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Gene: Hdac4 MGI:3036234

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Gene Summary

Name:
histone deacetylase 4
Synonyms:
4932408F19Rik

Order Alleles

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
increased circulating alkaline phosphatase level Hdac4em1(IMPC)Ccpcz HET Early adult 6.72×10-06
no spontaneous movement Hdac4em1(IMPC)Ccpcz HOM E18.5 0.00
increased NK cell number Hdac4em1(IMPC)Ccpcz HET Early adult 8.09×10-05

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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 Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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
Congenital hip dislocation, Dislocation of the femoral head, Delayed closure of the anterior font... OMIM:619797
2Q37 Microdeletion Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy 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
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:617113
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive... OMIM:619157
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... OMIM:616056
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to wal... OMIM:616346
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
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
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate... OMIM:616409
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... 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
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Aggressive behavior, Hyperactiv... ORPHA:2382
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, Ataxia, Torsion dystonia, ... ORPHA:98811
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia 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, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Myoclonus, Gait ataxi... OMIM:620145
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Frontotemporal Dementia
Frontal lobe dementia, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotem... OMIM:600274
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... OMIM:602066
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Bilateral tonic-clonic seizure, Ataxia, Dystonia, Generalized ... OMIM:617836
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Obesity, Polyphagia, Motor stereotypy OMIM:613886
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... OMIM:617350
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure, Torticollis OMIM:612621
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait ataxia, Tremo... OMIM:617810
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset ... OMIM:245570
Developmental Delay With Or Without Epilepsy
Ataxia, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (wit... OMIM:620540
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:615006
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic... OMIM:619639
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... OMIM:271980
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Stxbp1-Related Encephalopathy
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to wa... ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Generalized myoclonic seizure, Seizure, Aggressive behavior, Hyp... 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
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
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
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisi... ORPHA:208447
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Dystonia... OMIM:618924
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, Bilateral tonic-clonic seizure, ... OMIM:608636
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Opisthotonus... OMIM:619913
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus, Cloverleaf skull OMIM:148800
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus 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, Sagittal craniosynostosis, Cutaneous syndactyl... OMIM:185900
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Obesity ORPHA:329249
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dystonia OMIM:618425
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Obesity, Stereotypical hand wringing, Bilateral... OMIM:619854
Hypochondroplasia
Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident han... OMIM:146000
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Tonic seizure, Gait disturbance, Hyperactivity... OMIM:618090
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Attention deficit hyperactivity disorder, Generalized non-motor (absen... ORPHA:35878
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Agitation OMIM:617171
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Sweet crav... ORPHA:33543
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Myoclonus, Recurrent h... OMIM:617600
Craniosynostosis 3
Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Right unicoronal synostosis, Brac... OMIM:615314
Aurocephalosyndactyly
Craniosynostosis, 4-5 toe syndactyly OMIM:109050
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to wa... ORPHA:330050
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... OMIM:185700
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoc... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Obesity, Self-mutilation, Polyphagia, Aggressive behavio... OMIM:616521
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Bilateral ton... OMIM:619191
Epilepsy, Progressive Myoclonic, 8
Falls, Limb ataxia, Myoclonus, Truncal ataxia, Gait disturbance, Bilateral tonic-clonic seizure, ... OMIM:616230
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger, Semilobar ... 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
Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure... OMIM:617904
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz... OMIM:617106
Lipoid Proteinosis Of Urbach And Wiethe
Aggressive behavior, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Torticollis, Bilateral t... OMIM:620453
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dolichocephaly, Frontal bossing, Orbital craniosynostosis ORPHA:1538
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Infantile Convulsions And Choreoathetosis
Seizure, Complex febrile seizure, Focal-onset seizure, Focal impaired awareness autonomic seizure... ORPHA:31709
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Huntington Disease
Mental deterioration, Memory impairment, Decreased body mass index, Depression, Oral-pharyngeal d... ORPHA:399
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... OMIM:617935
Craniosynostosis 6
Plagiocephaly, Right unilambdoid synostosis, Parietal foramina, Delayed cranial suture closure, B... OMIM:616602
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Craniosynostosis 1
Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Dolichocephaly, Sagittal craniosynost... OMIM:123100
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly, Increased bone mineral density ORPHA:178377
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:162350
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Bilateral tonic-c... OMIM:617862
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
L-Ferritin Deficiency
Generalized-onset seizure, Restless legs OMIM:615604
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure OMIM:616341
Hypophosphatasia, Childhood
Rachitic rosary, Dolichocephaly, Craniosynostosis, Frontal bossing, Bowing of the legs OMIM:241510
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Paroxysmal Kinesigenic Dyskinesia
Seizure, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Acromesomelic Dysplasia, Maroteaux Type
Abnormal form of the vertebral bodies, Vertebral wedging, Joint stiffness, Joint hypermobility, B... ORPHA:40
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Generalized non-motor (absence) seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax... OMIM:618170
Myoclonic-Astatic Epilepsy
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bil... ORPHA:1942
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia OMIM:614963
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dystonia OMIM:619065
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Generalized non-motor (absence) seizure OMIM:616281
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
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Preaxial hand polydac... ORPHA:380
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure OMIM:615362
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Hyperactivity, Bilateral t... OMIM:300558
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se... ORPHA:544254
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability... OMIM:618917
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure... OMIM:301020
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo... OMIM:619605
Hip Dysplasia, Beukes Type
Scoliosis, Abnormal epiphysis morphology, Broad femoral neck, Kyphosis, Abnormality of the epiphy... ORPHA:2114
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gen... OMIM:616540
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Jackson-Weiss Syndrome
Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m... 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
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Bruxism, Myoclonus, Stereotypical... OMIM:618497
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic seizure, A... OMIM:204300
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Knee dislocation, Genu valgum, Limited elbow extension, Inte... OMIM:614078
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... OMIM:175700
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure OMIM:309530
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Thin ribs, Platyspondyly, Kyph... OMIM:616294
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th f... ORPHA:3210
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Oxycephaly, Preaxial foot polyd... ORPHA:65759
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Clinodactyly of the 5th finger, Dolichocephaly, Short neck, Hydrocephalus, Cran... ORPHA:1516
Chromosome 22Q13 Duplication Syndrome
Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, I... OMIM:615538
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Frontal bossing, Vertebral compre... OMIM:112240
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... ORPHA:93284
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Delayed closure of the anterior... OMIM:618736
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Spinocerebellar Ataxia 48
Gait ataxia, Tremor, Dysmetria, Cachexia, Bilateral tonic-clonic seizure, Ataxia, Dystonia, Dysph... OMIM:618093
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera... OMIM:619428
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... ORPHA:411986
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, G... OMIM:619701
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Scaphocephaly, Arthropathy, Thoracolumbar scoliosis, Clubbing, Cra... OMIM:618523
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Joint hypermobility, B... OMIM:619451
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Wormian bones, Brachyc... OMIM:604757
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Myoclonic seizure, Typical absence seizure, Seizure, Inability to walk, Myoclonus, Focal-... ORPHA:168491
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia OMIM:203740
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivity ORPHA:411515
Cranioectodermal Dysplasia
Short distal phalanx of finger, Finger syndactyly, Abnormal diaphysis morphology, Frontal bossing... ORPHA:1515
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Liang-Wang Syndrome
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing, Hydrocephalus, Frontal encephalocele ORPHA:1528
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Scoliosis, Joint dislocation, Genu valgum, Metaphyseal enchondromat... ORPHA:85198
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior ORPHA:261229
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Foca... OMIM:614559
Developmental And Epileptic Encephalopathy 28
Ataxia, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, ... OMIM:616211
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hype... OMIM:604317
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Failure to thrive, Inability to walk, Epileptic spasm, Bilateral tonic-clonic ... ORPHA:293181
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal calvaria morphology, Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing ... ORPHA:1952
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Bilateral tonic-clonic seiz... 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, Small anterior fontanelle, Trigonocephaly, Sagittal craniosynostosis... OMIM:314320
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Br... OMIM:618265
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Developmental And Epileptic Encephalopathy 37
Myoclonus, Focal hemiclonic seizure, Gait disturbance, Bilateral tonic-clonic seizure, Multifocal... OMIM:616981
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, 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
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Craniofrontonasal Dysplasia
Plagiocephaly, Scoliosis, Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of... ORPHA:1520
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Foxg1 Syndrome
Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure,... ORPHA:561854
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Stillbirth, Inc... OMIM:241500
Intellectual Developmental Disorder, Autosomal Recessive 57
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:617188
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Chronic Hiccup
Abnormal eating behavior, Depression, Weight loss ORPHA:396
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Skull asymmetry, Short femoral neck, Proximal femoral epiphysiolysis, ... OMIM:616723
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Seizure, Generalized-onset seizure, Tremor, Dysphagia OMIM:617162
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Parietal foramina, Myelomeningocele, Short clavicles, Crani... ORPHA:60015
Metatropic Dysplasia
Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic ce... ORPHA:2635
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero... ORPHA:89936
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizur... OMIM:619725
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Inability to walk, Genera... OMIM:617976
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait OMIM:620317
Hypophosphatasia
Large fontanelles, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal ... ORPHA:436
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Attention def... ORPHA:467166
Lafora Disease
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:501
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Scoliosis, Joint hypermobility OMIM:618906
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Small anterior fontan... ORPHA:3369
Intellectual Developmental Disorder, Autosomal Dominant 74
Motor tics, Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Seizure, Action tremor, Impaired tandem gait, Gait disturbance, Bilateral tonic-clonic sei... OMIM:300423
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Harel-Yoon Syndrome
Inability to walk, Dystonia, Generalized non-motor (absence) seizure, Ataxia OMIM:617183
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Hydrocephalus, Scoliosis, Uln... OMIM:618577
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:98795
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Craniosynostosis, Lobar holoprosence... ORPHA:2117
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Disinhibition, Polyphagia, Repetitive compulsive behavior, Frontotemporal deme... OMIM:607485
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Focal-onset seizure OMIM:619301
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Greenberg Dysplasia
Platyspondyly, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodies, Calvaria... ORPHA:1426
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia,... OMIM:614487
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Broad thumb, Clinodactyly, Short middle phalanx of toe, ... OMIM:602849
Muscular Dystrophy, Congenital, With Or Without Seizures
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... OMIM:620166
Trigonocephaly 1
Lumbar hemivertebrae, Craniosynostosis, Trigonocephaly, Metopic synostosis OMIM:190440
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, Short neck, Narrow... ORPHA:66637
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele OMIM:218670
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Brachycephaly, Brachydactyly, Split hand, Abnormal rib morpholog... ORPHA:2145
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Failure to thrive, Seizure, Ataxia, Dystonia, Choreoathetosis OMIM:616034
Satb2-Associated Syndrome Due To A Pathogenic Variant
Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure ORPHA:576283
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Failure to thrive, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypic... OMIM:300912
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... ORPHA:140927
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Focal-onset seizure OMIM:619302
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Spi... OMIM:102510
16P13.11 Microduplication Syndrome
Joint hypermobility, Arachnodactyly, Dolichocephaly, Hand polydactyly, Craniosynostosis ORPHA:261243
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... OMIM:619881
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Umbilical hernia, Large fontanelles, Turricephaly, Bowing of the long bones, Radi... ORPHA:171839
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
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure, Dystonia, Status epile... OMIM:613970
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Infantile spasms, Bilateral tonic-clonic seizure, Dystonia, Athetosis, D... OMIM:617493
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Feb... ORPHA:1934
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Delayed cranial suture ... OMIM:603116
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Ataxia, Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizu... ORPHA:352582
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response ORPHA:163985
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, F... OMIM:259700
Angelman Syndrome
Ataxia, Self-injurious behavior, Broad-based gait, Seizure, Inability to walk, Obesity, Infantile... ORPHA:72
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Osteoglosphonic Dysplasia
Abnormal form of the vertebral bodies, Brachydactyly, Abnormal bone ossification, Craniosynostosi... ORPHA:2645
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis ORPHA:726
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic verteb... ORPHA:2163
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral bowing, Turrice... ORPHA:83
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow contracture, Elbow ... OMIM:178110
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Epileptic spasm, Tremor, Generalized tonic seizure, Bilateral toni... OMIM:612164
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Obesity, Action tremor, Dysmetria, Gait disturbance, Bilateral tonic-clonic se... ORPHA:93952
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Dysphagia, Generalized non-motor (absence) seizure, Inab... OMIM:616973
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Cone-shaped epiphysis, Carpal synostosis, Brachycephaly,... ORPHA:53271
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Periventricular Nodular Heterotopia 7
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Ataxia OMIM:617201
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... OMIM:201000
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Intention tre... OMIM:117360
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity, Bilateral tonic-clonic seizure OMIM:240900
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Obe... OMIM:619229
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Pathologic fracture, Abnormal t... ORPHA:83468
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Bruxism, Decreased body weig... OMIM:300260
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Spinocerebellar Ataxia Type 10
Focal impaired awareness seizure, Dysdiadochokinesis, Generalized-onset seizure, Gait imbalance, ... ORPHA:98761
Developmental And Epileptic Encephalopathy 110
Bruxism, Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn... ORPHA:949
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Focal myoclonic seizure, Seizure, Difficulty walking, Obesity, Unsteady gait, Bilateral tonic-clo... ORPHA:464282
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Craniosynostosis, Metaphyseal dysplasia OMIM:614732
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Overfriendliness OMIM:620439
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... OMIM:613839
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure OMIM:226750
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Radioulnar synostosis, Short neck, Broad distal phalanges of al... OMIM:245600
Robinow-Sorauf Syndrome
Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux... OMIM:180750
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Inf... ORPHA:457351
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Bilateral t... OMIM:617166
Pfeiffer Syndrome Type 1
Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... OMIM:618012
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, A... OMIM:610042
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia, Dystonia, Dysph... ORPHA:313772
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clon... ORPHA:79351
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... ORPHA:275864
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Stillbirth, Flared metaphysis, Short ribs, Generalized osteosclero... OMIM:215045
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Prognathism, Mandibular
Craniosynostosis OMIM:176700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, B... ORPHA:536467
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Oligodactyly, Humeroradial synostosis, Neonatal death, Missing ribs, A... OMIM:251230
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Opisthoto... ORPHA:95232
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Bilateral tonic-clonic seizure, Stat... ORPHA:529665
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Abnormal sacrum mor... ORPHA:207
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... OMIM:207410
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Polyarticular arthritis, Osteomalacia, Ric... ORPHA:289176
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Arachnodactyly, Dislocated radial head, Os... OMIM:182212
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums, Obesity, Decreased body weight OMIM:300804
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Autosomal Recessive Omodysplasia
Elbow dislocation, Pterygium, Abnormal femur morphology, Abnormal metaphysis morphology, Abnormal... ORPHA:93329
Marshall-Smith Syndrome
Slender long bone, Increased susceptibility to fractures, Joint hypermobility, Bowing of the long... ORPHA:561
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Large for gestational age, Small for gestational age, Agitation ORPHA:324575
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Polydactyly, Hip dysplasia, Craniosynostosis, Scoliosis ORPHA:531151
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnorma... ORPHA:296
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self... ORPHA:363686
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Gait di... ORPHA:395
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Cutaneous syndactyly of toes, Contracture of the proximal interphalangeal joint o... ORPHA:2872
Pycnodysostosis
Coronal craniosynostosis, Small hand, Spondylolysis, Scoliosis, Persistent open anterior fontanel... ORPHA:763
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... OMIM:612469
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali... OMIM:618067
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Myoclonic seizure, Inability to walk, Epileptic spasm, Gait ataxia, Recurrent hand flappi... OMIM:619580
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Knee flexion contracture, Short neck, Limb joint contracture, Craniosy... ORPHA:284417
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bila... OMIM:615802
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Noctur... ORPHA:98784
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276580
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Saethre-Chotzen Syndrome
Plagiocephaly, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies, Delayed cra... ORPHA:794
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Decreased calvarial ossification, Short clavicles, Brachydactyly, Hypop... OMIM:614592
Craniosynostosis 4
Lambdoidal craniosynostosis, Coronal craniosynostosis, Bicoronal synostosis, Sagittal craniosynos... OMIM:600775
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormality of the cervical spine, Brachyc... OMIM:123500
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Shprintzen-Goldberg Syndrome
Osteopenia, Elbow dislocation, Abnormal form of the vertebral bodies, Camptodactyly of finger, Um... ORPHA:2462
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Turricephaly, Wormian bones, Brachycephaly, Craniosynostosis, Wide anterior font... OMIM:601853
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Turricephaly, Jo... ORPHA:2050
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Abnormal periosteum morph... ORPHA:313855
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bow... OMIM:617952
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Self-mutilation, Gait disturbance, Bilateral tonic-clonic seizure, Overweight, M... ORPHA:457240
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Skin-picking, Polyphagia, Impulsivity OMIM:615547
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Tay-Sachs Disease
Typical absence seizure, Seizure, Laryngeal dystonia, Inability to walk, Myoclonus, Tremor, Dysme... ORPHA:845
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Foot polydactyly, Abno... ORPHA:1553
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane... OMIM:614378
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Inability to walk, Epileptic spasm, Status epilepticus without prominent motor... OMIM:617105
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... OMIM:620224
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Chromosome 5P13 Duplication Syndrome
Turricephaly, Brachycephaly, Long fingers, Craniosynostosis, Scoliosis, Frontal bossing OMIM:613174
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... OMIM:618010
Scarf Syndrome
Abnormal form of the vertebral bodies, Umbilical hernia, Joint hypermobility, Short sternum, Shor... ORPHA:3134
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Short neck, Aplas... OMIM:609945
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Obesity, Emotional lability ORPHA:179494
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Ar... OMIM:600920
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Finger syndactyly, Sandal gap, Clinodactyly of the 5th finger, Brachycephaly, S... ORPHA:254346
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Aqueductal stenosis, Turricephaly ORPHA:1496
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Large for gestational age, B... OMIM:615398
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
3Mc Syndrome
Caudal appendage, Umbilical hernia, Spina bifida occulta, Radioulnar synostosis, Limited pronatio... ORPHA:293843
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Scaphocephaly, Clinodactyly of the 5th finger, Frontal bossing ORPHA:397612
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bon... ORPHA:2347
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Joint hypermobility, 2-3 toe... OMIM:619951
Curry-Jones Syndrome
Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ... OMIM:601707
Intellectual Developmental Disorder, Autosomal Dominant 22
Bruxism, Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing OMIM:612337
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Sandhoff Disease, Infantile Form
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response ORPHA:309155
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Calvarial skull defect, Encephalocele, Brachycephaly, Frontal bossing ORPHA:228390
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Craniosynostosis, Platybasia, Scoliosis ORPHA:261197
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing,... OMIM:610915
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Craniosynostosis, Flexion contracture OMIM:619076
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Delayed cranial suture closure, Preaxial hand polydactyly, Sacral... ORPHA:2211
Insulinoma
Increased body weight, Transient global amnesia, Polyphagia ORPHA:97279
8Q22.1 Microdeletion Syndrome
Limitation of joint mobility, Sandal gap, Finger syndactyly, Camptodactyly of finger, Short neck,... ORPHA:178303
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased bone mineral density, Coxa valga OMIM:616943
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo... OMIM:166250
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Frontoocular Syndrome
Coronal craniosynostosis, Trigonocephaly OMIM:605321
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... OMIM:609625
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor... ORPHA:96148
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Joint hypermobility, Brachydactyly, Shor... OMIM:619184
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive OMIM:606407
Dpm1-Cdg
Ataxia, Failure to thrive, Seizure, Early onset absence seizures, Generalized tonic seizure, Aton... ORPHA:79322
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... OMIM:276950
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Large fontanelles,... OMIM:218600
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Small hand, Clinodactyly of the 5th finger ORPHA:163971
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Emotional lability, Irritability, Polyphagia, Hyperactivity ORPHA:525731
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Talipes valgus, Patellar subluxation, Sagittal craniosynostosis, Scoliosis OMIM:615879
Fg Syndrome Type 1
Plagiocephaly, Finger syndactyly, Clinodactyly of the 2nd finger, Umbilical hernia, Prominent occ... ORPHA:93932
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Anterior plagiocephaly, Joint hypermobility, Osteoporosis, Scol... OMIM:619718
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Lowry-Maclean Syndrome
Osteopenia, Widely patent coronal suture, Small anterior fontanelle, Trigonocephaly, Hydrocephalu... ORPHA:2409
Cebalid Syndrome
Polyphagia OMIM:618774
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Failure to thrive, Generalized non-motor (absence) seizure, Inability ... ORPHA:404454
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, Hydrocephalu... ORPHA:459061
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Clinodactyly of the 5th finger, Joint hypermobility, Hip dyspl... ORPHA:808
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Craniosynostosis OMIM:620428
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Clinodactyly of the 5th finger ORPHA:163976
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Butterfly vertebrae, Postaxial hand polydactyly,... OMIM:301056
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d... OMIM:613686
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormal form of the vertebral bodies, Umb... OMIM:312830
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Obesity, St... ORPHA:96147
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Hori... OMIM:616300
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bullet-shaped middle phalanges of t... OMIM:602535
Parenti-Mignot Neurodevelopmental Syndrome
Craniosynostosis, Frontal bossing OMIM:619873
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Large fontanelles, Camptodactyly of toe, Short neck, Craniosynostosis... ORPHA:251038
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Genu recurvatum, Osteopenia, Joint dislocation, Flared metaphysis, Dislocated radial head, Joint ... OMIM:130070
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Large posterior fontanelle, Parietal ... ORPHA:85199
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Osteopenia, Cranial hyperostosis, Talipes valgus, Umbilical hernia, Joint stiffnes... ORPHA:309282
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Gait ataxia, Dysmetria, Tremor, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Osteomyelitis, Joint hypermobility, Craniosynostosis, Scoliosis, Recurrent fractures ORPHA:2314
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Joint hypermobility OMIM:619056
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Aymé-Gripp Syndrome
Plagiocephaly, Limitation of joint mobility, Delayed cranial suture closure, Clinodactyly of the ... ORPHA:1272
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus, Frontal bossing ORPHA:1064
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Febrile s... OMIM:617798
Coffin-Siris Syndrome 7
Trigonocephaly, Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly OMIM:618027
Distal Triplication 15Q
Arachnodactyly, Hydrocephalus, Camptodactyly, Craniosynostosis, Flexion contracture, Scoliosis, K... ORPHA:314588
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Atlantoaxial dislocation, Cervical kyphosis, Recurrent joint dislocation, Large f... ORPHA:2953
3Mc Syndrome 2
Abnormal vertebral morphology, Caudal appendage, Skull asymmetry, Abnormality of the vertebral co... OMIM:265050
Au-Kline Syndrome
Plagiocephaly, Sacral dimple, Overlapping toe, Clinodactyly of the 5th finger, Vertebral segmenta... OMIM:616580
Craniofrontonasal Syndrome
Axillary pterygium, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux... OMIM:304110
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Focal impaired awa... ORPHA:488613
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity ORPHA:66628
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:466943
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Contracture... ORPHA:314585
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Head-banging, Failure to thrive, Seizure, Generalized non-motor (absence) seiz... OMIM:620455
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Skull ... OMIM:257920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, Cone-shaped epip... OMIM:266920
Hamamy Syndrome
Osteopenia, Neck pterygia, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachycephaly,... OMIM:611174
Meier-Gorlin Syndrome 7
Copper beaten skull, Preaxial hand polydactyly, Aplasia/Hypoplasia of the patella, Joint hypermob... OMIM:617063
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Metaphyseal chondrodysplasia, Hallux valgus, Brachydactyly, Craniosynostosis, Frontal bossing, Sh... ORPHA:166035
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Joint hypermobility, Rib fusion, Brachycephaly, Short neck, Beaking of vertebral... OMIM:213980
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity, Progressive psychomotor deterioration ORPHA:251004
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Sandal gap, Delayed cranial suture closure, Sacral dimpl... ORPHA:235
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Clinodacty... ORPHA:3103
Choanal Atresia
Craniosynostosis, Tracheomalacia, Polydactyly ORPHA:137914
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scaphocephaly, Arachnodactyly, Hydrocephalus, Long fingers, Craniosynostosis, Kyphosis, Hyperexte... OMIM:616914
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis OMIM:616901
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Short distal phalanx of finger, Umbilical hernia, Brachycephaly, Abnorm... ORPHA:2095
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Pica, Seizure, Generalized non-motor (absence) seizure OMIM:617360
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Myoclonus, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Exagg... OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Short attention span, Recurrent hand fl... OMIM:156200
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal chondrodysplasia, Brachydactyly, Metaphyseal dysplasi... OMIM:250410
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Typical absence seizure, Obesity, Aggressive behavior, Attention deficit... ORPHA:466950
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-c... OMIM:619297
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Decreased body weight, Dysph... ORPHA:258
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Gen... ORPHA:321
Cranioectodermal Dysplasia 3
2-4 toe syndactyly, Sandal gap, Scaphocephaly, Joint hypermobility, 2-3 toe syndactyly, Postaxial... OMIM:614099
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ta... ORPHA:221120
Frontonasal Dysplasia 2
Parietal foramina, Calvarial skull defect, Encephalocele, Anterior plagiocephaly, Brachycephaly, ... OMIM:613451
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Sagittal craniosynostosis, Frontal bossing OMIM:145420
1P31P32 Microdeletion Syndrome
Craniosynostosis, Frontal bossing ORPHA:401986
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Plagiocephaly, Branchial anomaly, Vertebral segmentation defect, Hip dysplasia, Crani... ORPHA:453499
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ... OMIM:101400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Turricephaly, Dolichocephaly, Hydrocephalus, Craniosynostosis, Cloverleaf skull ORPHA:1555
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Increased body weight, Polyphagia, Skin-picking, Cog... ORPHA:398069
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Clinodactyly, Broad hallux, Oxycephaly, Tr... OMIM:614188
Mucolipidosis Type Ii
Hip dislocation, Limitation of joint mobility, Kyphosis, Umbilical hernia, Decreased movement ran... ORPHA:576
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Small hand, Umbilical hernia, Hypoplasti... OMIM:235510
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Generalized dystonia, Loss of ambulation, Progressive gait ataxia, Bilateral tonic-clonic ... ORPHA:329308
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Athetosis, Focal im... ORPHA:369929
Gangliocytoma
Dementia, Polyphagia ORPHA:251937
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 57
Joint hypermobility, Brachydactyly, Absent fourth finger distal interphalangeal crease, Contractu... OMIM:618050
Distal Duplication 5Q
Absent thumb, Hypoplasia of the ulna, Brachydactyly, Hypoplasia of the radius, Craniosynostosis ORPHA:96097
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly, Brachydactyly ORPHA:457193
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Osteopet... ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-... OMIM:620330
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss, Bradykin... ORPHA:2388
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:98793
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile se... ORPHA:513456
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... ORPHA:177901
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Clinodactyly, Short toe, Radial deviation of finger, Scaphocephal... OMIM:218330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness ORPHA:251028
Weaver Syndrome
Bilateral tonic-clonic seizure, Polyphagia, Seizure, Generalized non-motor (absence) seizure OMIM:277590
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Polyphagi... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Obesity, Polyphagia, Skin-picking, Abdominal obesity ORPHA:398079
Cerebrooculonasal Syndrome
Proboscis, Encephalocele, Postaxial polydactyly, Brachycephaly, Hydrocephalus, Postaxial hand pol... OMIM:605627
Arterial Tortuosity Syndrome
Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Clinodactyly of the 5th ... ORPHA:3342
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Abnormality of the vertebral column, Tracheomalacia, Joint hypermobility, Craniosynostosis, Scoli... ORPHA:412069
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Osteopenia, Branchial anomaly, Joint hypermobility, Postaxial polyda... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Osteopenia, Branchial anomaly, Joint hypermobility, Postaxial polyda... ORPHA:352665
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Brachycephaly, Trigonocephaly ORPHA:1790
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Clinodactyly, Sandal gap, Short neck, Short hallux, Camptodactyly,... OMIM:608156
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, 3-4 toe syndactyly, Clinodactyly of the 5th finger, Joint hypermobility, Spina bi... OMIM:300707
Cranioectodermal Dysplasia 2
Plagiocephaly, Clinodactyly, Horizontal ribs, Joint hypermobility, Polydactyly, Dolichocephaly, P... OMIM:613610
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Obesity, Generalized tonic seizure, Bilateral tonic-clon... ORPHA:369837
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Sacrococcygeal pilonidal abnormality, Camptodactyly of finger, Abnorma... ORPHA:468631
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Broad hallux, Anterior plagiocephaly, Left unicoronal synostosis, Shortening of al... OMIM:614749
Beare-Stevenson Cutis Gyrata Syndrome
Overlapping toe, Limited elbow extension, Hydrocephalus, Craniosynostosis, Cloverleaf skull, Flat... OMIM:123790
7Q11.23 Microduplication Syndrome
Tracheomalacia, Joint hypermobility, Dolichocephaly, Brachycephaly, Cubitus valgus, Short neck, H... ORPHA:96121
Pseudohypoparathyroidism Type 1C
Depression, Confusion, Obesity, Irritability, Polyphagia ORPHA:79444
Mosaic Variegated Aneuploidy Syndrome 2
Clinodactyly, Clinodactyly of the 5th finger, Dolichocephaly, Craniosynostosis, Frontal bossing OMIM:614114
15q26 overgrowth syndrome
Abnormal joint morphology, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Long toe... DECIPHER:81
Acrocephalopolydactylous Dysplasia
Oxycephaly, Craniosynostosis, Short neck, Postaxial hand polydactyly OMIM:200995
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Slender long bone, Camptodac... ORPHA:2554
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Umbilical hernia, Sagittal craniosynostosis, Thoracolumbar scoliosis, Wide anterior f... OMIM:610199
Trichothiodystrophy
Osteopenia, Joint dislocation, Umbilical hernia, Multiple joint contractures, Clubbing, Craniosyn... ORPHA:33364
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Prader-Willi Syndrome
Self-injurious behavior, Class III obesity, Failure to thrive in infancy, Obesity, Polyphagia, At... OMIM:176270
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Broad-based gait, Small for gestational age, Typical absence seizure, Seizure, Febrile se... ORPHA:268261
Say-Barber-Miller Syndrome
Patellar hypoplasia, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Recurrent... ORPHA:3132
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Zttk Syndrome
Small hand, Scoliosis, Cervical ribs, Joint hypermobility, Rib fusion, Hemivertebrae, Craniosynos... OMIM:617140
Branchioskeletogenital Syndrome
Abnormality of the vertebral spinous processes, Umbilical hernia, Upper limb peromelia, Thickened... ORPHA:1299
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Slc39A8-Cdg
Osteopenia, Cutaneous syndactyly of toes, Elbow flexion contracture, Knee flexion contracture, Cr... ORPHA:468699
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Prominent fingertip pads, Tracheomalacia, Cervical spinal canal stenosis, Spon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Prominent fingertip pads, Tracheomalacia, Cervical spinal canal stenosis, Spon... ORPHA:363958
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... ORPHA:404448
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Delayed cranial suture closure, Scaphocephaly, 11 pairs of ribs, Hip dysplasia, Crani... OMIM:620005
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Umbilical hernia... OMIM:618164
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Failure to thrive, Seizure, Bruxism, Obesity, Polyphagia, Tonic seizure,... OMIM:615873
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty... OMIM:615465
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Oxycephaly, Trigonocephaly, Cutaneous finger syndactyly, Clino... OMIM:614976
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Pseudohypoparathyroidism Type 1A
Depression, Confusion, Obesity, Irritability, Polyphagia ORPHA:79443
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Failure to thrive, Abdominal obesity ORPHA:739
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Absent... ORPHA:93322
Opitz Gbbb Syndrome
Tracheomalacia, Umbilical hernia, Large fontanelles, Vertebral segmentation defect, Craniosynosto... ORPHA:2745
X-Linked Acrogigantism
Polyphagia, Increased body mass index ORPHA:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small hand, Clinodactyly, Trigonocephaly, Overlapping toe, Brachycephaly, Brachydactyly, Camptoda... OMIM:309590
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Frontal bossing, Joint hypermobility, Short neck, Craniosynostosis, Scoliosis OMIM:617506
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, 11 pairs of ribs, Prominent occiput, Clinodacty... ORPHA:79500
Fontaine Progeroid Syndrome
Platyspondyly, Coronal craniosynostosis, Short distal phalanx of finger, Umbilical hernia, Absent... OMIM:612289
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Obesity, Emotional lability, Polyphagia, Aggress... ORPHA:293987
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Tre... OMIM:612474
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Short neck, Abnormal metacarpal morphology, Absent radius, Syndactyly, Ankle flexio... OMIM:268300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly, Unilateral brachydactyly, Syndactyly ORPHA:1521
Loeys-Dietz Syndrome 1
Spondylolisthesis, Joint hypermobility, Arachnodactyly, Postaxial polydactyly, Supernumerary ribs... OMIM:609192
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Spondylolisthesis, Absent distal phalanges, Join... OMIM:610168
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Obesity, Abnormal fear-induced behavior, Abdominal obesity OMIM:219090
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Noonan Syndrome 3
Scaphocephaly, Sagittal craniosynostosis, Left unilambdoid synostosis, Dolichocephaly, Frontal bo... OMIM:609942
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Umbilical hernia, Osteochondritis dissecans, Intervertebral disk ... OMIM:613795
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Aprosencephaly OMIM:601374
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Brachyturricephaly, Overlapping toe, Contracture of the dist... ORPHA:83617
Proteus Syndrome
Macrodactyly, Rib exostoses, Kyphosis, Finger syndactyly, Cranial hyperostosis, Abnormal form of ... ORPHA:744
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Umbilical hernia, Turricephaly, Joint hypermobility, Arachnodac... ORPHA:567
Peters-Plus Syndrome
Square pelvis bone, Limited elbow movement, Short neck, Short foot, Short metacarpal, Syndactyly,... OMIM:261540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Arboleda-Tham Syndrome
Plagiocephaly, Sandal gap, Enlarged proximal interphalangeal joints, Genu valgum, Deviation of th... OMIM:616268
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ... OMIM:600145
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Slender long bone, Frontal bossing, Cervical ribs, Lumbar hyperlordosis, Joint hype... ORPHA:500150
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Prominent fingertip pads, Sandal gap, Sacral dimple, Joint contracture of the 5th fin... ORPHA:363611
Loeys-Dietz Syndrome
Joint dislocation, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Craniosynostosis... ORPHA:60030
Hyperlysinemia
Craniosynostosis ORPHA:2203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Degcags Syndrome
Osteopenia, Plagiocephaly, Toe syndactyly, Tracheomalacia, Short thumb, Preaxial hand polydactyly... OMIM:619488
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Scoliosis, Carpal synostosis, Femoral bowing, Humeroradial synosto... OMIM:201750
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Dislocation of the femoral head, Delayed closure of the anterior font... OMIM:619797
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Failure to thrive, Obesity, Atonic seizure, Focal-onset seizure OMIM:617157
Hennekam Syndrome
Craniosynostosis, Finger syndactyly, Camptodactyly of finger ORPHA:2136
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis ORPHA:79396
Acrofacial Dysostosis, Cincinnati Type
Pterygium, Calvarial skull defect, Femoral bowing, Acetabular dysplasia, Clinodactyly of the 5th ... OMIM:616462
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Gabriele-De Vries Syndrome
Sandal gap, Dolichocephaly, Distal arthrogryposis, Hallux valgus, Patellar subluxation, Finger jo... ORPHA:506358
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Joint hypermobility, Craniosynostosis, Scoliosis, Frontal bossing, Recurrent fractures OMIM:147060
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:2636
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Aggressi... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Attention deficit hyperactivity disorder, Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... ORPHA:221139
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia OMIM:608594
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Plagiocephaly, Toe syndactyly, Finger syndactyly, Thumb contracture,... OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Oppositional defiant disorder, Self-mutilation, Aggressive behavior, Polyphagia, Dysphagia OMIM:607872
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia OMIM:269700
Monosomy 22Q13.3
Bruxism, Obesity, Hyperactivity, Hair-pulling ORPHA:48652
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... OMIM:617718
Mowat-Wilson Syndrome
Broad-based gait, Seizure, Inability to walk, Bruxism, Focal-onset seizure, Decreased body weight... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Failure to thrive, Seizure, Inability to walk, Bruxism, Dysphagia, Atypical abs... ORPHA:261537
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353277
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Failure to thrive, Seizure, Inability to walk, Bruxism, Dysphagia, Atypical abs... ORPHA:261552
2Q37 Microdeletion Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy ORPHA:1001
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis ORPHA:2968
Alström Syndrome
Polyphagia, Obesity, Cognitive impairment, Truncal obesity ORPHA:64

Histopathology

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

There is no histopathology data for Hdac4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hdac4.

No publications found that use IMPC mice or data for Hdac4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hdac4tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Hdac4em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Hdac4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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