Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Gene... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Status epilepticus, Focal-onset seizure, F... |
OMIM:300088 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Ataxia, Myoclonic seizure, Attention deficit hyperactivity disorder, Tremor, At... |
OMIM:616421 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonic status epilepticus, Ataxia, Difficulty walking, Loss of ambulation, Bilateral tonic-clo... |
OMIM:614018 |
Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
Developmental And Epileptic Encephalopathy 43 |
|
Infantile spasms, Hyperactivity, Ataxia, Myoclonic seizure, Attention deficit hyperactivity disor... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 74 |
|
Infantile spasms, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral t... |
OMIM:618396 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... |
OMIM:600512 |
Perioral Myoclonia With Absences |
|
Focal seizure with eyelid myoclonia, Falls, Bilateral tonic-clonic seizure, Generalized myoclonic... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Focal-onset seizure, Ataxia, Myoclonic seizure, Clonic seizure, Febrile seizu... |
OMIM:615871 |
Dravet Syndrome |
|
Generalized clonic seizure, Status epilepticus, Ataxia, Myoclonic seizure, Focal hemiclonic seizu... |
OMIM:607208 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Focal-onset seizure, Myoclonic seizure, Broad-based gait, Attention deficit hyperactivity disorde... |
OMIM:619157 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gait at... |
OMIM:618587 |
Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Status epilepticus, Abnormal eating behavior, Focal-onset seizure, Hy... |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 67 |
|
Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Genera... |
OMIM:618141 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... |
OMIM:607682 |
Frontotemporal Dementia |
|
Polyphagia, Apathy, Disinhibition, Dementia, Frontal lobe dementia, Irritability, Frontotemporal ... |
OMIM:600274 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Status epilepticus, Generalized non-motor (absence) seizure, Bilateral t... |
OMIM:254770 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months ... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 31A |
|
Inability to walk, Difficulty walking, Myoclonic seizure, Focal impaired awareness seizure, Tonic... |
OMIM:616346 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Focal impaired awar... |
OMIM:616172 |
Epilepsy, Idiopathic Generalized |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... |
OMIM:600669 |
Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Ataxia, Myoclonic seizure, Focal motor seizure, Attention deficit hyperactivi... |
OMIM:617665 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure on awakening, Generalized non-motor (absence) seizure, Generalized... |
OMIM:607631 |
Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Focal-onset seizure, Focal clonic seizure, Focal hemiclonic seizure, F... |
ORPHA:725 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:618357 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:616685 |
Pick Disease Of Brain |
|
Polyphagia, Apathy, Disinhibition, Frontotemporal dementia, Irritability, Emotional blunting, Dim... |
OMIM:172700 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... |
OMIM:607628 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizu... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure,... |
OMIM:615369 |
Lennox-Gastaut Syndrome |
|
Focal-onset seizure, Hyperactivity, Falls, Bilateral tonic-clonic seizure, Generalized myoclonic ... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Clonic seizure, Agitation, Focal impaired awareness seizure, Tonic seizure, Epilep... |
OMIM:619970 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware cognitive seizure with forced thinki... |
OMIM:616461 |
Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, ... |
ORPHA:306 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia |
ORPHA:22 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic... |
OMIM:620145 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:613863 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Developmental And Epileptic Encephalopathy 33 |
|
Unsteady gait, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Typical absenc... |
OMIM:616409 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-mo... |
OMIM:604233 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Seizure, Generalized non-motor (absence) s... |
OMIM:609446 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... |
OMIM:615400 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized clonic seizure, Hyperactivity,... |
ORPHA:98818 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:613060 |
Episodic Ataxia, Type 5 |
|
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... |
OMIM:613855 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Seizure, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Dyst... |
ORPHA:98811 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure,... |
OMIM:617836 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Infantile spasms, Focal-onset seizure, Generalized-onset seizure, Paroxysmal choreoathetosis, Foc... |
OMIM:602066 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... |
ORPHA:1941 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:609800 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Focal-onset seizure, Ataxia, Generalized-onset seizure, Febrile seizure (with... |
ORPHA:36387 |
Developmental And Epileptic Encephalopathy 54 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptom... |
OMIM:617391 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:254800 |
Lissencephaly 10 |
|
Torticollis, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized-onse... |
OMIM:618873 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Myoclonus |
OMIM:616187 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Eyelid myoclonus, Inabilit... |
ORPHA:2590 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Focal-onset seizure, Inability to walk, Ataxia, Myoclonic seizure, Foc... |
OMIM:619317 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity di... |
ORPHA:86909 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Depression, Negative affectivity, Aggressive behavior |
ORPHA:468726 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Generalized-onset seizure, Febrile seizure (within the age range of 3 months ... |
ORPHA:307 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal... |
OMIM:614417 |
Developmental And Epileptic Encephalopathy 52 |
|
Limb ataxia, Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 yea... |
OMIM:617350 |
Developmental And Epileptic Encephalopathy 57 |
|
Tonic seizure, Epileptic spasm, Generalized myoclonic seizure, Seizure, Atypical absence seizure |
OMIM:617771 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Torticollis, Myoclonic absence seizure, Bilateral tonic-clonic seizure |
OMIM:612621 |
Developmental And Epileptic Encephalopathy 19 |
|
Status epilepticus, Myoclonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure... |
OMIM:615744 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Myoclonic seizure, Bilateral tonic-clonic seizure, Tremor, Atonic seizure, Gai... |
OMIM:617810 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Infantile spasms, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 15 |
|
Focal clonic seizure, Inability to walk, Myoclonic seizure, Tonic seizure, Epileptic spasm, Bilat... |
OMIM:615006 |
Developmental And Epileptic Encephalopathy 13 |
|
Generalized clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Foca... |
OMIM:614558 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Seizure, Generalized non-motor (absence) seizure, Obesity |
OMIM:613886 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Focal motor seizure, Bilateral tonic-clonic seizure, Writer's cramp, Focal hemifacia... |
OMIM:608105 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... |
OMIM:600593 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Difficulty walking, Bilateral tonic-clonic seizure, Tremor, Myoclonus |
OMIM:613608 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Myoclonic Epilepsy, Familial Infantile |
|
Limb ataxia, Focal-onset seizure, Ataxia, Impaired tandem gait, Febrile seizure (within the age r... |
OMIM:605021 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
OMIM:104290 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis, Hydrocephalus |
OMIM:123155 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Slender build, Ataxia |
OMIM:617709 |
Kleeblattschaedel |
|
Craniosynostosis, Cloverleaf skull, Elbow ankylosis, Hydrocephalus |
OMIM:148800 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Episo... |
OMIM:618924 |
Developmental And Epileptic Encephalopathy 103 |
|
Eyelid myoclonus, Hyperactivity, Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Ton... |
OMIM:619913 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... |
ORPHA:96369 |
Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:605751 |
Seizures, Benign Familial Infantile, 5 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
Chromosome 2Q35 Duplication Syndrome |
|
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... |
OMIM:185900 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, Myoclonus |
ORPHA:86814 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia |
OMIM:618425 |
Summitt Syndrome |
|
Craniosynostosis, Syndactyly, Oxycephaly |
OMIM:272350 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Hyperactivity, Tonic seizure, Bilateral tonic-clonic seizure... |
OMIM:618090 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure... |
OMIM:619616 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivi... |
ORPHA:35878 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure |
OMIM:619639 |
Bilateral Generalized Polymicrogyria |
|
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Generalized-onset se... |
ORPHA:208447 |
Craniosynostosis, Philadelphia Type |
|
Craniosynostosis, Finger syndactyly |
ORPHA:1527 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... |
ORPHA:101046 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Focal hemiclonic seizure, Focal impair... |
OMIM:619606 |
Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure, Convu... |
OMIM:617389 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 91 |
|
Status epilepticus, Unsteady gait, Myoclonic seizure, Focal motor seizure, Tonic seizure, Bilater... |
OMIM:617711 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic ... |
OMIM:271980 |
Aurocephalosyndactyly |
|
Craniosynostosis, 4-5 toe syndactyly |
OMIM:109050 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generali... |
ORPHA:382 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valg... |
OMIM:601370 |
Craniosynostosis 3 |
|
Bicoronal synostosis, Left unicoronal synostosis, Hallux valgus, Right unicoronal synostosis, Sag... |
OMIM:615314 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Focal-onset seizure, Inability to walk, Difficulty walking, Focal impaired aw... |
ORPHA:330050 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Gait disturbance, Falls, Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus... |
OMIM:616230 |
Huntington Disease |
|
Polyphagia, Decreased body mass index, Suicidal ideation, Apathy, Agitation, Disinhibition, Alcoh... |
ORPHA:399 |
Symphalangism, Distal |
|
Craniosynostosis, Distal foot symphalangism, Absent dorsal skin creases over affected joints, Dis... |
OMIM:185700 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Dravet Syndrome |
|
Generalized clonic seizure, Focal-onset seizure, Focal hemiclonic seizure, Febrile seizure (withi... |
ORPHA:33069 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal seizure with eyelid ... |
ORPHA:139431 |
Rolandic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Febrile seizure (within the... |
ORPHA:1945 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Dolichocephaly, Orbital craniosynostosis, Hydrocephalus |
ORPHA:1538 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619000 |
Huntington Disease-Like 1 |
|
Unsteady gait, Restlessness, Anxiety, Dementia, Aggressive behavior, Depression, Dysmetria |
OMIM:603218 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Brachycephaly, Occipital encephalocele, Humeroradial synostosis, ... |
OMIM:614416 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cloni... |
OMIM:617106 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... |
ORPHA:101070 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-mot... |
OMIM:619338 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Restlessness |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:604352 |
Myoclonic-Astatic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Hyperactivity, Ataxia... |
ORPHA:1942 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal-onset seizure, Clonic seizure, Focal impaired awareness seizure, Attention deficit hyperact... |
OMIM:617935 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Huntington Disease-Like 2 |
|
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Irritability, Memory impairment, Bradyk... |
OMIM:606438 |
Greig Cephalopolysyndactyly Syndrome |
|
Trigonocephaly, 1-3 toe syndactyly, Preaxial foot polydactyly, Broad thumb, Dolichocephaly, Preax... |
OMIM:175700 |
Craniosynostosis 6 |
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Craniosynostosis, Bicoronal synostosis, Plagiocephaly, Scoliosis, Brachycephaly, Turricephaly, Ri... |
OMIM:616602 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Craniosynostosis, Increased bone mineral density, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
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Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus |
OMIM:162350 |
Craniosynostosis 1 |
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Craniosynostosis, Biparietal narrowing, Right unicoronal synostosis, Oxycephaly, Prominent occipu... |
OMIM:123100 |
Leptin Receptor Deficiency |
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Polyphagia, Abnormal eating behavior, Emotional lability, Aggressive behavior, Obesity |
OMIM:614963 |
Developmental And Epileptic Encephalopathy 27 |
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Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure, My... |
OMIM:616139 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Ataxia, Multifocal seizures, Bilateral tonic-clonic seizure, Seizure, Intention tremor, Generaliz... |
OMIM:618170 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Unsteady gait, Truncal ataxia |
OMIM:608636 |
Paroxysmal Kinesigenic Dyskinesia |
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Writer's cramp, Athetosis, Seizure, Focal sensory seizure, Dystonia |
ORPHA:98809 |
Chorea, Benign Hereditary |
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Anxiety, Dementia, Gait disturbance |
OMIM:118700 |
Epilepsy, Familial Temporal Lobe, 4 |
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Focal impaired awareness seizure, Focal sensory seizure with visual features, Focal aware seizure |
OMIM:611631 |
Hypophosphatasia, Childhood |
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Craniosynostosis, Rachitic rosary, Dolichocephaly, Frontal bossing, Bowing of the legs |
OMIM:241510 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Polyphagia, Aggressive behavior, Obesity |
ORPHA:329249 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
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Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to thrive |
OMIM:616281 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
OMIM:619065 |
Greig Cephalopolysyndactyly Syndrome |
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Craniosynostosis, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly,... |
ORPHA:380 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor ... |
OMIM:619854 |
Acromesomelic Dysplasia, Maroteaux Type |
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Scoliosis, Joint stiffness, Ovoid vertebral bodies, Bowing of the long bones, Vertebral wedging, ... |
ORPHA:40 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Infantile Convulsions And Choreoathetosis |
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Focal-onset seizure, Focal impaired awareness seizure, Complex febrile seizure, Experiential epil... |
ORPHA:31709 |
Cortical Malformations, Occipital |
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Bilateral tonic-clonic seizure, Focal impaired awareness automatism seizure |
OMIM:614115 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Slender build, Hyperactivity, Myoclonic seizure, Focal impaired awareness seizure, Attention defi... |
OMIM:617600 |
Isolated Focal Cortical Dysplasia |
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Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generaliz... |
ORPHA:65683 |
Developmental And Epileptic Encephalopathy 11 |
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Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure |
OMIM:613721 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
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Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
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Bilateral tonic-clonic seizure |
OMIM:608217 |
Developmental And Epileptic Encephalopathy 59 |
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Infantile spasms, Focal clonic seizure, Inability to walk, Ataxia, Focal impaired awareness seizu... |
OMIM:617904 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
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Unsteady gait, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Ga... |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 12 |
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Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:613722 |
Seizures, Benign Familial Infantile, 3 |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... |
OMIM:607745 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Gait ataxia, Myoclonus |
OMIM:615362 |
Epilepsy, Pyridoxine-Dependent |
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Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Clonic seizure |
OMIM:266100 |
Craniosynostosis 7 |
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Craniosynostosis |
OMIM:617439 |
Craniosynostosis 5, Susceptibility To |
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Craniosynostosis |
OMIM:615529 |
Developmental And Epileptic Encephalopathy 18 |
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Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Generalized-onset seizure, ... |
OMIM:615476 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Polyphagia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity |
OMIM:616521 |
Epilepsy, Progressive Myoclonic, 9 |
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Status epilepticus, Action myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizu... |
OMIM:616540 |
Hip Dysplasia, Beukes Type |
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Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Abnormal epiphysis morph... |
ORPHA:2114 |
Encephalopathy Due To Prosaposin Deficiency |
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Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:139406 |
Dystonia 11, Myoclonic |
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Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression |
OMIM:159900 |
Osteomesopyknosis |
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Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... |
ORPHA:2777 |
Pseudoachondroplasia |
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Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... |
ORPHA:750 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
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Difficulty walking, Generalized non-motor (absence) seizure, Ataxia |
OMIM:618242 |
Dystonia 12 |
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Emotional lability, Unsteady gait, Anxiety, Dysphagia, Bradykinesia, Depression |
OMIM:128235 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Infantile spasms, Progressive cerebellar ataxia, Hyperactivity, Unsteady gait, Focal impaired awa... |
ORPHA:485350 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Jackson-Weiss Syndrome |
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Broad metatarsal, Craniosynostosis, Coronal craniosynostosis, Calcaneonavicular fusion, Broad dis... |
OMIM:123150 |
Developmental And Epileptic Encephalopathy 98 |
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Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, Focal-onset seizu... |
OMIM:619605 |
Cole-Carpenter Syndrome 2 |
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Coronal craniosynostosis, Hydrocephalus, Thin ribs, Kyphosis, Osteopenia, Wormian bones, Platyspo... |
OMIM:616294 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit h... |
OMIM:301008 |
Salt And Pepper Developmental Regression Syndrome |
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Status epilepticus, Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Choreoathetosis |
OMIM:609056 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Apathy, Falls, Anxiety, Memory impairment, Bradykinesia, Mental deterioration, Neuromuscular dysp... |
ORPHA:240085 |
Cole-Carpenter Syndrome 1 |
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Coronal craniosynostosis, Scoliosis, Reduced bone mineral density, Hydrocephalus, Communicating h... |
OMIM:112240 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
Intellectual Developmental Disorder, X-Linked 30 |
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Hyperactivity, Restlessness, Agitation, Bilateral tonic-clonic seizure, Seizure, Generalized non-... |
OMIM:300558 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
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Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Kleine-Levin Hibernation Syndrome |
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Polyphagia |
OMIM:148840 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m... |
OMIM:614078 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
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Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus without prominent... |
OMIM:204300 |
Obesity Due To Sim1 Deficiency |
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Polyphagia, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Ob... |
ORPHA:369873 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
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Craniosynostosis, Hydrocephalus, Short neck, Umbilical hernia, Sacral dimple, Dolichocephaly, Fro... |
ORPHA:1516 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
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Status epilepticus, Bilateral tonic-clonic seizure, Agitation |
OMIM:617171 |
Seizures, Benign Familial Infantile, 1 |
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Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... |
OMIM:601764 |
Epiphyseal Dysplasia, Multiple, 6 |
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Irregular vertebral endplates, Flat distal femoral epiphysis, Abnormality of the knee, Schmorl's ... |
OMIM:614135 |
Endosteal Hyperostosis, Worth Type |
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Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnorma... |
ORPHA:2790 |
Summitt Syndrome |
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Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Prominent metopic ridge, Finger syndact... |
ORPHA:3210 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Epilepsy, Familial Temporal Lobe, 6 |
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Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:615697 |
Epilepsy, Familial Temporal Lobe, 2 |
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Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:608096 |
Carpenter Syndrome |
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Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Umbilical hernia, Finger syndactyly,... |
ORPHA:65759 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... |
ORPHA:412066 |
Pyridoxine-Dependent Epilepsy |
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Status epilepticus, Focal-onset seizure, Restlessness, Focal aware motor seizure, Epileptic spasm... |
ORPHA:3006 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
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Bradykinesia, Anxiety, Attention deficit hyperactivity disorder |
OMIM:618878 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Bicoronal synostosis, Scoliosis, Brachycephaly, Flat occiput, Lambdoidal craniosynostosis, Delaye... |
OMIM:618736 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Abnormal eating behavior, Myoclonic absence seizure, Gait disturbance, Ataxia, Generalized-onset ... |
ORPHA:544254 |
Chromosome 22Q13 Duplication Syndrome |
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Polyphagia, Emotional lability, Bipolar affective disorder, Attention deficit hyperactivity disor... |
OMIM:615538 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Hand tremor, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Broad-based gait |
OMIM:617862 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Bilateral coxa valga, Abnormality of the knee, Abnormal ilium morphology, Platyspondyly, Restrict... |
ORPHA:163665 |
Yoon-Bellen Neurodevelopmental Syndrome |
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Infantile spasms, Status epilepticus, Inability to walk, Ataxia, Bilateral tonic-clonic seizure, ... |
OMIM:619701 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Episodic ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
ORPHA:53583 |
Lipoid Proteinosis Of Urbach And Wiethe |
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Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Craniosynostosis, Scoliosis, Hip dislocation, Clubbing, Thoracolumbar scoliosis, Arthropathy, Sca... |
OMIM:618523 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Polyphagia, Apathy, Agitation, Disinhibition, Frontotemporal dementia, Progressive language deter... |
OMIM:607485 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Craniosynostosis, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Genu varum, Ovoid vertebral b... |
OMIM:619451 |
Spinocerebellar Ataxia 48 |
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Ataxia, Bilateral tonic-clonic seizure, Cachexia, Tremor, Dysphagia, Gait ataxia, Dystonia, Dysme... |
OMIM:618093 |
Oxoglutarate Dehydrogenase Deficiency |
|
Unsteady gait, Falls, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, Dysmetria |
OMIM:203740 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Inability to walk, Focal impaired awareness seizure, Atonic seizure, Generalize... |
ORPHA:411986 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... |
ORPHA:1802 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:301076 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic sp... |
OMIM:618497 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia, Dystonia |
OMIM:618729 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Midface retrusion, Brachycephaly, Hydrocephalus |
OMIM:612247 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Bilateral tonic-clonic seizure, Ataxia |
OMIM:614322 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Unilateral Hemispheric Polymicrogyria |
|
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seiz... |
ORPHA:101071 |
Cranioectodermal Dysplasia |
|
Craniosynostosis, Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal diaphy... |
ORPHA:1515 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal impaired awarene... |
OMIM:619428 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Failure to thrive, Athetosis, Decrea... |
OMIM:614559 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Frontal bossing, Arrhinencephaly |
ORPHA:1528 |
Craniosynostosis 2 |
|
Craniosynostosis, Bicoronal synostosis, Brachycephaly, Trigonocephaly, Metopic synostosis, Wormia... |
OMIM:604757 |
Dysspondyloenchondromatosis |
|
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Multiple enchondromatosis,... |
ORPHA:85198 |
Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:616341 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:100988 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure, Resting tremor, Fr... |
OMIM:619911 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Failure to thrive |
OMIM:617082 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, ... |
OMIM:616981 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:615637 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Small anterior fontanelle, Premature posterior fontanelle closure, Trigonocephaly, Lambdoidal cra... |
OMIM:314320 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Large for gestational age, Obesity |
OMIM:617119 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Hyperactivity, Irritability, Weight loss |
OMIM:275000 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... |
ORPHA:457395 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Happy demeanor, Hyperactivity, Obesity |
ORPHA:411515 |
Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Hump-shaped mound of bone ... |
ORPHA:93284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Plagiocephaly, Trigonocephaly, Thin ribs, Slender long bone, Decreased calvaria... |
OMIM:618265 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... |
OMIM:609813 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Abnormal cortical bone morpho... |
ORPHA:2635 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... |
ORPHA:93323 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Rachitic rosary, Short lower limbs, Metaphyseal cupping, Short ribs, Platyspond... |
OMIM:241500 |
Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Scol... |
ORPHA:1520 |
Familial Focal Epilepsy With Variable Foci |
|
Infantile spasms, Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic s... |
ORPHA:98820 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Failure to thrive, Tremor, Seizure, Dysphagia |
OMIM:617162 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Ulnar deviation of the wrist, Scoliosis, Brachycephaly, Hydrocephalus, Midface ret... |
OMIM:618577 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
ORPHA:208441 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Limited elbow extension, Scoliosis, Narrow pelvis bone, Short neck, Thoracolumb... |
OMIM:616723 |
X-Linked Hypophosphatemia |
|
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... |
ORPHA:89936 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Focal-onset seizure, Inability to walk, Generalized-onset seizure, Febrile seizure (within the ag... |
OMIM:617188 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Arrhinencephaly, Frontal encephalocele |
OMIM:218670 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Gait... |
OMIM:254780 |
Tubulinopathy-Associated Dysgyria |
|
Infantile spasms, Ataxia, Attention deficit hyperactivity disorder, Generalized non-motor (absenc... |
ORPHA:467166 |
Lafora Disease |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal s... |
ORPHA:501 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-cl... |
OMIM:300607 |
Pontocerebellar Hypoplasia, Type 14 |
|
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Dystonia |
OMIM:619301 |
Hypophosphatasia |
|
Craniosynostosis, Abnormal metaphysis morphology, Large fontanelles, Abnormal rib morphology, Rec... |
ORPHA:436 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Myelomeningocele, Occipital encephalocele, Short clavicles, Broad thumb, Pariet... |
ORPHA:60015 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Anxiety, Dementia, Depression |
OMIM:605909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Falls, Impaired tandem gait, Bilateral tonic-clonic seizure, Seizure, Action tr... |
OMIM:300423 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small anterior fontanelle, Multiple suture craniosynostosis, Trigonocephaly, Fifth finger distal ... |
ORPHA:3369 |
Harel-Yoon Syndrome |
|
Ataxia, Generalized non-motor (absence) seizure, Inability to walk, Dystonia |
OMIM:617183 |
Developmental And Epileptic Encephalopathy 63 |
|
Inability to walk, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... |
OMIM:617976 |
Greenberg Dysplasia |
|
Calvarial skull defect, Abnormal form of the vertebral bodies, Midface retrusion, Platyspondyly, ... |
ORPHA:1426 |
Muenke Syndrome |
|
Clinodactyly, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Thimble-shaped middle phala... |
OMIM:602849 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Focal-onset seizure, Inability to walk, Gait disturbance, Myoclonic seizure, Ataxia, Hyperactivit... |
ORPHA:168491 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysdiadochokinesis, Spasti... |
OMIM:614487 |
Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Split hand, Aplasia/Hypoplasia of the r... |
ORPHA:2117 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Focal-onset seizure, Ataxia, Myoclonic seizure, Generalized-onset seizure, Loss of ambulation, Dy... |
OMIM:620166 |
Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Abnormal metaphysis morphology, Fl... |
ORPHA:1306 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Craniosynostosis, Joint hypermobility, Osteopenia |
OMIM:616721 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... |
OMIM:612736 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Limb myoclonus, Progressive cerebellar ataxia, Febrile seizure (withi... |
ORPHA:263516 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Seizure precipitated by febrile infectio... |
ORPHA:363549 |
Trigonocephaly 1 |
|
Lumbar hemivertebrae, Trigonocephaly, Metopic synostosis, Craniosynostosis |
OMIM:190440 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Craniosynostosis, Scoliosis, Osteopenia, Joint hypermobility, Recurrent fractures, Frontal bossing |
OMIM:147060 |
Cdags Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Short ribs, Large fontanelles, Kyphosis, Short clavicles... |
OMIM:603116 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Decreased body weight, Failure to thrive |
OMIM:620085 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachycephaly, Finger syndactyly, Abnormal rib morphology, Turricephaly, Split ... |
ORPHA:2145 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Infantile spasms, Bilateral tonic-clonic seizure, Broad-based gait, Inability to walk |
OMIM:618470 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Focal-onset seizure, Inability to walk, Clonic seizure, Febrile seizure (within the age range of ... |
OMIM:618917 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Failure to thrive, Seiz... |
OMIM:604317 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Hydrocephalus, Femur fract... |
OMIM:259700 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... |
ORPHA:64280 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Dysphagia,... |
ORPHA:98795 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure |
OMIM:611603 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility, Scoliosis |
OMIM:618906 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Hydrocephalus, Umbilical hernia, Large fontanelles, Toe syndacty... |
ORPHA:171839 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Dysphagia, Seizure, Attention deficit hyperactivity disorder, Typical absence seizure |
ORPHA:576283 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Tremor, Seizure, Choreoathetosis, Dystonia |
OMIM:612716 |
Pontocerebellar Hypoplasia, Type 15 |
|
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Dystonia |
OMIM:619302 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure with focal onset, Inability to walk, Focal motor status epilepticu... |
OMIM:619881 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Plagiocephaly, Short distal phalanx of finger, Brachycephaly, Hypoplastic verte... |
ORPHA:2163 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Seizure, Dy... |
OMIM:613970 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Choreoathetosis |
ORPHA:726 |
Lowry-Maclean Syndrome |
|
Craniosynostosis |
OMIM:600252 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... |
OMIM:177170 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Focal-onset seizure, Gait ... |
ORPHA:352582 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, ... |
OMIM:252600 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Larsen Syndrome |
|
Craniosynostosis, Short distal phalanx of finger, Scoliosis, Laryngotracheomalacia, Large joint d... |
ORPHA:503 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure |
ORPHA:163985 |
16P13.11 Microduplication Syndrome |
|
Craniosynostosis, Hand polydactyly, Dolichocephaly, Joint hyperflexibility, Arachnodactyly |
ORPHA:261243 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal bone ossification, B... |
ORPHA:2645 |
Muenke Syndrome |
|
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Carpal synostosis, Cone-sh... |
ORPHA:53271 |
Developmental And Epileptic Encephalopathy 4 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Epileptic spas... |
OMIM:612164 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Gait disturbance, Unsteady gait, Obesity, Bilateral tonic-clonic seizure, Aton... |
ORPHA:93952 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Arthrogryposis multiplex congenita,... |
OMIM:178110 |
Antley-Bixler Syndrome |
|
Craniosynostosis, Elbow ankylosis, Camptodactyly of finger, Brachycephaly, Joint stiffness, Delay... |
ORPHA:83 |
Spinocerebellar Ataxia 29 |
|
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Focal impaired awareness sei... |
OMIM:117360 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit hyperacti... |
OMIM:618354 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive |
ORPHA:71526 |
Carpenter Syndrome 1 |
|
Scoliosis, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Toe... |
OMIM:201000 |
Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Ataxia, Failure to thrive, Seizure, Generalized non-motor (absence) seizure |
OMIM:617201 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Irritability, ... |
ORPHA:3077 |
Early Infantile Epileptic Encephalopathy |
|
Generalized clonic seizure, Infantile spasms, Focal-onset seizure, Hyperactivity, Febrile seizure... |
ORPHA:1934 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Large for gestational age, Obesity |
OMIM:240900 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Infantile spasms, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Athetosis, Dy... |
OMIM:617493 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Perry Syndrome |
|
Inappropriate behavior, Suicidal ideation, Apathy, Short stepped shuffling gait, Disinhibition, A... |
OMIM:168605 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Pathologic fracture, Unicameral bone cyst, Abnormal ilium morphology... |
ORPHA:83468 |
Pfeiffer Syndrome Type 1 |
|
Bicoronal synostosis, Brachycephaly, Hallux varus, Aqueductal stenosis, Finger syndactyly, Aplasi... |
ORPHA:93258 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Abnormality of the first metatarsal bone, Synostosis of joints, Spinal rigidity, A... |
ORPHA:337 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Eyelid myoclonus, Absence seizure with eyelid myoclonia, Generalized non-motor (absence) ... |
OMIM:613839 |
Kohlschutter-Tonz Syndrome |
|
Focal-onset seizure, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure |
OMIM:226750 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Craniosynostosis, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteopenia |
OMIM:614732 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic se... |
OMIM:619835 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Short distal phalanx of finger, Partial duplication of the distal phalanx of th... |
ORPHA:949 |
Developmental And Epileptic Encephalopathy 47 |
|
Status epilepticus, Limb ataxia, Focal-onset seizure, Inability to walk, Gait disturbance, Agitat... |
OMIM:617166 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Shoulder dislocation, Knee dis... |
OMIM:245600 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysdiadochokinesis, Dyspha... |
ORPHA:313772 |
Foxg1 Syndrome |
|
Infantile spasms, Status epilepticus, Focal-onset seizure, Inability to walk, Difficulty walking,... |
ORPHA:561854 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Multiple suture craniosynostosis, Brachycephaly, Hydrocephalus, Midfa... |
ORPHA:207 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Dystonia, Failure to thrive |
OMIM:618237 |
Kohlschutter-Tonz Syndrome-Like |
|
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Inability to walk, Ataxia, A... |
OMIM:619229 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Blepharospasm, Bilateral tonic-clonic seizure, Tremor, Myoclonus |
OMIM:607876 |
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Limited elbow extension, Scoliosis, Hip dislocation, Hip dysplasia, Ulnar deviation of finger, Hy... |
ORPHA:93359 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... |
ORPHA:168782 |
Developmental And Epileptic Encephalopathy 93 |
|
Infantile spasms, Focal-onset seizure, Inability to walk, Gait disturbance, Clonic seizure, Myocl... |
OMIM:618012 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Unsteady gait, Ataxia, Difficulty walking, Bilateral tonic-clonic seizure, Generalized myoclonic ... |
ORPHA:464282 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Camptodactyly, Coronal craniosynostosis, Flexion contracture, Brachycephaly, Hydrocephalus, Wide ... |
OMIM:207410 |
Hyperprolinemia Type 2 |
|
Status epilepticus, Unsteady gait, Generalized-onset seizure, Febrile seizure (within the age ran... |
ORPHA:79101 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... |
OMIM:305620 |
Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Hallux valgus, Broad thumb, Broad hallux, Pansynostosis, Duplica... |
OMIM:180750 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Focal-onset seizure, Febrile seizure (within the age range of 3 months... |
ORPHA:289266 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Epileptic spasm |
ORPHA:3051 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Infantile spasms, Limb dystonia, Status epilepticus, Focal-onset seizure, Inability to walk, Myoc... |
OMIM:616973 |
Lissencephaly Due To Lis1 Mutation |
|
Infantile spasms, Focal impaired awareness seizure, Focal motor seizure, Generalized myoclonic se... |
ORPHA:95232 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Epileptic spasm, Athetosis, Failur... |
ORPHA:79351 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Large joint dislocations, Kypho... |
ORPHA:536467 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Short neck, Missing ribs, Aqu... |
OMIM:251230 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Scoliosis, Abnormality of fibula mor... |
ORPHA:3344 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Squared-off platyspondyly, Metaphyseal irregularity, Bowing of the legs, Generalized b... |
ORPHA:93352 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Brachyturricephaly, Thin ribs, Dolichocephaly, Supernumerary ribs, Joint contracture o... |
OMIM:182212 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Focal-onset seizure, Gait disturbance, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclo... |
ORPHA:395 |
Spinocerebellar Ataxia Type 10 |
|
Status epilepticus, Kinetic tremor, Progressive cerebellar ataxia, Unsteady gait, Generalized-ons... |
ORPHA:98761 |
Pycnodysostosis |
|
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Spondylolisthes... |
ORPHA:763 |
Wagro Syndrome |
|
Polyphagia, Emotional lability, Agitation, Anxiety, Low frustration tolerance, Aggressive behavio... |
OMIM:612469 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Nocturnal seizu... |
OMIM:619725 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Hip dysplasia, Genu varum, Abnormal hip joint morphology, Avascular necrosis of the capital femor... |
ORPHA:93311 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Reduced bone mineral density, Scoliosis, Slender long bone, Increased susceptib... |
ORPHA:561 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Scoliosis, Hip dysplasia, Polydactyly, Vertebral segmentation defect |
ORPHA:531151 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:609924 |
Insulinoma |
|
Polyphagia, Anxiety, Increased body weight, Transient global amnesia |
ORPHA:97279 |
Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Short clavicles, Midface retrusion, Decreased calvarial ossification, B... |
OMIM:614592 |
Ollier Disease |
|
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Multiple enchondromatosis, Platyspon... |
ORPHA:296 |
Angelman Syndrome |
|
Polyphagia, Infantile spasms, Status epilepticus, Inability to walk, Hyperactivity, Ataxia, Gener... |
ORPHA:72 |
Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Abnormal metaphysis morphology, Abnormal morphology of the radius, Pterygium, H... |
ORPHA:93329 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Craniosynostosis 4 |
|
Bicoronal synostosis, Coronal craniosynostosis, Metopic synostosis, Midface retrusion, Lambdoidal... |
OMIM:600775 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Infantile spasms, Limb dystonia, Inability to walk, Bilateral tonic-clonic seizure, Generalized m... |
ORPHA:457351 |
Crouzon Syndrome |
|
Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Midface retrusion, Lambdoidal craniosynos... |
OMIM:123500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Status epilepticus, Inability to walk, Ataxia, Tonic seizure, Dysphagia, Seizure, Generalized non... |
OMIM:300260 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Status epilepticus, Difficulty walking, Bilateral tonic-clonic seizure, Tremor, Seizure, Gait ata... |
ORPHA:529665 |
Pfeiffer Syndrome |
|
Cloverleaf skull, Elbow ankylosis, Coronal craniosynostosis, Hydrocephalus, Brachyturricephaly, F... |
OMIM:101600 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Umbilical hernia, Slender finger, Dolichocephaly, Contracture of the... |
ORPHA:2872 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Brachycephaly, Wide anterior fontanel, Wormian bones, Midface retrusion, Skull ... |
OMIM:601853 |
Schaaf-Yang Syndrome |
|
Polyphagia, Failure to thrive in infancy, Skin-picking, Impulsivity, Obesity |
OMIM:615547 |
Apert Syndrome |
|
Brachyturricephaly, Broad thumb, Preaxial hand polydactyly, Sagittal craniosynostosis, Cutaneous ... |
OMIM:101200 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Infantile spasms, Status epilepticus, Hyperactivity, Ataxia, Tonic seizure, Bilateral tonic-cloni... |
OMIM:300912 |
Developmental And Epileptic Encephalopathy 110 |
|
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure |
OMIM:620149 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity, Self-injurious behavior |
ORPHA:228402 |
Cole-Carpenter Syndrome |
|
Scoliosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Communicating h... |
ORPHA:2050 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Short neck, Knee flexion contracture, Ankle flexion contracture, Limb joint con... |
ORPHA:284417 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Kniest Dysplasia |
|
Lumbar kyphoscoliosis, Hip dislocation, Enlarged joints, Hypoplastic pelvis, Tibial bowing, Coxa ... |
OMIM:156550 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Cervical instability, Laryngotracheomalacia, Small epiphyses, Delayed ossification of carpal bone... |
ORPHA:93346 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Frontal bossing, Brachycephaly |
ORPHA:314575 |
Luscan-Lumish Syndrome |
|
Polyphagia, Anxiety, Aggressive behavior, Obesity |
OMIM:616831 |
Fgfr2-Related Bent Bone Dysplasia |
|
Coronal craniosynostosis, Metopic depression, Steep acetabular roof, Abnormal periosteum morpholo... |
ORPHA:313855 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Large for gestational age, Agitation |
ORPHA:276556 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Small for gestational age, Large for gestational age, Agitation |
ORPHA:324575 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity |
ORPHA:171829 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Plagiocephaly, Proximal radio-ulnar synostosis, Scoliosis, Hallux valgus, Promi... |
ORPHA:794 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... |
ORPHA:289176 |
Developmental And Epileptic Encephalopathy 66 |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal c... |
OMIM:618067 |
Mucolipidosis Ii Alpha/Beta |
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Premature anterior fontanel closure, Hip dislocation, Hip dysplasia, Pathologic fracture, Lumbar ... |
OMIM:252500 |
Shprintzen-Goldberg Syndrome |
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Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Joint stiff... |
ORPHA:2462 |
Temple Syndrome |
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Polyphagia, Small for gestational age, Obesity |
ORPHA:254516 |
Bardet-Biedl Syndrome 9 |
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Polyphagia, Obesity, Polydipsia, Truncal obesity |
OMIM:615986 |
Slc35A2-Cdg |
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Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Short tibia,... |
ORPHA:356961 |
Aicardi-Goutieres Syndrome 2 |
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Lymphocytosis |
OMIM:610181 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Inability to walk, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 year... |
OMIM:614207 |
Developmental And Epileptic Encephalopathy 41 |
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Inability to walk, Myoclonic status epilepticus, Myoclonic seizure, Status epilepticus without pr... |
OMIM:617105 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Cloverleaf skull, Preaxial hand polydactyly, Short phalanx of finger, Brachydactyly, Postaxial fo... |
ORPHA:508533 |
Sillence Syndrome |
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Scoliosis, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabular roof, Lar... |
ORPHA:3168 |
Osteogenesis Imperfecta, Type Xviii |
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Generalized osteoporosis, Thin bony cortex, Umbilical hernia, Thin ribs, Wormian bones, Vertebral... |
OMIM:617952 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
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Generalized non-motor (absence) seizure |
OMIM:300801 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Polyphagia, Large for gestational age, Agitation |
ORPHA:276575 |
Mercaptolactate-Cysteine Disulfiduria |
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Bilateral tonic-clonic seizure |
OMIM:249650 |
Immunodeficiency 68 |
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Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Immunodeficiency 43 |
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Hypoproteinemia, Lung abscess, Decreased circulating beta-2-microglobulin level, Reduced natural ... |
OMIM:241600 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Polyphagia, Emotional lability, Obesity |
ORPHA:179494 |
Tay-Sachs Disease |
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Inability to walk, Gait disturbance, Focal impaired awareness seizure, Typical absence seizure, T... |
ORPHA:845 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Polyphagia, Large for gestational age, Agitation |
ORPHA:276580 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Infantile spasms, Inability to walk by childhood/adolescence, Torticollis, Bilateral tonic-clonic... |
OMIM:620224 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Craniosynostosis, Aqueductal stenosis, Turricephaly |
ORPHA:1496 |
Young-Onset Parkinson Disease |
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