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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 1.94×10-06
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 Whole Body Lateral Orientation

16 Images

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XRay Images Forepaw

16 Images

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XRay Images Whole Body Dorso Ventral

32 Images

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XRay Images Hind Leg and Hip

32 Images

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XRay Images Skull Lateral Orientation

16 Images

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XRay Images Skull Dorso Ventral Orientation

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MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Hdac4 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
2Q37 Microdeletion Syndrome
Obesity, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repeti... 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
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic... OMIM:617665
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-on... ORPHA:725
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Generalized ... ORPHA:307
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, G... ORPHA:36387
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Aggressive behavior, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoath... ORPHA:98811
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... ORPHA:86909
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Frontotemporal Dementia
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... OMIM:600274
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia, Generalized myoclonic seizure, Myocloni... OMIM:617836
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Seizure, Bruxism ORPHA:356996
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior OMIM:617709
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... OMIM:613886
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Kleine-Levin Hibernation Syndrome
Polyphagia, Confusion OMIM:148840
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... OMIM:619639
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Athetosis, S... ORPHA:382
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... OMIM:612691
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O... ORPHA:208447
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... OMIM:608636
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetri... OMIM:618090
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... OMIM:619913
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Sagittal craniosynostosis OMIM:123155
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... OMIM:617171
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Impulsivity, Photosensitive tonic-cl... ORPHA:33069
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Dystonia OMIM:618425
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Generalized non-motor (absence) sei... OMIM:617600
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi... ORPHA:35878
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Craniosynostosis 3
Hallux valgus, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal synostosis... OMIM:615314
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis OMIM:109050
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... ORPHA:33543
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness s... OMIM:616521
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention defic... OMIM:619191
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... OMIM:616230
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Self-... OMIM:617904
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... ORPHA:485350
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Gait imb... ORPHA:101070
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure, Aggressive behavior OMIM:247100
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Hydrocephalus, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Huntington Disease
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Weight loss, Irritabili... ORPHA:399
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Myoclonic-Astatic Epilepsy
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... OMIM:616602
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus OMIM:162350
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, 1-3 toe s... OMIM:175700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... OMIM:617862
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
L-Ferritin Deficiency
Restless legs, Generalized-onset seizure OMIM:615604
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia OMIM:614963
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Bowing of the legs, Dolichocephaly, Rachitic rosary OMIM:241510
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Acromesomelic Dysplasia, Maroteaux Type
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis... ORPHA:40
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dystonia OMIM:619065
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Choreoathetosis, Seizure, Complex febrile seizure, Athetosis, Focal impaired... ORPHA:31709
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... ORPHA:380
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Obesity Due To Sim1 Deficiency
Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp... ORPHA:369873
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... OMIM:300558
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus OMIM:615362
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, ... ORPHA:544254
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking OMIM:618242
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... OMIM:618497
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Kyphosis, H... OMIM:616294
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... OMIM:204300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Capitate-hamate fusion, Radia... OMIM:614078
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Chromosome 22Q13 Duplication Syndrome
Short attention span, Impulsivity, Attention deficit hyperactivity disorder, Emotional lability, ... OMIM:615538
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... ORPHA:3210
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Ver... OMIM:112240
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth OMIM:218650
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Carpenter Syndrome
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... ORPHA:65759
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Sacral dimple, Craniosynostosis, Short neck, Hydrocephalus, Dolichocephaly, Clin... ORPHA:1516
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... OMIM:618736
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysmetria, Gait ataxia, Dysph... OMIM:618093
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Abnormal repetitive mannerisms, Inability to walk, Generalized non-motor (absen... ORPHA:411986
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, Seizure, Status... ORPHA:3006
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Thoracolumbar scoliosis, Craniosynostosis, Scaphocephaly, Hip dislocation, Clubbing,... OMIM:618523
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... OMIM:619451
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ... ORPHA:168491
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:612716
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia, Dystonia OMIM:618729
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Cranioectodermal Dysplasia
Frontal bossing, Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Prominent occi... ORPHA:1515
Craniosynostosis 2
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Brachyceph... OMIM:604757
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia OMIM:614322
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn... ORPHA:85198
Craniotelencephalic Dysplasia
Frontal bossing, Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ... OMIM:612736
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, S... OMIM:619911
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Bowing of the long bones, Epiphyseal stippling, Abnormal ca... ORPHA:1952
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Cli... OMIM:314320
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... ORPHA:457395
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... OMIM:616981
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619301
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Plagiocephaly, Slender long bone, Decreased calvarial ossification, ... OMIM:618265
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Craniofrontonasal Dysplasia
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... ORPHA:1520
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Vertebral clefting, Increased susceptibility to fractures, ... OMIM:241500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracol... OMIM:616723
Chronic Hiccup
Weight loss, Abnormal eating behavior, Depression ORPHA:396
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Scoliosis, Joint hypermobility OMIM:618906
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Seizure, Generalized myoclonic... OMIM:617188
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal... ORPHA:561854
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Failure to thrive OMIM:617162
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Parietal foramina, Myelomeningocele, Short clavicles, ... ORPHA:60015
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Large fontanelles, Abnormal rib ... ORPHA:436
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Unsteady gait, Seizure OMIM:620317
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly... OMIM:618577
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit ... OMIM:619725
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... ORPHA:467166
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio... ORPHA:3369
Harel-Yoon Syndrome
Inability to walk, Ataxia, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Impaired tandem gait, Seizure, Falls, Gait disturbance, Action tr... OMIM:300423
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... OMIM:617976
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p... OMIM:602849
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Greenberg Dysplasia
Abnormally ossified vertebrae, Calvarial skull defect, Abnormal pelvis bone ossification, Anterio... ORPHA:1426
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the r... ORPHA:2117
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... OMIM:607485
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, ... OMIM:614487
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Choreoathetosis, Seizure, Dystonia, Failure to thrive, Myoclonic absence seizure OMIM:616034
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility OMIM:147060
Trigonocephaly 1
Metopic synostosis, Lumbar hemivertebrae, Trigonocephaly, Craniosynostosis OMIM:190440
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71526
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619302
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Large fontanelles, Brach... OMIM:603116
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachycep... ORPHA:2145
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic... OMIM:300912
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... ORPHA:66637
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Craniotelencephalic Dysplasia
Frontal encephalocele, Craniosynostosis OMIM:218670
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia ORPHA:576283
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure OMIM:611603
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... ORPHA:140927
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Sandwich appearan... OMIM:259700
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
16P13.11 Microduplication Syndrome
Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly ORPHA:261243
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Dy... OMIM:613970
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Hydrocephalus, Large fo... ORPHA:171839
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Athetosis, Self-injurious behavior, F... OMIM:617493
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Inability... ORPHA:72
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... ORPHA:503
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... ORPHA:1934
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal bone ossification, B... ORPHA:2645
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Hypoplastic vertebral ... ORPHA:2163
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... OMIM:178110
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiff... ORPHA:83
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Status epilepticus, Gen... OMIM:612164
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait distur... ORPHA:93952
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Brachycephaly, Clinodactyly of the... OMIM:201000
Muenke Syndrome
Tarsal synostosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot... ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... OMIM:616973
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Failure to thrive OMIM:617201
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability to walk, Overweight, G... OMIM:619229
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Seiz... ORPHA:79101
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Generalized non-motor (... OMIM:300260
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Developmental And Epileptic Encephalopathy 110
Bruxism, Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... ORPHA:83468
Spinocerebellar Ataxia Type 10
Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady gait, Focal motor seizur... ORPHA:98761
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... ORPHA:93258
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis OMIM:614732
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure OMIM:226750
Acrocraniofacial Dysostosis
Turricephaly, Craniosynostosis, Tapered finger, Coxa valga, Abnormal form of the vertebral bodies... ORPHA:949
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus OMIM:607876
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Short neck, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dis... OMIM:245600
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Bilateral tonic-clonic seizure, Dystonia OMIM:618237
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysph... ORPHA:313772
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li... OMIM:617166
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... OMIM:180750
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Abnormal sacrum morphology, Brachycephaly, Multiple... ORPHA:207
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Obesity, Seizure, Difficult... ORPHA:464282
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero... OMIM:207410
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Opisthotonus, Seizure, Focal impaired awareness seizure, A... ORPHA:95232
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... ORPHA:536467
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Microcephaly-Micromelia Syndrome
Craniosynostosis, Missing ribs, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial sy... OMIM:251230
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Metaphyseal widening, Dislocated radial head, Joint laxity, Arachnod... OMIM:182212
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Pycnodysostosis
Persistent open anterior fontanelle, Generalized osteosclerosis, Hypoplastic iliac wing, Joint la... ORPHA:763
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... ORPHA:561
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acet... ORPHA:93311
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Temple Syndrome
Small for gestational age, Polyphagia, Obesity ORPHA:254516
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Decreased calvarial ossification, Short clavicles, Corona... OMIM:614592
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Agitation, Polyphagia, Large for gestational age ORPHA:324575
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis ORPHA:531151
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Autosomal Recessive Omodysplasia
Frontal bossing, Abnormal morphology of the radius, Craniosynostosis, Elbow dislocation, Abnormal... ORPHA:93329
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... OMIM:600775
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Obsessive-c... ORPHA:363686
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... ORPHA:296
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... OMIM:612469
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal craniosynostosis, P... ORPHA:2872
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... OMIM:619580
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... OMIM:601853
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Short neck, Ankle flexion contracture, Knee flexion con... ORPHA:284417
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... OMIM:123500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges... OMIM:101600
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... OMIM:101200
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Attention defici... ORPHA:98784
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... ORPHA:93346
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Craniosynostosis, Hyperlordosi... ORPHA:794
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proces... OMIM:252500
Cole-Carpenter Syndrome
Communicating hydrocephalus, Frontal bossing, Turricephaly, Crumpled long bones, Bowing of the lo... ORPHA:2050
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Hypoplastic ischia, Bowing of the legs, Metopic depression, Decreased calvarial ossif... ORPHA:313855
Shprintzen-Goldberg Syndrome
Osteopenia, Frontal bossing, Bowing of the long bones, Communicating hydrocephalus, Arachnodactyl... ORPHA:2462
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... ORPHA:508533
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Thin ribs, Femoral... OMIM:617952
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, ... OMIM:615802
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Gait disturbance, Abnormal repetitiv... ORPHA:457240
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... OMIM:617105
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Obesity, Skin-picking, Polyphagia OMIM:615547
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/ado... OMIM:620224
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Long fingers, Brachycephaly, Scoliosis OMIM:613174
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... ORPHA:1553
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Polyphagia, Obesity ORPHA:179494
Scarf Syndrome
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Joint hyperflexibility, Shor... ORPHA:3134
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Typical absence seizure, Dysme... ORPHA:845
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Hip dislocation, Radioulnar synostosis, Prominent coccyx, Scolio... ORPHA:293843
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... OMIM:600920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Generalized non-motor (absence... OMIM:615398
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Cranioectodermal Dysplasia 4
Frontal bossing, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Broad pha... OMIM:614378
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Turricephaly, Craniosynostosis ORPHA:1496
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Brachyce... ORPHA:254346
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Platybasia, Abnormal vertebral morphol... ORPHA:261197
Macrocephaly-Developmental Delay Syndrome
Clinodactyly of the 5th finger, Frontal bossing, Scaphocephaly, Craniosynostosis ORPHA:397612
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bruxism OMIM:612337
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... OMIM:601707
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Brachycephaly, Coronal craniosynostosis, Calvarial skull defect ORPHA:228390
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Kyph... OMIM:619951
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Limitation ... ORPHA:178303
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe... OMIM:610915
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Brachycephaly, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Ab... ORPHA:95699
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Craniosynostosis OMIM:619076
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis OMIM:605321
Insulinoma
Transient global amnesia, Polyphagia, Increased body weight ORPHA:97279
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... ORPHA:93315
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Chromosome 10Q26 Deletion Syndrome
Frontal bossing, Congenital hip dislocation, Toe syndactyly, Sandal gap, Craniosynostosis, Short ... OMIM:609625
Distal Deletion 10Q
Frontal bossing, Prominent metopic ridge, Lumbar hyperlordosis, Sandal gap, Craniosynostosis, Tap... ORPHA:96148
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Sacral dimple, Preaxial han... ORPHA:2211
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Dpm1-Cdg
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Failure to thrive, ... ORPHA:79322
Baller-Gerold Syndrome
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Abnormal verteb... OMIM:218600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Scoliosis, Short palm, T... OMIM:619184
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
X-Linked Intellectual Disability, Cilliers Type
Clinodactyly of the 5th finger, Coronal craniosynostosis, Small hand ORPHA:163971
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Stillbirth, Abnormality of th... OMIM:276950
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Emotional lability, Polydipsia, Failure to thrive, Polyphagia ORPHA:525731
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... OMIM:616300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly... OMIM:301056
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Anterior plagiocephaly, Bicor... OMIM:619718
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Coxa valga OMIM:616943
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Long toe, Genu recurvatum, Recurrent fractures, Cran... OMIM:130070
Fg Syndrome Type 1
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... ORPHA:93932
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Hydrocephalus, Osteoporosis, Small anterior fontanelle, Widely pate... ORPHA:2409
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Seckel Syndrome
Sandal gap, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflexibility, Hip dysplasia, Scoli... ORPHA:808
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Small hand, Brachycephaly, Camptodactyly... ORPHA:459061
X-Linked Intellectual Disability, Van Esch Type
Clinodactyly of the 5th finger, Coronal craniosynostosis ORPHA:163976
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Infantile spasms, Action tremor, Inability to walk, Focal tonic seizur... ORPHA:404454
Tatton-Brown-Rahman Syndrome
Sagittal craniosynostosis, Patellar subluxation, Umbilical hernia, Scoliosis, Talipes valgus OMIM:615879
Cebalid Syndrome
Polyphagia OMIM:618774
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Seizure, Status epilepticus, F... ORPHA:96147
Scarf Syndrome
Short neck, Abnormal form of the vertebral bodies, Short sternum, Lambdoidal craniosynostosis, Um... OMIM:312830
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Parietal foram... ORPHA:85199
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Large fontanelles, Biparietal narrowing... ORPHA:251038
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Craniosynostosis OMIM:619873
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Joint hypermobility OMIM:619056
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Communicating hydrocephalus, Thickened ribs, Craniosynostosis, Joint st... ORPHA:309282
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia OMIM:602481
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis ORPHA:2314
3Mc Syndrome 2
Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry... OMIM:265050
Aymé-Gripp Syndrome
Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Hydrocephalus, Lim... ORPHA:1272
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Unsteady gait, Bilateral tonic-clo... OMIM:617798
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Frontal bossing, Craniosynostosis ORPHA:1064
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Au-Kline Syndrome
Prominent metopic ridge, Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Craniosynostosi... OMIM:616580
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Cervical kyphosis, Craniosynostosis, Tapered finger, Kyphoscoliosis,... ORPHA:2953
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Kyphosis, Hydrocephalus, Flexion contracture, Scoliosis, Campto... ORPHA:314588
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Opisthotonus, Seizure, Status epilepticus, Foca... OMIM:220120
Coffin-Siris Syndrome 7
Trigonocephaly, Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly OMIM:618027
Craniofrontonasal Syndrome
Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Short neck, ... OMIM:304110
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... ORPHA:466943
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity ORPHA:66628
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
3Mc Syndrome 1
Sacral dimple, Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot,... OMIM:257920
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
15Q Overgrowth Syndrome
Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly... ORPHA:314585
Hamamy Syndrome
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo... OMIM:611174
Meier-Gorlin Syndrome 7
Joint laxity, 2-4 finger syndactyly, Craniosynostosis, Sagittal craniosynostosis, Aplasia/Hypopla... OMIM:617063
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... ORPHA:488613
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... OMIM:213980
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger... OMIM:266920
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Polyphagia, Obesity ORPHA:251004
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Frontal bossing, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia,... ORPHA:166035
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Pica, Generalized non-motor (absence) seizure OMIM:617360
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Progressive flexion contractur... ORPHA:3103
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long fingers, Hydrocep... OMIM:616914
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Sacral dimple, Toe syndactyly, Sandal gap, Craniosynostosis, Abn... ORPHA:235
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis OMIM:616901
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynostosis, Short ... ORPHA:2095
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... OMIM:617281
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Craniosynostosis, Metaph... OMIM:250410
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Dolichocephaly, Umbilical hernia... ORPHA:1555
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxi... OMIM:156200
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
Craniosynostosis And Dental Anomalies
Hallux valgus, Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Broad hallux... OMIM:614188
Pseudoaminopterin Syndrome
Frontal bossing, Brachydactyly, Overlapping toe, Sagittal craniosynostosis, Limited elbow movemen... ORPHA:221120
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Fem... ORPHA:321
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 ... OMIM:614099
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Dysphag... ORPHA:258
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis ORPHA:401986
Frontonasal Dysplasia 2
Encephalocele, Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvar... OMIM:613451
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Hip dysplasia, Branchial an... ORPHA:453499
Teebi Hypertelorism Syndrome 1
Frontal bossing, Coronal craniosynostosis, Small hand, Sagittal craniosynostosis OMIM:145420
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper tantrums, Compulsive behav... ORPHA:398069
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive gait ataxi... ORPHA:329308
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Dystonia, Hypoglyc... ORPHA:480864
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydrocephalus, Abnormal rib morp... ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Spina bifida occulta, Small hand, Short foot, Cutaneous finger syndactyly, Scoliosis,... OMIM:235510
Gangliocytoma
Dementia, Polyphagia ORPHA:251937
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Hypoplasia of the radius, Brachydactyly ORPHA:96097
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Lim... ORPHA:576
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Craniosynostosis, Brachydactyly ORPHA:457193
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion ORPHA:1790
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:98793
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177904
Cranioectodermal Dysplasia 1
Joint laxity, Frontal bossing, Brachydactyly, Broad toe, Short humerus, Sagittal craniosynostosis... OMIM:218330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177901
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation ORPHA:251028
Weaver Syndrome
Seizure, Polyphagia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Failure to thrive, Polyphagia ORPHA:398079
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Proboscis, Craniosynostosis, Postaxial polydactyly, Postaxial han... OMIM:605627
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Craniosynostosis, Sagittal craniosynostosis, P... ORPHA:453504
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... ORPHA:98754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Craniosynostosis, Sagittal craniosynostosis, P... ORPHA:352665
Beare-Stevenson Cutis Gyrata Syndrome
Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Hydrocephalus, Limited elbow e... OMIM:123790
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Joint laxity, Craniosynostosis, Abnormality of the vertebral column, Scoliosis, Tracheomalacia ORPHA:412069
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Cranioectodermal Dysplasia 2
Joint laxity, Frontal bossing, Syndactyly, Cloverleaf skull, Craniosynostosis, Short neck, Postax... OMIM:613610
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Generalized myo... ORPHA:369837
Nablus Mask-Like Facial Syndrome
Frontal bossing, Sandal gap, Craniosynostosis, Tapered finger, Short hallux, Short neck, Camptoda... OMIM:608156
Pseudohypoparathyroidism Type 1C
Confusion, Obesity, Depression, Irritability, Polyphagia ORPHA:79444
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Toe syndactyly, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe syndactyly, Clinodact... OMIM:300707
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Shortening of all distal phalanges of the fingers, Plagiocephaly, Left unicoronal s... OMIM:614749
7Q11.23 Microduplication Syndrome
Sacral dimple, Craniosynostosis, Short neck, Long fingers, Hydrocephalus, Hemivertebrae, Brachyce... ORPHA:96121
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of fin... ORPHA:468631
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... DECIPHER:81
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Craniosynostosis, Dolichocephaly, Clinodactyly of the 5th finger, Clinodactyly OMIM:614114
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Oxycephaly, Craniosynostosis, Short neck OMIM:200995
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Patellar aplasia... ORPHA:2554
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Wide anterior fontanel, Umbilical... OMIM:610199
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... ORPHA:33364
Zttk Syndrome
Frontal bossing, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiver... OMIM:617140
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Aggressive b... ORPHA:268261
Prader-Willi Syndrome
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... OMIM:176270
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Joint dislocation, Prominent fingertip pads, Anomaly of lower limb diaphyses, Arach... ORPHA:363958
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Craniosynostosis, Elbow flexion contracture, Hip dislocation, Patellar h... ORPHA:3132
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Abnormality of the cervical spine, Abnormality of the vertebral... ORPHA:1299
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Compul... ORPHA:404448
Carpenter Syndrome 2
Short neck, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion contracture, Cutaneous f... OMIM:614976
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... ORPHA:468699
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... OMIM:615873
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, H... OMIM:620005
Hartsfield Syndrome
Syndactyly, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Hy... OMIM:615465
Pseudohypoparathyroidism Type 1A
Confusion, Obesity, Depression, Irritability, Polyphagia ORPHA:79443
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Craniosynostosis, Tapered finger, Flexion contracture, Small hand, Brachycephaly... OMIM:309590
Fontaine Progeroid Syndrome
Syndactyly, Turricephaly, Craniosynostosis, Wide anterior fontanel, Hydrocephalus, Brachycephaly,... OMIM:612289
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
X-Linked Acrogigantism
Increased body mass index, Polyphagia ORPHA:300373
Opitz Gbbb Syndrome
Prominent metopic ridge, Craniosynostosis, Large fontanelles, Vertebral segmentation defect, Trac... ORPHA:2745
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Frontal bossing, Craniosynostosis, Short neck, Scoliosis, Joint hypermobility OMIM:617506
Doors Syndrome
11 pairs of ribs, Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal c... ORPHA:79500
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Hydrocephalus, Cervic... OMIM:609192
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Self-in... OMIM:612474
Roberts-Sc Phocomelia Syndrome
Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion c... OMIM:268300
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... OMIM:610168
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Syndactyly, Unilateral brachydactyly, Craniosynostosis ORPHA:1521
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Obesity, Depression, Self-injurious behavior, Compulsive behaviors, Emotiona... ORPHA:293987
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
22Q11.2 Deletion Syndrome
Turricephaly, Arachnodactyly, Spina bifida, Short neck, Hydrocephalus, Meningocele, Multiple sutu... ORPHA:567
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum ORPHA:63260
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Craniosynostosis OMIM:601374
Noonan Syndrome 3
Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos... OMIM:609942
Arboleda-Tham Syndrome
Frontal bossing, Brachydactyly, Sandal gap, Deviation of the hallux, Craniosynostosis, Short hall... OMIM:616268
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... ORPHA:744
Peters-Plus Syndrome
Limited elbow movement, Proximal placement of thumb, Short neck, Short metatarsal, Hemivertebrae,... OMIM:261540
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Sacral dimple, Sandal gap, Craniosynostosis, 2-3 toe syndactyly... ORPHA:363611
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibil... ORPHA:60030
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Frontal bossing, Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, K... ORPHA:500150
Hyperlysinemia
Craniosynostosis ORPHA:2203
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthrit... OMIM:613795
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Cloverleaf skull, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bo... OMIM:201750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Degcags Syndrome
Osteopenia, Syndactyly, Sacral dimple, Toe syndactyly, Craniosynostosis, Short thumb, Preaxial ha... OMIM:619488
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Obesity, Failure to thrive, Atonic seizure OMIM:617157
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis ORPHA:2136
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis ORPHA:79396
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Craniosynostosis, Patellar subluxation, Distal arthrogryposis, Finger ... ORPHA:506358
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder ORPHA:77293
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
1P36 Deletion Syndrome
Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thrive, Abnormal repetitive m... ORPHA:1606
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Brachycephaly, Plagiocephaly, Short middle ... OMIM:607932
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia OMIM:608594
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Obesity, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder OMIM:607872
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia OMIM:269700
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Bruxism ORPHA:48652
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Focal-onset seizure, Inability to walk, Dysphagia, Seizure, Status epil... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Focal-onset seizure, Inability to walk, Dysphagia, Seizure, Atypical absence se... ORPHA:261537
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal-onset seizure, Inability to walk, Dysphagia, Seizure, Atypical absence se... ORPHA:261552
2Q37 Microdeletion Syndrome
Obesity, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repeti... ORPHA:1001
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis ORPHA:2968
Alström Syndrome
Truncal obesity, Polyphagia, Obesity, Cognitive impairment 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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