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 |