopathy-Associated Dysgyria
Infantile spasms, Ataxia, Attention deficit hyperactivity disorder, Generalized non-motor (absenc... ORPHA:467166
Lafora Disease
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal s... ORPHA:501
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cl... OMIM:300607
Pontocerebellar Hypoplasia, Type 14
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Dystonia OMIM:619301
Hypophosphatasia
Craniosynostosis, Abnormal metaphysis morphology, Large fontanelles, Abnormal rib morphology, Rec... ORPHA:436
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Enlarged Parietal Foramina
Craniosynostosis, Myelomeningocele, Occipital encephalocele, Short clavicles, Broad thumb, Pariet... ORPHA:60015
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Anxiety, Dementia, Depression OMIM:605909
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Falls, Impaired tandem gait, Bilateral tonic-clonic seizure, Seizure, Action tr... OMIM:300423
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Multiple suture craniosynostosis, Trigonocephaly, Fifth finger distal ... ORPHA:3369
Harel-Yoon Syndrome
Ataxia, Generalized non-motor (absence) seizure, Inability to walk, Dystonia OMIM:617183
Developmental And Epileptic Encephalopathy 63
Inability to walk, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... OMIM:617976
Greenberg Dysplasia
Calvarial skull defect, Abnormal form of the vertebral bodies, Midface retrusion, Platyspondyly, ... ORPHA:1426
Muenke Syndrome
Clinodactyly, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Thimble-shaped middle phala... OMIM:602849
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Inability to walk, Gait disturbance, Myoclonic seizure, Ataxia, Hyperactivit... ORPHA:168491
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysdiadochokinesis, Spasti... OMIM:614487
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Split hand, Aplasia/Hypoplasia of the r... ORPHA:2117
Muscular Dystrophy, Congenital, With Or Without Seizures
Focal-onset seizure, Ataxia, Myoclonic seizure, Generalized-onset seizure, Loss of ambulation, Dy... OMIM:620166
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Abnormal metaphysis morphology, Fl... ORPHA:1306
Congenital Disorder Of Glycosylation, Type Iin
Craniosynostosis, Joint hypermobility, Osteopenia OMIM:616721
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... OMIM:612736
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Limb myoclonus, Progressive cerebellar ataxia, Febrile seizure (withi... ORPHA:263516
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Bilateral tonic-clonic seizure, Seizure precipitated by febrile infectio... ORPHA:363549
Trigonocephaly 1
Lumbar hemivertebrae, Trigonocephaly, Metopic synostosis, Craniosynostosis OMIM:190440
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Scoliosis, Osteopenia, Joint hypermobility, Recurrent fractures, Frontal bossing OMIM:147060
Cdags Syndrome
Coronal craniosynostosis, Brachycephaly, Short ribs, Large fontanelles, Kyphosis, Short clavicles... OMIM:603116
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Decreased body weight, Failure to thrive OMIM:620085
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Finger syndactyly, Abnormal rib morphology, Turricephaly, Split ... ORPHA:2145
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure, Broad-based gait, Inability to walk OMIM:618470
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Clonic seizure, Febrile seizure (within the age range of ... OMIM:618917
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Failure to thrive, Seiz... OMIM:604317
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Hydrocephalus, Femur fract... OMIM:259700
Childhood Absence Epilepsy
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:64280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Dysphagia,... ORPHA:98795
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure OMIM:611603
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility, Scoliosis OMIM:618906
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Brachycephaly, Hydrocephalus, Umbilical hernia, Large fontanelles, Toe syndacty... ORPHA:171839
Satb2-Associated Syndrome Due To A Pathogenic Variant
Dysphagia, Seizure, Attention deficit hyperactivity disorder, Typical absence seizure ORPHA:576283
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Seizure, Choreoathetosis, Dystonia OMIM:612716
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Dystonia OMIM:619302
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure with focal onset, Inability to walk, Focal motor status epilepticu... OMIM:619881
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Plagiocephaly, Short distal phalanx of finger, Brachycephaly, Hypoplastic verte... ORPHA:2163
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Dy... OMIM:613970
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Choreoathetosis ORPHA:726
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal-onset seizure, Gait ... ORPHA:352582
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, ... OMIM:252600
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Larsen Syndrome
Craniosynostosis, Short distal phalanx of finger, Scoliosis, Laryngotracheomalacia, Large joint d... ORPHA:503
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
16P13.11 Microduplication Syndrome
Craniosynostosis, Hand polydactyly, Dolichocephaly, Joint hyperflexibility, Arachnodactyly ORPHA:261243
Osteoglosphonic Dysplasia
Craniosynostosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal bone ossification, B... ORPHA:2645
Muenke Syndrome
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Carpal synostosis, Cone-sh... ORPHA:53271
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Epileptic spas... OMIM:612164
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Unsteady gait, Obesity, Bilateral tonic-clonic seizure, Aton... ORPHA:93952
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Arthrogryposis multiplex congenita,... OMIM:178110
Antley-Bixler Syndrome
Craniosynostosis, Elbow ankylosis, Camptodactyly of finger, Brachycephaly, Joint stiffness, Delay... ORPHA:83
Spinocerebellar Ataxia 29
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Focal impaired awareness sei... OMIM:117360
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit hyperacti... OMIM:618354
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive ORPHA:71526
Carpenter Syndrome 1
Scoliosis, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Toe... OMIM:201000
Periventricular Nodular Heterotopia 7
Infantile spasms, Ataxia, Failure to thrive, Seizure, Generalized non-motor (absence) seizure OMIM:617201
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Irritability, ... ORPHA:3077
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Infantile spasms, Focal-onset seizure, Hyperactivity, Febrile seizure... ORPHA:1934
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Large for gestational age, Obesity OMIM:240900
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Athetosis, Dy... OMIM:617493
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Perry Syndrome
Inappropriate behavior, Suicidal ideation, Apathy, Short stepped shuffling gait, Disinhibition, A... OMIM:168605
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Solitary Bone Cyst
Lytic defects of the radius, Pathologic fracture, Unicameral bone cyst, Abnormal ilium morphology... ORPHA:83468
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Brachycephaly, Hallux varus, Aqueductal stenosis, Finger syndactyly, Aplasi... ORPHA:93258
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Abnormality of the first metatarsal bone, Synostosis of joints, Spinal rigidity, A... ORPHA:337
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) ... OMIM:613839
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:226750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Craniosynostosis, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteopenia OMIM:614732
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic se... OMIM:619835
Acrocraniofacial Dysostosis
Craniosynostosis, Short distal phalanx of finger, Partial duplication of the distal phalanx of th... ORPHA:949
Developmental And Epileptic Encephalopathy 47
Status epilepticus, Limb ataxia, Focal-onset seizure, Inability to walk, Gait disturbance, Agitat... OMIM:617166
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Shoulder dislocation, Knee dis... OMIM:245600
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysdiadochokinesis, Dyspha... ORPHA:313772
Foxg1 Syndrome
Infantile spasms, Status epilepticus, Focal-onset seizure, Inability to walk, Difficulty walking,... ORPHA:561854
Crouzon Syndrome
Abnormal sacrum morphology, Multiple suture craniosynostosis, Brachycephaly, Hydrocephalus, Midfa... ORPHA:207
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Dystonia, Failure to thrive OMIM:618237
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Inability to walk, Ataxia, A... OMIM:619229
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Bilateral tonic-clonic seizure, Tremor, Myoclonus OMIM:607876
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Limited elbow extension, Scoliosis, Hip dislocation, Hip dysplasia, Ulnar deviation of finger, Hy... ORPHA:93359
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... ORPHA:168782
Developmental And Epileptic Encephalopathy 93
Infantile spasms, Focal-onset seizure, Inability to walk, Gait disturbance, Clonic seizure, Myocl... OMIM:618012
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Unsteady gait, Ataxia, Difficulty walking, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:464282
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Camptodactyly, Coronal craniosynostosis, Flexion contracture, Brachycephaly, Hydrocephalus, Wide ... OMIM:207410
Hyperprolinemia Type 2
Status epilepticus, Unsteady gait, Generalized-onset seizure, Febrile seizure (within the age ran... ORPHA:79101
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... OMIM:305620
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Hallux valgus, Broad thumb, Broad hallux, Pansynostosis, Duplica... OMIM:180750
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Focal-onset seizure, Febrile seizure (within the age range of 3 months... ORPHA:289266
Nicolaides-Baraitser Syndrome
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm ORPHA:3051
Intellectual Developmental Disorder, Autosomal Dominant 42
Infantile spasms, Limb dystonia, Status epilepticus, Focal-onset seizure, Inability to walk, Myoc... OMIM:616973
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Generalized myoclonic se... ORPHA:95232
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Failur... ORPHA:79351
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Large joint dislocations, Kypho... ORPHA:536467
Microcephaly-Micromelia Syndrome
Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Short neck, Missing ribs, Aqu... OMIM:251230
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Scoliosis, Abnormality of fibula mor... ORPHA:3344
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Squared-off platyspondyly, Metaphyseal irregularity, Bowing of the legs, Generalized b... ORPHA:93352
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Brachyturricephaly, Thin ribs, Dolichocephaly, Supernumerary ribs, Joint contracture o... OMIM:182212
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Gait disturbance, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclo... ORPHA:395
Spinocerebellar Ataxia Type 10
Status epilepticus, Kinetic tremor, Progressive cerebellar ataxia, Unsteady gait, Generalized-ons... ORPHA:98761
Pycnodysostosis
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Spondylolisthes... ORPHA:763
Wagro Syndrome
Polyphagia, Emotional lability, Agitation, Anxiety, Low frustration tolerance, Aggressive behavio... OMIM:612469
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Nocturnal seizu... OMIM:619725
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu varum, Abnormal hip joint morphology, Avascular necrosis of the capital femor... ORPHA:93311
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Marshall-Smith Syndrome
Craniosynostosis, Reduced bone mineral density, Scoliosis, Slender long bone, Increased susceptib... ORPHA:561
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Hip dysplasia, Polydactyly, Vertebral segmentation defect ORPHA:531151
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure, Hyperactivity OMIM:609924
Insulinoma
Polyphagia, Anxiety, Increased body weight, Transient global amnesia ORPHA:97279
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Short clavicles, Midface retrusion, Decreased calvarial ossification, B... OMIM:614592
Ollier Disease
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Multiple enchondromatosis, Platyspon... ORPHA:296
Angelman Syndrome
Polyphagia, Infantile spasms, Status epilepticus, Inability to walk, Hyperactivity, Ataxia, Gener... ORPHA:72
Autosomal Recessive Omodysplasia
Craniosynostosis, Abnormal metaphysis morphology, Abnormal morphology of the radius, Pterygium, H... ORPHA:93329
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Craniosynostosis 4
Bicoronal synostosis, Coronal craniosynostosis, Metopic synostosis, Midface retrusion, Lambdoidal... OMIM:600775
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Infantile spasms, Limb dystonia, Inability to walk, Bilateral tonic-clonic seizure, Generalized m... ORPHA:457351
Crouzon Syndrome
Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Midface retrusion, Lambdoidal craniosynos... OMIM:123500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Inability to walk, Ataxia, Tonic seizure, Dysphagia, Seizure, Generalized non... OMIM:300260
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Difficulty walking, Bilateral tonic-clonic seizure, Tremor, Seizure, Gait ata... ORPHA:529665
Pfeiffer Syndrome
Cloverleaf skull, Elbow ankylosis, Coronal craniosynostosis, Hydrocephalus, Brachyturricephaly, F... OMIM:101600
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Umbilical hernia, Slender finger, Dolichocephaly, Contracture of the... ORPHA:2872
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Brachycephaly, Wide anterior fontanel, Wormian bones, Midface retrusion, Skull ... OMIM:601853
Schaaf-Yang Syndrome
Polyphagia, Failure to thrive in infancy, Skin-picking, Impulsivity, Obesity OMIM:615547
Apert Syndrome
Brachyturricephaly, Broad thumb, Preaxial hand polydactyly, Sagittal craniosynostosis, Cutaneous ... OMIM:101200
Intellectual Developmental Disorder, X-Linked 98
Infantile spasms, Status epilepticus, Hyperactivity, Ataxia, Tonic seizure, Bilateral tonic-cloni... OMIM:300912
Developmental And Epileptic Encephalopathy 110
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Self-injurious behavior ORPHA:228402
Cole-Carpenter Syndrome
Scoliosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Communicating h... ORPHA:2050
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Short neck, Knee flexion contracture, Ankle flexion contracture, Limb joint con... ORPHA:284417
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Kniest Dysplasia
Lumbar kyphoscoliosis, Hip dislocation, Enlarged joints, Hypoplastic pelvis, Tibial bowing, Coxa ... OMIM:156550
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Laryngotracheomalacia, Small epiphyses, Delayed ossification of carpal bone... ORPHA:93346
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Brachycephaly ORPHA:314575
Luscan-Lumish Syndrome
Polyphagia, Anxiety, Aggressive behavior, Obesity OMIM:616831
Fgfr2-Related Bent Bone Dysplasia
Coronal craniosynostosis, Metopic depression, Steep acetabular roof, Abnormal periosteum morpholo... ORPHA:313855
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Small for gestational age, Large for gestational age, Agitation ORPHA:324575
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Saethre-Chotzen Syndrome
Craniosynostosis, Plagiocephaly, Proximal radio-ulnar synostosis, Scoliosis, Hallux valgus, Promi... ORPHA:794
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... ORPHA:289176
Developmental And Epileptic Encephalopathy 66
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal c... OMIM:618067
Mucolipidosis Ii Alpha/Beta
Premature anterior fontanel closure, Hip dislocation, Hip dysplasia, Pathologic fracture, Lumbar ... OMIM:252500
Shprintzen-Goldberg Syndrome
Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Joint stiff... ORPHA:2462
Temple Syndrome
Polyphagia, Small for gestational age, Obesity ORPHA:254516
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Slc35A2-Cdg
Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Short tibia,... ORPHA:356961
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Inability to walk, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 year... OMIM:614207
Developmental And Epileptic Encephalopathy 41
Inability to walk, Myoclonic status epilepticus, Myoclonic seizure, Status epilepticus without pr... OMIM:617105
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Cloverleaf skull, Preaxial hand polydactyly, Short phalanx of finger, Brachydactyly, Postaxial fo... ORPHA:508533
Sillence Syndrome
Scoliosis, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabular roof, Lar... ORPHA:3168
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Thin bony cortex, Umbilical hernia, Thin ribs, Wormian bones, Vertebral... OMIM:617952
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Immunodeficiency 43
Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... OMIM:241600
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Emotional lability, Obesity ORPHA:179494
Tay-Sachs Disease
Inability to walk, Gait disturbance, Focal impaired awareness seizure, Typical absence seizure, T... ORPHA:845
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Infantile spasms, Inability to walk by childhood/adolescence, Torticollis, Bilateral tonic-clonic... OMIM:620224
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Aqueductal stenosis, Turricephaly ORPHA:1496
Young-Onset Parkinson Disease