Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset s... |
ORPHA:330050 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... |
OMIM:245570 |
Tyrosinemia Type 2 |
|
Ataxia, Abnormality of amino acid metabolism |
ORPHA:28378 |
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 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Ataxia, Myoclonus, I... |
OMIM:619065 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia |
ORPHA:139406 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Slender build |
OMIM:617709 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Short stature, Bilateral tonic-clonic seizure |
OMIM:619639 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... |
OMIM:616230 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
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 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... |
OMIM:608636 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... |
OMIM:617904 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating vitamin E concentration, Bradykinesia, Dysdiadochokinesis, Gait disturbance... |
ORPHA:309854 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking |
OMIM:613608 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple... |
ORPHA:306 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized amyotroph... |
OMIM:616540 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical ... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... |
OMIM:617106 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus |
OMIM:615362 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetria, Gait ataxia,... |
OMIM:618090 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... |
OMIM:301020 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Seizure |
OMIM:620317 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus |
OMIM:162350 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Limb ataxia, Gait ataxia, Growth delay |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... |
OMIM:616409 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Dystonia |
OMIM:618425 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Status epilepticus, Intrauterine growth retardation, Failure to t... |
OMIM:617082 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc... |
OMIM:617711 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability t... |
ORPHA:561854 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal ... |
ORPHA:464282 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619157 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Highly arched eyebrow... |
OMIM:617976 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... |
OMIM:204300 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotro... |
OMIM:203740 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Seizure, Myoclonus, Decreased serum creatinine, F... |
OMIM:612736 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Flexion contracture, Myopathy, Dystonia, Intrauterine growth reta... |
OMIM:618237 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Abnormality of amino acid metabolism |
ORPHA:220295 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, G... |
ORPHA:36387 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... |
OMIM:617113 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... |
ORPHA:98818 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Postural tremor, Bilateral tonic-clonic seizure, Urinary incontinence, G... |
ORPHA:100988 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Cachexia, Ataxia, Tremor, Dysmetria, Gait a... |
OMIM:618093 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Action tremor, Impaired tandem gait, Seizure, Gait disturbance, F... |
OMIM:300423 |
X-Linked Intellectual Disability, Hedera Type |
|
Bilateral tonic-clonic seizure, Action tremor, Inability to walk, Unsteady gait, Obesity, Dysmetr... |
ORPHA:93952 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Dystonia, Generalized myoclonic se... |
OMIM:617836 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Congenital muscular torticollis, Torticollis, Bilateral tonic-clonic seizure, Seizure, Myoclonic ... |
OMIM:612621 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Athetosis, Focal impaired awareness seizure, Dys... |
ORPHA:382 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... |
OMIM:616981 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxia, Increased level o... |
OMIM:271980 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo... |
ORPHA:208447 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Bilateral tonic-clonic seizure, Low anterior hairline, Dysmetria, Gait ataxia, Spa... |
OMIM:615031 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... |
OMIM:619881 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a... |
OMIM:615859 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Hsd10 Disease |
|
Ataxia, Choreoathetosis, Abnormal urinary acylglycine profile, Gait disturbance, Abnormal social ... |
ORPHA:391417 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619301 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Infantile Cerebellar-Retinal Degeneration |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... |
OMIM:614559 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure |
OMIM:611603 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Cryptorchidis... |
OMIM:618917 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... |
OMIM:607745 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Cystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:214 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadocho... |
OMIM:614487 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia |
OMIM:619302 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Increased urinary... |
OMIM:272300 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Flexion contracture, Focal to... |
OMIM:617105 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, Gait imbalance, Intrauterine ... |
ORPHA:488635 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Spl... |
OMIM:610539 |
Sarcosinemia |
|
Hypersarcosinuria, Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:3129 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Low anterior hairline, Gen... |
OMIM:619616 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Bilateral tonic-clonic seizure |
OMIM:611556 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Failure ... |
OMIM:618235 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Unsteady gait,... |
ORPHA:485350 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Bilateral tonic-clonic seizure, Cryptorchidism, ... |
ORPHA:457205 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Enamel h... |
OMIM:226750 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Focal-... |
ORPHA:289266 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Thick eyebrow, Myoclonic seizure |
OMIM:619000 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Failure to th... |
OMIM:604317 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria, Bilateral tonic-clonic seizure |
OMIM:249650 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Focal impaired awarenes... |
OMIM:613970 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Abnormal mitochondria in muscle tissue, Distal... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... |
OMIM:620028 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Bilateral tonic-clonic seizure, Myopa... |
ORPHA:369840 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Ataxia, Inability to... |
ORPHA:79243 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Shufflin... |
ORPHA:228346 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li... |
OMIM:617166 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait a... |
ORPHA:254881 |
Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
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 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Gait disturbance, Mic... |
ORPHA:457240 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei... |
OMIM:616281 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... |
OMIM:618856 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Bilateral tonic-clonic seizure, Ankle flexion contracture, Rhabdomyolysis, 3-Methy... |
OMIM:618120 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize... |
OMIM:615637 |
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 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Cyanosis, Bilateral tonic-clonic seizure with focal onset, Focal-onset... |
OMIM:601764 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... |
ORPHA:140927 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:53583 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Severe Canavan Disease |
|
Inability to walk, Seizure, Bilateral tonic-clonic seizure |
ORPHA:314911 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Bilateral tonic-clonic seizure, Ankle flexion contracture, Fle... |
OMIM:617468 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus |
ORPHA:726 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Impairment of galactose metabolism |
ORPHA:79238 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Athetosis, Focal impaired awareness seizure, Dy... |
OMIM:617493 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Convulsive status epilepticus, Dystonia |
OMIM:618760 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Sparse eyebrow,... |
OMIM:617988 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
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 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
3-Methylglutaconic Aciduria, Type V |
|
Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra... |
OMIM:610198 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, I... |
OMIM:617303 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure, Focal impaired awarenes... |
ORPHA:488613 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure, Urinary incontinence |
ORPHA:329329 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... |
OMIM:618170 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Aminoaciduria, Focal clonic ... |
OMIM:220120 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Growth delay, Seizure, Bilateral tonic-clonic seizure |
ORPHA:209370 |
Brain Small Vessel Disease 2 |
|
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Abnormal dental enamel morp... |
ORPHA:251004 |
Classic Homocystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Status epilepticus, Gen... |
OMIM:612164 |
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 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Skeletal muscle atrophy, Bilateral tonic-clonic seizu... |
OMIM:268800 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, F... |
ORPHA:91131 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Fetal pyelectasis, Focal impaired awareness ... |
OMIM:301058 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Inability t... |
ORPHA:168491 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, Abnormality of h... |
ORPHA:79351 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to... |
OMIM:614222 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure |
OMIM:615716 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
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 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic seizure,... |
OMIM:619580 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Bilateral tonic-clonic seizure |
OMIM:540000 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Bilateral tonic-clonic seizure, Facial hypotonia, Cryptorchidism, Seizure, Status ... |
ORPHA:364028 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Renal insuf... |
OMIM:276700 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Thick hair, Facial hypotonia, Synophrys, Long eyelashes, Horizont... |
OMIM:618381 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus, Nep... |
OMIM:614652 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi... |
OMIM:620292 |
Developmental And Epileptic Encephalopathy 61 |
|
Loss of ambulation, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ... |
OMIM:619854 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormality of the kidney, Lipodystrophy, A... |
ORPHA:168569 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multifocal seizures, Bilateral tonic-clonic seizure, Multiple join... |
OMIM:618143 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tonic seizure, Focal hemiclonic sei... |
OMIM:616973 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Inability to walk... |
ORPHA:481152 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... |
ORPHA:98795 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dystonia, Nocturnal seizures, ... |
OMIM:619725 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia, Umbilical hernia, Mild short stat... |
OMIM:169400 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Homocystinuria, Ataxia, Focal-onset seizure, Generalized non-moto... |
ORPHA:395 |
Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Urinary incontinence, Fo... |
ORPHA:268947 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Proteinuria, H... |
OMIM:232200 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Multifocal seizures, Bilateral tonic-clonic seizure, Acute rhabdom... |
ORPHA:480864 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Hepatosplenomegaly, Myoclonic seizu... |
ORPHA:309155 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300558 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Nephrolithiasis |
OMIM:619827 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated urinary N-acetylaspartic acid level, Op... |
OMIM:271900 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, A... |
OMIM:617193 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Bilateral tonic-clonic seiz... |
OMIM:201475 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosi... |
OMIM:608022 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Glutaric aciduria, Myoclonic sei... |
OMIM:600721 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Alopecia of scalp, Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:199354 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Opisthotonus, Status epilepticu... |
OMIM:616672 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Torticollis, Hypoplasia of the bladder, Rhizomelia, Hepatic cysts, Hyp... |
ORPHA:79328 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Short stature, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cryptorch... |
OMIM:619435 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Tonic seizure, Postnatal ... |
OMIM:300912 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Flexion contracture, Seizure, ... |
ORPHA:544503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Bilateral tonic-clonic seizure, Hydroureter, Ataxia, Large for gestational age... |
OMIM:615398 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive, Enlarg... |
ORPHA:79128 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebrow, Splen... |
OMIM:252500 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Mesenteric cyst, Bilateral tonic-clonic seizure, Hypospadias, Highly arched eyebrow,... |
OMIM:618316 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Failure to thrive in infa... |
ORPHA:488627 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Short stature, Proteinuria, Hepatocellular carcinoma, Irregular ... |
ORPHA:79259 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Inability to walk, Gener... |
ORPHA:457351 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Myoclonic seizure, Long eyelashes, Foca... |
OMIM:619983 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Melas |
|
Short stature, Bilateral tonic-clonic seizure, Proteinuria, Hypogonadotropic hypogonadism, Ataxia... |
ORPHA:550 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia |
OMIM:602481 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair |
OMIM:616351 |
Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Knee flexion contracture, Calf m... |
OMIM:618733 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Bilateral tonic-clonic seizure, Ataxi... |
ORPHA:255210 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Abnormality of amino acid metabolism |
ORPHA:93 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus, Hiatus hernia |
OMIM:614618 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Proteinuria, Hep... |
OMIM:232220 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... |
OMIM:618325 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Bilateral tonic-clonic seizure, Ataxia, Abnormality of the upper ur... |
ORPHA:99885 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Bilateral tonic-clonic seizure, Urinary incontinence... |
ORPHA:496641 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Inability to walk ... |
OMIM:620224 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Sparse eyelashes, Bilateral tonic-clonic seizure, Short stature, Urinary incontinence, Sparse eye... |
OMIM:620070 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Short stature, Bilateral tonic-clonic seizure, Hypospadias, Nephrob... |
OMIM:257300 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:618354 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... |
OMIM:615476 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se... |
OMIM:617798 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Pos... |
ORPHA:508 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Increased urinary taurine, Generalized... |
OMIM:615501 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Short stature, Bilateral tonic-clonic seizure, Highly arched eyebrow, Lo... |
OMIM:615802 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Inability to walk, Flexion contractu... |
ORPHA:505248 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthi... |
OMIM:252160 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Prolonged neonatal jaundice, Severe failure to thr... |
ORPHA:423479 |
Glass Syndrome |
|
Inguinal hernia, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Facial hypotoni... |
OMIM:612313 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Bilateral tonic-clonic seizure, Growth delay, Hypogonadism, Nail dystrophy, Testic... |
OMIM:618165 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Synophrys, ... |
OMIM:619777 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Nephrolithiasis, Seizure, Athetosis, Focal impaired awareness sei... |
ORPHA:369929 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Albinism, Splenomegaly, Dystonia, Focal myoclonic s... |
OMIM:617050 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Congenital diaphragmatic hernia, Uni... |
ORPHA:2260 |
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency |
|
Seizure |
OMIM:614923 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive gait ataxi... |
ORPHA:329308 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Hirsutism |
ORPHA:90301 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Pelvic girdle muscle atrophy, Bilateral tonic-clonic seizure, Sparse pubic hai... |
ORPHA:3044 |
Ogden Syndrome |
|
Generalized-onset seizure, Cardiomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Ataxia, Inability to wa... |
OMIM:617799 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... |
OMIM:620024 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Supernumerary nipple, Highly arched eyebrow, Growth delay... |
ORPHA:247262 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Myoclonic seizure, Gait ataxia, Sparse hair, Hepatomegaly, Elevated ci... |
OMIM:280000 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)... |
OMIM:614207 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure, Hypospadias |
ORPHA:79350 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re... |
OMIM:200995 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Bilateral tonic-clonic seizur... |
OMIM:261515 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia |
ORPHA:530983 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... |
ORPHA:116 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rhabdomyolysis, Seizure, Dystonia, ... |
OMIM:610505 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic sei... |
ORPHA:98784 |
1Q44 Microdeletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Synophrys, Horseshoe kidney, Growth delay, Vesicou... |
ORPHA:238769 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... |
OMIM:617281 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Bilateral tonic-clonic seizure, Supernumerary nipple |
OMIM:616083 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Bilater... |
OMIM:252010 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,... |
OMIM:130650 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Bilateral tonic-clonic seizure, Cryptorchidism, Obesity, Hypos... |
OMIM:615926 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Bilateral tonic-clonic seizure, Nephrolithiasis, Myoclonic seizure, Athetosis, Left ventricular h... |
OMIM:615474 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Seizure, Diamino... |
OMIM:207800 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Failure to thrive in... |
ORPHA:79124 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) ... |
ORPHA:435638 |
Biotinidase Deficiency |
|
Alopecia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure,... |
ORPHA:79241 |
Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:570422 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, 3-Methylglutaconic ... |
OMIM:619835 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Hypospadias, Renal agenesis, Postnatal growth retardation, Crypto... |
OMIM:301040 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria, Bilateral tonic-clonic seizure, Limb hypertonia |
ORPHA:99742 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Short stature, Facial palsy, Tonic seizure, Cryptorchidism, T... |
OMIM:615873 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... |
ORPHA:464329 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... |
ORPHA:64280 |
Slc35A2-Cdg |
|
Abnormal glycosylation, Inability to walk, Decreased galactosylation of N-linked protein glycosyl... |
ORPHA:356961 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Bilateral tonic-clonic seizure |
ORPHA:453510 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Macroglossia, Seizure, Myopathy, Ascites, Enlarged kidney |
OMIM:261740 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Facial hypotonia, Ataxia, Tremor, Focal motor seizure, Choreoathe... |
ORPHA:2131 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Micropenis, Short stature, Hypospadias, Ataxia, Cryptorchidism, Typical absence seizure, Seizure,... |
ORPHA:268261 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Facial palsy, Tremor, Elbow flexion cont... |
ORPHA:79139 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia |
ORPHA:309256 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Bilateral tonic-clonic seizure |
OMIM:618832 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater... |
OMIM:614231 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Bilateral tonic-clonic seizure, Recurrent myoglobinuria, Elevated circulating aspartate aminotran... |
OMIM:620300 |
Weaver Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Diastasis recti, Cryptorchidism, Generalized non... |
OMIM:277590 |
Kinsship Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Synophrys, Generalized non-mo... |
OMIM:619297 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Hypospadias, Ataxia, Focal-onset seizure, Crypto... |
ORPHA:459070 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Growth delay, Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly |
ORPHA:436159 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Obesi... |
ORPHA:163681 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Hor... |
OMIM:306955 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia |
ORPHA:1020 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Bilateral tonic-clonic seizure |
OMIM:619278 |
X Small Rings |
|
Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Fetal pyelectasis, Primary ameno... |
ORPHA:96201 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Ataxia, Splenomegaly, Jaundice, Inability to walk, Growth delay, Sei... |
OMIM:608885 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Tremor, ... |
OMIM:614947 |
Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation |
OMIM:616828 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Proportionate short stature,... |
OMIM:234100 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Status epilep... |
OMIM:610042 |
W Syndrome |
|
Bilateral tonic-clonic seizure, Abnormality of the scalp hair, Camptodactyly |
ORPHA:2804 |
Choreoacanthocytosis |
|
Hepatomegaly, Resting tremor, Muscle fiber atrophy, Bilateral tonic-clonic seizure, Elevated circ... |
ORPHA:2388 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormal metabolism |
ORPHA:77296 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Renal cyst, Hypercalciur... |
ORPHA:369837 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Short stature, Bilateral tonic-clonic seizure |
OMIM:300578 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Dilatation of renal calices, Synophrys, T... |
ORPHA:466950 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bilateral tonic-clonic seizure, Bladder diverticulum, Intrauterine growth retardation, Atonic sei... |
ORPHA:2976 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Proteinuria, Glomerulonephritis, Tremor, Focal-onset seizure, Rha... |
ORPHA:90068 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypercapnia, Seizure, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Bilateral tonic-clonic seizure, Ataxia, Bilateral cryptorchidism, Scissor g... |
OMIM:278800 |
Gaucher Disease |
|
Hepatomegaly, Short stature, Bilateral tonic-clonic seizure, Proteinuria, Ataxia, Tremor, Splenom... |
ORPHA:355 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Resting tremor, Renal insufficiency, Bilateral tonic-clonic seizur... |
ORPHA:319213 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Generalized non-motor ... |
OMIM:301091 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Synophrys, Fetal pyelectasis, Low ... |
OMIM:619512 |
Oliver Syndrome |
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Bilateral tonic-clonic seizure, Camptodactyly of finger, Supernumerary nipple, Elbow flexion cont... |
ORPHA:2920 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Macr... |
ORPHA:500095 |
Nivelon-Nivelon-Mabille Syndrome |
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Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure |
OMIM:600092 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Failure to thrive |
OMIM:618426 |
Oculopharyngodistal Myopathy 1 |
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Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Tremor, Weight loss, Distal amyotrophy, D... |
OMIM:164310 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Cardiomegaly, Inability to walk, Trunc... |
OMIM:620066 |
Meacham Syndrome |
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Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... |
OMIM:608978 |
Developmental And Epileptic Encephalopathy 50 |
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Abnormal glycosylation, Broad-based gait |
OMIM:616457 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Bilateral tonic-clonic seizure, Dilatation of renal calices, Synophrys, Generalized non-motor (ab... |
ORPHA:466943 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Ataxia, Hiatus hernia, Generaliz... |
OMIM:614756 |
Stt3B-Cdg |
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Abnormal glycosylation |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
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Abnormal glycosylation |
OMIM:615597 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorch... |
OMIM:312870 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Con... |
OMIM:301044 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Facial hypotonia, Bilateral tonic-clonic seizure, Large for gestational age, Sparse eyebrow, Gait... |
ORPHA:457359 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnorm... |
ORPHA:314647 |
Metachromatic Leukodystrophy, Adult Form |
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Progressive gait ataxia, Abnormal social behavior, Chorea, Difficulty walking |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
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Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... |
ORPHA:513456 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcif... |
ORPHA:73224 |
Stt3A-Cdg |
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Abnormal glycosylation |
ORPHA:370921 |
Congenital Disorder Of Glycosylation, Type Iiq |
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Abnormal glycosylation |
OMIM:617395 |
Chromosome 22Q13 Duplication Syndrome |
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Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Epileptic spasm, Exaggerated startle response, Short stature, Uterine prolapse, Broad-based gait,... |
ORPHA:438213 |
Congenital Fiber-Type Disproportion Myopathy |
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Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... |
ORPHA:2020 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Multiple joint contractures, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spas... |
ORPHA:447997 |
Sotos Syndrome |
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Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Hypospadias, Abnormalit... |
ORPHA:821 |
Fg Syndrome Type 1 |
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Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital diaphragmatic he... |
OMIM:618280 |
Malignant Hyperthermia Of Anesthesia |
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Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnorm... |
ORPHA:423 |
Congenital Myopathy 13 |
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Skeletal muscle atrophy, Short stature, Hypercapnia, Fatty replacement of skeletal muscle, Crypto... |
OMIM:255995 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Short stature, Hypogonadotropic hypogonadism, Frontal balding, Renal salt wasting, Abnormality of... |
ORPHA:90794 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bilateral tonic-clonic seizure, Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Genera... |
OMIM:612474 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclo... |
OMIM:620330 |
Fanconi-Bickel Syndrome |
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Impairment of galactose metabolism, Generalized aminoaciduria |
OMIM:227810 |
Exercise-Induced Malignant Hyperthermia |
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Ataxia, Rhabdomyolysis, Oliguria, Seizure, Decreased liver function, Hypocapnia, Hepatic failure,... |
ORPHA:466650 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Hartsfield Syndrome |
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Bilateral tonic-clonic seizure, Hypospadias, Cryptorchidism, Growth delay, Micropenis |
OMIM:615465 |
Kabuki Syndrome 1 |
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Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Bilateral tonic-c... |
OMIM:147920 |
48,Xxxy Syndrome |
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Abnormal social behavior |
ORPHA:96263 |
Acute Liver Failure |
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Elevated hepatic transaminase, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necr... |
ORPHA:90062 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Low anterior h... |
ORPHA:79500 |
Ventilator-Induced Diaphragmatic Dysfunction |
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Abnormality of the diaphragm, Hypercapnia |
ORPHA:505395 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormal metabolism |
ORPHA:567983 |
Niemann-Pick Disease Type C |
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Ataxia, Chorea, Progressive gait ataxia, Gait disturbance, Abnormal social behavior |
ORPHA:646 |
Orofaciodigital Syndrome Type 2 |
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Short stature, Thick hair, Bilateral tonic-clonic seizure |
ORPHA:2751 |
Bickerstaff Brainstem Encephalitis |
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Ataxia, Facial palsy, Hypercapnia, Weakness of facial musculature, Limb muscle weakness, Facial p... |
ORPHA:79138 |
Fructose Intolerance, Hereditary |
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Lethargy, Transient aminoaciduria, Fructose intolerance |
OMIM:229600 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Absence Of The Pulmonary Artery |
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Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Growth delay, Hypocapnia |
ORPHA:980 |
Holoprosencephaly 14 |
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Bilateral tonic-clonic seizure |
OMIM:619895 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Hypercapnia |
OMIM:601887 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363958 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Hypoxemia, Hypercapnia |
OMIM:209880 |
Williams Syndrome |
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Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Abnormal social behavior, Overfriendliness |
ORPHA:904 |
Mend Syndrome |
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Abnormal social behavior |
ORPHA:401973 |
Chronic Thromboembolic Pulmonary Hypertension |
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Obesity, Hypocapnia |
ORPHA:70591 |
Tuberous Sclerosis Complex |
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Abnormal social behavior |
ORPHA:805 |