Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavi... |
ORPHA:382 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Tr... |
OMIM:608636 |
Jeavons Syndrome |
|
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Agit... |
OMIM:617171 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Fo... |
OMIM:610003 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epilepti... |
OMIM:616187 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... |
OMIM:618090 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... |
OMIM:619639 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Dysplastic corpus callosum, Unsteady g... |
OMIM:620317 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Sp... |
OMIM:619301 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... |
OMIM:619302 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s... |
OMIM:162350 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... |
OMIM:615710 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Seizur... |
OMIM:611603 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Poor co... |
OMIM:619150 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, D... |
OMIM:617862 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxi... |
OMIM:616230 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Abnormal head movements, Incoordination, Involuntary movements,... |
ORPHA:157941 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior |
OMIM:617709 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizur... |
OMIM:618856 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,... |
OMIM:614322 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, G... |
OMIM:271980 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, EEG with spike-wave complexes,... |
ORPHA:36387 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se... |
OMIM:618917 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Abnormal head movements, Seizure precipitated by fe... |
ORPHA:363558 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, EEG with burst suppression, Status... |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic s... |
OMIM:617643 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... |
ORPHA:208447 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Cere... |
OMIM:604213 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... |
OMIM:239500 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... |
OMIM:613722 |
Episodic Ataxia, Type 9 |
|
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... |
OMIM:618924 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski... |
OMIM:615362 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... |
OMIM:619191 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... |
OMIM:616657 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive man... |
OMIM:618709 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I... |
OMIM:617166 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Renal steatosis, Increased hepatic echogenicity, Fasting h... |
OMIM:261680 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Abnormal repetitive manner... |
ORPHA:561854 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... |
OMIM:607682 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Enteric Anendocrinosis |
|
Portal hypertension, Malabsorption, Dehydration, Cholestatic liver disease, Type I diabetes mellitus |
ORPHA:83620 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repeti... |
OMIM:617830 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Malabsorption, Intrahepatic cholestasis,... |
OMIM:227810 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprand... |
ORPHA:2089 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Gastroesophageal reflux, Methylmalonic aciduria, Dehydration |
OMIM:251120 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Hypo... |
OMIM:619737 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... |
OMIM:616139 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... |
OMIM:613855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Oligohydramnios |
OMIM:619053 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... |
OMIM:300423 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... |
ORPHA:552 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level,... |
OMIM:210200 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Agenesis of co... |
OMIM:605899 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal i... |
OMIM:612691 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordination, Limb atax... |
OMIM:617695 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG dischar... |
ORPHA:263516 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chiari type I malformation, EEG abnorma... |
OMIM:617836 |
Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal cent... |
ORPHA:228360 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... |
OMIM:619913 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... |
ORPHA:163721 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Hyperactivity, Ataxia |
OMIM:613402 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor... |
OMIM:617493 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... |
OMIM:608105 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spasti... |
ORPHA:313772 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... |
OMIM:619470 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to wal... |
ORPHA:330050 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... |
OMIM:615751 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... |
OMIM:614063 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... |
OMIM:617665 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, EEG abnormality, Convuls... |
OMIM:618760 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Status epilepticus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure |
OMIM:620200 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... |
OMIM:226750 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... |
ORPHA:140927 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Postural tremor, Involuntary movements, Abnormal repetitive mannerisms, Jerky head m... |
ORPHA:98807 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Seizure, Self-injurious behavior, EEG abnormality, Spas... |
OMIM:617820 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, D... |
OMIM:614487 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Dehydration |
ORPHA:79159 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Seiz... |
OMIM:617435 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Edema, Dehydration, Hyperglycemia |
ORPHA:134 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... |
OMIM:617600 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Dysphagia |
OMIM:618958 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Jaundice, Lipid accu... |
ORPHA:20 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... |
OMIM:617350 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Lat... |
ORPHA:77299 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-cloni... |
ORPHA:352582 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Ge... |
OMIM:234500 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Centralopathic Epilepsy |
|
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... |
OMIM:615282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia, Dehydration |
OMIM:615453 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, De... |
OMIM:251100 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Dehydration, Renal tubular ... |
ORPHA:213 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Tetraplegia, Seizure, Hypertonia, Agenesis of corpus callosum |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Dehydration |
ORPHA:28 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure |
OMIM:612621 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr... |
OMIM:618012 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, EEG ... |
ORPHA:529665 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Jerky head movements, Punding, Attention... |
ORPHA:64280 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recurrent hand flapping |
OMIM:300624 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Self-... |
OMIM:614254 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Nocturnal seizures,... |
OMIM:619725 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Malabsorption, Ornithinuria, Argininuria, Hyperlysinuria |
OMIM:222690 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Hyperglycemia, Gliosis |
OMIM:604484 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Dehydration |
OMIM:251110 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh... |
OMIM:615859 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... |
OMIM:619355 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... |
ORPHA:289266 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, ... |
OMIM:251000 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:619028 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Pancreatitis |
ORPHA:79312 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Spasticity, Ab... |
OMIM:617393 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Hepatomegaly, Ketonuria, Lacticaciduria |
OMIM:619167 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Exaggerated startle ... |
OMIM:617281 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Seizure, Abnormalit... |
OMIM:204200 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, EEG abnormality, Brux... |
OMIM:618718 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... |
ORPHA:248111 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... |
ORPHA:93952 |
Greig Cephalopolysyndactyly Syndrome |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum, Hyperglycemia |
OMIM:175700 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Macroglossia, 3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism |
OMIM:251900 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Partial agenesis of ... |
ORPHA:79243 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... |
OMIM:609056 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... |
OMIM:618067 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Dehydration |
ORPHA:289504 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi... |
OMIM:301107 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus |
OMIM:617507 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... |
OMIM:615986 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic s... |
OMIM:619580 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Elongated sup... |
ORPHA:370022 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... |
OMIM:615960 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Impaired vibratory sensation, Lower limb spasticity, Bilateral tonic-clonic seizure, Postural tre... |
ORPHA:100988 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Aminoacylase 1 Deficiency |
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Cerebellar atrophy, Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
Combined Malonic And Methylmalonic Aciduria |
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Methylmalonic aciduria, Dehydration |
OMIM:614265 |
Propionic Acidemia |
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Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Hyperglycinuria, Dehydrati... |
OMIM:606054 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Bilateral tonic-clonic seizure, Hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Neonatal hyp... |
OMIM:240900 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked 30 |
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Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hydrocephalus, ... |
OMIM:300558 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dehydration, Recurrent hyp... |
OMIM:212140 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Hypercalciuria, Macronodular c... |
OMIM:557000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Renal insufficiency, Pancreatitis, Dehydration |
ORPHA:27 |
Cdkl5-Deficiency Disorder |
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Infantile spasms, Impaired pain sensation, Focal-onset seizure, Multifocal epileptiform discharge... |
ORPHA:505652 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity |
OMIM:615924 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Pontocerebellar Hypoplasia Type 2 |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Infantile sp... |
ORPHA:2524 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
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Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... |
ORPHA:209370 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
Severe Canavan Disease |
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Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... |
ORPHA:314911 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
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Pericardial effusion, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, High pa... |
OMIM:620089 |
Benign Paroxysmal Torticollis Of Infancy |
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Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G... |
OMIM:618170 |
Developmental And Epileptic Encephalopathy 41 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Alpers-Huttenlocher Syndrome |
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Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges, Choreoathetosis, Hype... |
OMIM:272300 |
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 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Atypical Rett Syndrome |
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Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, EEG abn... |
ORPHA:3095 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular ca... |
ORPHA:2088 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Insulin resistance, Dehydration, Renal tubular dysfunction, E... |
ORPHA:69076 |
Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Oxoglutarate Dehydrogenase Deficiency |
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Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls |
OMIM:203740 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Congenital Lobar Emphysema |
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Emphysema |
ORPHA:1928 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poo... |
ORPHA:79264 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary movements, Increased thet... |
ORPHA:98784 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Donohue Syndrome |
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Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell ... |
OMIM:246200 |
Ciliary Dyskinesia, Primary, 21 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Chylous Ascites |
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Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema |
ORPHA:1160 |
Lissencephaly Due To Tuba1A Mutation |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile... |
ORPHA:171680 |
Cln3 Disease |
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Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Agg... |
ORPHA:228346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity |
OMIM:300983 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Chorea, EEG abnormality, Seizure, Focal impaired awareness seizur... |
OMIM:613970 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Encephalopathy Due To Prosaposin Deficiency |
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Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Homozygous 11P15-P14 Deletion Syndrome |
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Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal in... |
OMIM:606528 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Neonatal death |
OMIM:618237 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... |
ORPHA:922 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis |
OMIM:614559 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
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Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... |
OMIM:619877 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Jaundice... |
ORPHA:79282 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... |
OMIM:301058 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... |
OMIM:612164 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ab... |
OMIM:619435 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Abnormal repe... |
OMIM:613443 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Upper ... |
ORPHA:457240 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Ataxia, Infantile spasms, Generalized clonic seizure, Anorexia, Tremor, Cerebellar ... |
ORPHA:3008 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... |
ORPHA:1942 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, High palate |
OMIM:614520 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chroni... |
ORPHA:1667 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Hypoplasia of the pons, Abnormal repetitive mannerisms, Inability to walk, Gene... |
ORPHA:411986 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Increased circulating cortisol level, Macronodular adrenal hype... |
OMIM:615954 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Reticular Dysgenesis |
|
Dehydration, Malabsorption |
ORPHA:33355 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Seizure, Spasticity, Agenesis of corpus callosum |
OMIM:615286 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking... |
ORPHA:280763 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hepatic ... |
OMIM:619386 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Jaundice, Dehydration, Nephroc... |
OMIM:208085 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Hypoglycemia, Gastrointestinal dysmotility, Hypoglycemic seizures, Dysphagia, Compensa... |
ORPHA:480864 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
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 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Oculomotor apraxia,... |
OMIM:612716 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a... |
OMIM:618218 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... |
OMIM:619911 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus |
OMIM:560000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Bilateral tonic-clonic seizure |
OMIM:619278 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Cerebellar... |
OMIM:620028 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention defici... |
OMIM:301029 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Seiz... |
ORPHA:464282 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic stenosis, Deh... |
ORPHA:90038 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Oral-pharyngeal dysphagia, Myoglobinuria, Hypothyroidism |
OMIM:616878 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97282 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Seizure, Lateral ventricle... |
OMIM:617751 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... |
ORPHA:199354 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Autosomal Agammaglobulinemia |
|
High palate, Hepatitis, Dehydration, Malabsorption |
ORPHA:33110 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... |
OMIM:618325 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsu... |
ORPHA:2298 |
Scorpion Envenomation |
|
Acute pancreatitis, Ketonuria, Edema, Hyperhidrosis, Glycosuria, Hyperglycemia, Acute kidney inju... |
ORPHA:466677 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia |
ORPHA:1203 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... |
OMIM:615181 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Focal EEG discharges with... |
ORPHA:3077 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... |
OMIM:601346 |
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 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... |
ORPHA:457205 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Hypoglycemia, Tongue thrusting, Spastic tetraplegia, Hypsarrhythm... |
OMIM:220120 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... |
OMIM:300912 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Biliary cirrhosis, Hepatosp... |
OMIM:219700 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:614483 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Restlessness, Interictal EEG abnormality, Bilateral tonic-clonic seizure, Inf... |
ORPHA:544503 |
Xq25 Microduplication Syndrome |
|
Seizure, Hyperactivity, Cerebellar hypoplasia |
ORPHA:521258 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para... |
ORPHA:329308 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Richards-Rundle Syndrome |
|
Ketonuria |
ORPHA:1399 |
Christianson Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Truncal ataxia, Gait ataxia, Inappropriate laughte... |
ORPHA:85278 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Thickened superior cerebellar peduncle, C... |
OMIM:610688 |
Microvillus Inclusion Disease |
|
Villous atrophy, Dehydration, Nephrocalcinosis, Abnormal small intestinal villus morphology, Abno... |
ORPHA:2290 |
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 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Primary adrenal insuffi... |
OMIM:300200 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
ORPHA:35 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Seizure, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-moto... |
OMIM:615802 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG ... |
ORPHA:1934 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... |
OMIM:615516 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Splenomegaly, Hypothyro... |
ORPHA:465508 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... |
OMIM:167800 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea... |
ORPHA:440713 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
4Q21 Microdeletion Syndrome |
|
Tremor, Seizure, Agenesis of corpus callosum, Self-injurious behavior, Cerebellar hypoplasia, Abn... |
ORPHA:238750 |
Shigellosis |
|
Hypoglycemia, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethritis, Ulcerat... |
ORPHA:810 |
Netherton Syndrome |
|
Malabsorption, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Dehydration |
OMIM:214150 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure, Tetraparesis, Ataxia |
ORPHA:3129 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Clonus, Infantile spasms, Aggressive behavior, Tonic seizure, Unsteady gait, Babin... |
OMIM:617773 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Inability to walk, Seizure, Difficul... |
ORPHA:481152 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Cry... |
ORPHA:90791 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Seizure, Hyperactivity |
OMIM:617169 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Hyperinsulinemia, Abn... |
ORPHA:363400 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... |
ORPHA:352490 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Stereotypical hand wr... |
OMIM:619229 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased urinary glycerol, Ketonuria, Jaundice, Chole... |
ORPHA:247598 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Gracile Syndrome |
|
Aminoaciduria, Cholestasis |
OMIM:603358 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Patent ductu... |
OMIM:600001 |
Necrotizing Enterocolitis |
|
Edema, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites |
ORPHA:391673 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Dehydration |
OMIM:602722 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... |
OMIM:617933 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nep... |
ORPHA:47159 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperaldosteronism, Dehydration, Renal salt wasting |
OMIM:264350 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Seizure, Hydrocephalus, Addictive alcohol use, Hyperglycemia |
ORPHA:90065 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Chromosome Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity, Cerebellar hypoplasia |
OMIM:300979 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... |
ORPHA:91131 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Cerebellar hypoplasia, Cerebellar ... |
OMIM:613155 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Anteriorly... |
OMIM:220111 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, O... |
OMIM:616672 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ce... |
OMIM:615501 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive beha... |
ORPHA:364028 |
Isovaleric Acidemia |
|
Hyperglycinuria, Dehydration |
OMIM:243500 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... |
ORPHA:228402 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive m... |
DECIPHER:45 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina bifida, Agenesis of corpus ca... |
ORPHA:99742 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand flapping |
OMIM:613192 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia,... |
OMIM:613153 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Seizure, Athetosis, S... |
OMIM:617302 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... |
OMIM:619983 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... |
ORPHA:488613 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis, Dehydration |
ORPHA:171876 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Interict... |
OMIM:617802 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Central Diabetes Insipidus |
|
Nocturia, Dehydration |
ORPHA:178029 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-ban... |
OMIM:619103 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Hemiparesis, Seizure, Self-injurious behavior, Status epilepticus, Cer... |
OMIM:618004 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Poor coordination, Poor fine mo... |
OMIM:620242 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Gait imbalance, Hypoglycemia |
OMIM:618120 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Argininosuccinic aciduria, Hepatic fibro... |
OMIM:603471 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cereb... |
OMIM:618347 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Spast... |
OMIM:619467 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Spastic tetraparesis, Cerebellar gliosis,... |
ORPHA:35069 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Renal salt wasting |
OMIM:203400 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,... |
ORPHA:488627 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... |
OMIM:300486 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Seizure, EEG abnormality, Ony... |
OMIM:182290 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Renal salt wasting |
OMIM:610600 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Diabetes mellitus, Bilateral tonic-clonic seizure |
OMIM:540000 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Aplasia/Hypoplasia of the ... |
ORPHA:572013 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... |
OMIM:618825 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory acti... |
ORPHA:2388 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Hypoplasia of th... |
OMIM:618143 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Polyuria, Polyhydramnios, Renal salt wasting, Increased ur... |
OMIM:601678 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... |
ORPHA:268940 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... |
OMIM:271900 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:261600 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Impaired ... |
ORPHA:453510 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive... |
OMIM:300260 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... |
ORPHA:530983 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... |
OMIM:246450 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Ankle clonus, Seizure, Gait disturbance, Abnormal repetitive mannerisms |
OMIM:301094 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Gait disturbance, Cere... |
OMIM:300986 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Cerebellar vermis hypoplasia, Generalized-onset seizure, Gait ataxia, Difficult... |
OMIM:617807 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Spasticity |
ORPHA:457260 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthoto... |
OMIM:103050 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Esophageal varix, ... |
ORPHA:275761 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Dend Syndrome |
|
Seizure, Hyperglycemia, Hypsarrhythmia |
ORPHA:79134 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... |
ORPHA:168558 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration, Zollinger... |
ORPHA:652 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epile... |
OMIM:615673 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... |
ORPHA:289548 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure |
OMIM:619239 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, D... |
ORPHA:556030 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Dysphagia |
OMIM:255100 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... |
OMIM:618733 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-pi... |
OMIM:600430 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... |
ORPHA:79139 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... |
OMIM:608612 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Hypothyroidism, Insulin resistance, Long penis, Fas... |
ORPHA:769 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... |
OMIM:300672 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, ... |
OMIM:620224 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Br... |
OMIM:610217 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Focal-onset seizure, Partial agenesis ... |
ORPHA:300570 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Seizure, EEG abnormality, I... |
ORPHA:411511 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor ... |
OMIM:615398 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... |
OMIM:124000 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hypoplasia of ... |
OMIM:619512 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Seizure, EEG abnormality, Agitation, Gait disturba... |
ORPHA:778 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... |
OMIM:618430 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Fasciculatio... |
ORPHA:496641 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... |
OMIM:618892 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Fg Syndrome 3 |
|
Chiari type I malformation, Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Dehydration,... |
ORPHA:230 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis... |
OMIM:619895 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Repetitive compulsive behavior, Oromotor apraxia, Seizure, EEG abnormality, At... |
ORPHA:391372 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Seizure, Agenesis of corpus callosum, Attention deficit hyperactivi... |
OMIM:620073 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:42 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... |
OMIM:607485 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hydrocephalus... |
ORPHA:395 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:601853 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise... |
OMIM:201475 |
Microsporidiosis |
|
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Periton... |
ORPHA:2552 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglobinuria, Hepatic steatosis,... |
OMIM:231530 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Deh... |
ORPHA:411629 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarboxylic aciduria, Hepatic steatosi... |
OMIM:201450 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Agenesis of corpus callosum, Gait imba... |
OMIM:619312 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive beh... |
OMIM:617799 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria |
OMIM:619003 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... |
OMIM:618914 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Seizure, Agenesis of corpus callosum, Compulsive behaviors, Abnormal rep... |
OMIM:613174 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Inability... |
ORPHA:72 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Seizure, Abnormal repetitive mannerisms |
OMIM:610883 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... |
ORPHA:369929 |
Cholera |
|
Abnormality of renal excretion, Hypoglycemia, Achlorhydria, Dehydration, Acute kidney injury, Dec... |
ORPHA:173 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Ataxia, Aggressive behavior, Unsteady gait, Seizure, Lateral ventricle dilatation, ... |
ORPHA:457279 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Insulin resistance, Hypercalciuria, ... |
ORPHA:508 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... |
ORPHA:2470 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxi... |
OMIM:617193 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic sei... |
OMIM:620070 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Patent ductus arterio... |
ORPHA:96191 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms, Agenesis of corpus callosum |
ORPHA:261144 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Myelopathy, Inability to walk... |
ORPHA:139396 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Dehydration |
ORPHA:35710 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, ... |
OMIM:616026 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Hyperaldosteronism, Dehydration |
OMIM:177735 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620126 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutar... |
ORPHA:26791 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Malabsorption, Cryptorchid... |
ORPHA:534 |
Lamellar Ichthyosis |
|
Renal insufficiency, Dehydration |
ORPHA:313 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620125 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Seizure, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Abn... |
ORPHA:10 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Melas |
|
Diabetes mellitus, Bilateral tonic-clonic seizure, Abnormal central motor function, Ataxia, Focal... |
ORPHA:550 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Seizure, Self-injurious behavior, Abnormal... |
ORPHA:449291 |
Galactosemia I |
|
Hepatomegaly, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, C... |
OMIM:230400 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention d... |
OMIM:618205 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... |
OMIM:613404 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with generalized slow activity |
ORPHA:397612 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait |
ORPHA:276432 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Seizure, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Cerebellar dys... |
ORPHA:500159 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... |
OMIM:618342 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Aggressive behavior, Tonic seizure, Self-injurious behavior, Lateral ventricle dil... |
OMIM:620075 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms |
ORPHA:3306 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Paraplegia, Seizure, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Organic aciduria |
OMIM:617184 |
Coffin-Siris Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Hyperaldosteronism, Elevated stool chloride content, Dehydration |
OMIM:214700 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Angioedema, Recurrent infection of the gastrointestin... |
OMIM:256500 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta... |
OMIM:610978 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Head-banging, Chiari type I malformation, Seizure, Lateral ventricle dilatation, S... |
OMIM:619575 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Mult... |
ORPHA:369837 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... |
OMIM:612313 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, EEG abnormality, Seizure, Athetosis, Bruxism, Spasticity, Apraxia, Abno... |
OMIM:613454 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bron... |
OMIM:244400 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bilateral tonic-clonic seizure, Hydrocephalus, Tetraplegia, Seizure, Cerebellar hypoplasia, Gener... |
OMIM:257300 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Hypertonia, Self-mutilation |
ORPHA:52503 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi... |
ORPHA:89938 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Seizure, Bilateral tonic-clonic seizure, Hypoglycemia |
OMIM:620300 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Clumsiness, Seizure, Progressive gait ataxi... |
OMIM:105830 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Pancreatitis |
ORPHA:431361 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, Lower limb spasticity, Cerebel... |
ORPHA:98889 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Dys... |
ORPHA:8 |
Sandhoff Disease |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensat... |
OMIM:268800 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Alazami Syndrome |
|
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
ORPHA:319671 |
Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:168782 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A... |
ORPHA:209905 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria, Diabetes mellitus, Gastroesophageal reflux |
OMIM:249270 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Com... |
ORPHA:401777 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Neonatal death |
OMIM:245400 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Aggressive behavior, Seizure, Hypertonia, Gait disturbance, Att... |
OMIM:300352 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria |
OMIM:617950 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... |
OMIM:613070 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap... |
ORPHA:43 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic ... |
OMIM:620024 |
Pelger-Huet Anomaly |
|
Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure |
OMIM:169400 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Hype... |
OMIM:241200 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Chiari type I malformation, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Gastroesophageal reflux, Macroves... |
OMIM:615595 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Seizure, Self-injurious behavior, Compulsive beh... |
OMIM:617061 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Seizure, Chiari malformation, Attention deficit hyperactivity disorder, A... |
OMIM:619293 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturba... |
ORPHA:247262 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Hypoglycemia, Orchitis, Jaundice,... |
ORPHA:99826 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Gen... |
OMIM:614756 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Facial ede... |
ORPHA:449432 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Celiac disease, Gastrointestinal dysmotili... |
ORPHA:293987 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Dehydration, Hyperhidrosis, Dysphagia, Myoglobinuria, Acute ki... |
ORPHA:94093 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Incoordination, Aggressive behavior, Hypoplasia of the pons, S... |
ORPHA:468678 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Hor... |
ORPHA:444077 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... |
OMIM:614222 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Dermotrichic Syndrome |
|
Aminoaciduria, Aganglionic megacolon, Hypohidrosis |
ORPHA:99688 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Diffuse cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Hypoketotic hypog... |
OMIM:255120 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Chiari type I malformation, Seizure, Choreoathetosis, Attention deficit hyperacti... |
ORPHA:261197 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... |
OMIM:259900 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Wilson Disease |
|
Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Atypical ... |
OMIM:277900 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myelopathy, Focal motor seizure, Seizur... |
ORPHA:79241 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... |
OMIM:617798 |
Lipoyltransferase 1 Deficiency |
|
Alaninuria, Hyperglutaminuria, Lacticaciduria |
OMIM:616299 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Dicarboxylic aciduria, Hypoglycemia, Cerebral edema |
OMIM:611126 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Seizure, Self-injurious behavior, EEG abnormality, Gait disturbance, Att... |
ORPHA:819 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms, Self-mutilatio... |
OMIM:123450 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia |
ORPHA:423479 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Long penis, Prim... |
ORPHA:90794 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... |
OMIM:278800 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... |
ORPHA:223 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms |
OMIM:617796 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... |
OMIM:251880 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Seizure, Progressive spastic quadriplegia, Spastic p... |
OMIM:207800 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal repetitive ... |
ORPHA:468631 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Seizure, Cerebellar hypoplasi... |
OMIM:613150 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
OMIM:615656 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Seizure, Lateral ventricle dilatation, Self-injurious behavior, Hypertonia, In... |
OMIM:615485 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... |
ORPHA:244 |
Atypical Werner Syndrome |
|
Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,... |
ORPHA:79474 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... |
ORPHA:255210 |
22Q11.2 Duplication Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1727 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... |
ORPHA:2203 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:476126 |
Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ataxia, EEG abnormality |
ORPHA:2479 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal... |
OMIM:618027 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria, Hypertonic dehydration |
OMIM:304800 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, I... |
OMIM:619475 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria, Dysphagia |
OMIM:614707 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Hyperin... |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Seizure, Hypertonia, Cerebellar hypoplasia, Abnormal repetiti... |
OMIM:212066 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure |
OMIM:600092 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Seizure, Hyperactivity, Enlarged cerebellum, Ataxia |
OMIM:620047 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... |
OMIM:252160 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spast... |
OMIM:618426 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Seizure, Neonatal hypoglycemia, Ac... |
ORPHA:66634 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... |
ORPHA:466943 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Atelectasis, Unilateral cryptorchidism |
OMIM:300219 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... |
OMIM:301044 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:71272 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Cryptorchidism, Jaundice, Cleft p... |
OMIM:214110 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Microvesicular hepatic steatosis, J... |
OMIM:617156 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior... |
OMIM:616364 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... |
OMIM:620066 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Hypoplastic nipples |
OMIM:273400 |
Colchicine Poisoning |
|
Renal insufficiency, Oliguria, Dehydration |
ORPHA:31824 |
Sialidosis Type 1 |
|
Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy... |
ORPHA:812 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Bro... |
OMIM:617330 |
Kleefstra Syndrome |
|
Aggressive behavior, Seizure, Agenesis of corpus callosum, Self-injurious behavior, Abnormal repe... |
ORPHA:261494 |
W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Decreased response to growth hormone stimulation t... |
ORPHA:470 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Seizure, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Br... |
OMIM:620330 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr... |
OMIM:606812 |
Crome Syndrome |
|
Seizure, Cerebellar dysplasia |
OMIM:218900 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria, Dysphagia |
OMIM:618247 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... |
OMIM:616579 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat... |
OMIM:605711 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Unsteady gait, ... |
OMIM:606232 |
Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of co... |
OMIM:615465 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Spasticity |
OMIM:301040 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Hypersexuality, ... |
ORPHA:217253 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
ORPHA:3044 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Hypoglycemia, Babinski sign, Tongue f... |
OMIM:252010 |
Citrullinemia, Classic |
|
Hepatomegaly, Oroticaciduria, Cerebral edema, Cirrhosis |
OMIM:215700 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Impulsivity, Unilateral vocal cord paralysis, Seizure, Attention deficit hype... |
OMIM:301030 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Aciduria, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, 3-Met... |
OMIM:203700 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Seizure, Lateral ventricle dilatation, Compulsive behaviors, Attention deficit hype... |
ORPHA:177907 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated... |
ORPHA:653 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Cerebral edema |
OMIM:207900 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Bilateral tonic-clonic seizure, Gait ataxia, Cerebellar hypoplasia, ... |
ORPHA:457359 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Seizure, EEG abnormality, Attention deficit hyperactivity disorder, Abno... |
OMIM:619005 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Type I diabetes mellitus, Bilateral tonic-clonic seizure |
ORPHA:436159 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic... |
OMIM:222700 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Typical absence se... |
ORPHA:268261 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Seizure, Agenesis of corpus callosum |
ORPHA:457284 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Unsteady gait, Polyphagia, Dysm... |
ORPHA:96121 |
Kleefstra Syndrome 1 |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
2Q37 Microdeletion Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1001 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure, Spina bifida |
OMIM:234100 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... |
OMIM:615067 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
Leigh Syndrome |
|
Hypoglycemia, Gastrointestinal dysmotility, Lacticaciduria, Methylmalonic aciduria, Generalized a... |
ORPHA:506 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Seizure, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure |
OMIM:261515 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, High palate |
OMIM:620191 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Inability to walk, Increased theta f... |
ORPHA:459070 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... |
OMIM:234200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Multifocal seizures, Hypoglycemia, Aggressive behavior, EEG with ... |
OMIM:301066 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia |
ORPHA:319213 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Protruding tongue, High, narrow palat... |
OMIM:214100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Ce... |
OMIM:236670 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria, Hyperhidrosis |
OMIM:612073 |
Pitt-Hopkins Syndrome |
|
Incoordination, Gait ataxia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... |
OMIM:614946 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia |
ORPHA:79124 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism, Agenesis of corpus callos... |
ORPHA:48652 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... |
OMIM:614947 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Ataxia |
OMIM:610505 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggressive behavior... |
ORPHA:580 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Elevated hepat... |
OMIM:619991 |
Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... |
ORPHA:488618 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Lacticaciduria |
OMIM:618811 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... |
OMIM:615873 |
Gaucher Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Oculomotor... |
ORPHA:355 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Myoclonic seizure, Gait ataxia, Seizure, Violen... |
OMIM:280000 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Cirrhosis, Hepatic st... |
OMIM:615486 |
Tuberous Sclerosis Complex |
|
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... |
ORPHA:805 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Organic aciduria |
OMIM:253260 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... |
OMIM:617913 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Inability to walk, Opisthotonus, Seizure, Hypertonia, Abnormal repetit... |
ORPHA:508533 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
X Small Rings |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... |
ORPHA:538 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Maternal diabetes, Hypert... |
OMIM:300855 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Peri... |
OMIM:613177 |
Farber Disease |
|
Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT |
ORPHA:333 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Cerebellar hypoplasi... |
OMIM:253280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Aminoaciduria, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... |
ORPHA:464311 |
1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Polyphagia, Seizure, Self-injurious behavior, Agenesis of corpus callosum... |
ORPHA:1606 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria |
OMIM:253270 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:464306 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Aminoaciduria, Organic aciduria, Galactos... |
ORPHA:85276 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Self-in... |
ORPHA:353281 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Splenomegaly, Aminoaciduria |
OMIM:616084 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Self-in... |
OMIM:612474 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Broad-based gait, Exaggerated startle response, Involuntary movements, Inability... |
ORPHA:438213 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria |
ORPHA:79242 |
Doors Syndrome |
|
Small cerebellar cortex, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awarenes... |
ORPHA:79500 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Facial palsy, Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... |
ORPHA:508498 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Oroticaciduria, Hepatitis |
ORPHA:415 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Hypoplastic nipples, Pulmonary hypoplasia |
OMIM:269860 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor c... |
ORPHA:821 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261537 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Poor coordination, Spastic diplegia, Seizure, Abnormal repetitive mannerisms |
OMIM:309590 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Seizure, Agenesis of corpus callosum, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:194190 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis |
OMIM:618278 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Oroticaciduria, Dysphagia |
OMIM:616457 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Impaired p... |
ORPHA:2152 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sens... |
ORPHA:261552 |
Arboleda-Tham Syndrome |
|
Seizure, Lower limb hypertonia, Gait imbalance, Dysphagia, Abnormal repetitive mannerisms |
OMIM:616268 |
Coffin-Siris Syndrome 12 |
|
Enlarged cerebellum, Noncommunicating hydrocephalus, Seizure, Chiari malformation, Abnormal repet... |
OMIM:619325 |
Kabuki Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Seizure, Lateral ventricle dilata... |
OMIM:147920 |
Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, G... |
OMIM:259050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria, Dysphagia |
OMIM:620358 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria, Cerebral edema |
OMIM:311250 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis |
ORPHA:365 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Zygomycosis |
|
Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax |
ORPHA:73263 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Atelectasis, Cryptorchidism, Abnormal lung lobation, Hypoplasia of the thymus... |
ORPHA:567 |
Alkaptonuria |
|
Joint swelling, Aminoaciduria, Prostatitis, Nephrolithiasis |
ORPHA:56 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... |
OMIM:619522 |
Digeorge Syndrome |
|
Parathyroid agenesis, Atelectasis, Recurrent pneumonia, Parathyroid hypoplasia, Hydrocele testis,... |
OMIM:188400 |
Xeroderma Pigmentosum |
|
Cryptorchidism, Aminoaciduria, Decreased testicular size |
ORPHA:910 |
Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |
Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Aminoaciduria, Lymphedema |
OMIM:609242 |