banner
Genes Phenotypes Help, News, Blog

Gene: Epm2a MGI:1341085

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Synonyms:
laforin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Epm2a mutations

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

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

The table below shows human diseases associated to Epm2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Hypsarrhythmia, Seizure, Gait dist... ORPHA:501
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780

The table below shows human diseases predicted to be associated to Epm2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Tremor, Chore... OMIM:208920
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Tremor, Abnormal pyramidal sign, Progressive psychomotor deterioration, Gait ata... ORPHA:363400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Hyperlipidemia,... OMIM:604484
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cereb... OMIM:615924
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Hypsarrhythmia, Seizure, Gait dist... ORPHA:501
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Distal muscle weakness, Mi... OMIM:607317
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... ORPHA:276556
Early-Onset Lafora Body Disease
Lafora bodies ORPHA:324290
Dementia, Lewy Body
Lewy bodies OMIM:127750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmet... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Peripheral axonal neuropathy, Decreased distal sensory nerve actio... OMIM:618400
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Neurodegeneration With Brain Iron Accumulation 4
Elevated circulating creatine kinase concentration, Tremor, Abnormal pyramidal sign, Oromandibula... OMIM:614298
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cranial... ORPHA:52430
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Microcephaly, Abnormal basal ganglia morphology... ORPHA:67046
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Generalized-onset seizure, Progressive distal muscular atrophy, Elevated... OMIM:159950
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Confusion, ... OMIM:615362
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Clumsiness, Abnormal heart morphol... ORPHA:79262
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Flexion contracture, Lower limb muscle weakness, Abnormal lower motor neuron morphology, ... ORPHA:2590
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Cerebral hemorrhage... ORPHA:542310
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Atrophy... OMIM:616230
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Myoclonic seizure, Seizure, EEG abnormality, Myoclonus, Bruxism, Polymicrogyria, Cerebell... OMIM:614254
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Calf muscle hypoplasia, Increa... ORPHA:488650
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Parkinsonism,... OMIM:607136
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epilepti... OMIM:616187
D-Glyceric Aciduria
Increased circulating free fatty acid level, Microcephaly, Chorea, Nonketotic hyperglycinemia, Se... ORPHA:941
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Distal muscle weakness, Aggressive behavior, Limb tremor, Focal tonic seizure, Self-injurious beh... OMIM:300699
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia, ... OMIM:619651
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Rosenthal fibers, Spasticity, Seiz... ORPHA:363717
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ... ORPHA:309169
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Hemimegalencephaly
EEG with focal spikes, Pachygyria, Abnormal neuron morphology, EEG with polyspike wave complexes,... ORPHA:99802
Obesity Due To Sim1 Deficiency
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension... ORPHA:369873
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Ataxia, Broad-based gait, Rigi... ORPHA:248111
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Progressive neurologic deterioration, EEG with abnormally slow freq... ORPHA:70472
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cardiomegaly, Choreoathetosis, Loss of ambulation, Paroxysmal bursts of... ORPHA:391428
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Seizure, Progressive cerebellar ataxi... OMIM:616640
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Cerebral infarct, Bilateral tonic-clonic seizure with focal onset, Progres... ORPHA:254881
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Microcephaly, Elevated circulating acylcarnitine concentration, Optic atrop... ORPHA:26792
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm... OMIM:162350
Combined Saposin Deficiency
Hepatomegaly, Generalized clonic seizure, Splenomegaly, Babinski sign, Optic atrophy, Abnormal gl... OMIM:611721
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, EEG with burst suppression, Atrophy/Degeneration aff... OMIM:619971
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality,... OMIM:618285
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... OMIM:300438
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Ataxia, Hypsarrhythmia, Seizure, Myoclonus, Brain atrophy, Limb hypertonia, Poor head con... ORPHA:442835
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Progressive leukoencephalopathy, Dystonia, Ataxia, Ophthalmoplegia, Babinski sign, Dilated cardio... OMIM:252011
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Cessation of head growth, Obesity,... ORPHA:411515
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Bilateral tonic-clonic seizur... ORPHA:313772
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Tremo... OMIM:614018
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Polyphagia, Obesity, Hypoglycemic seizures, Cholestasis, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Polyphagia, Obesity, Hypoglycemic seizures, Cholestasis, Hyperinsulinem... ORPHA:71526
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized... OMIM:614487
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... OMIM:615980
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal EEG dischar... ORPHA:263516
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... ORPHA:308
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contra... OMIM:256730
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Proximal muscle weakness, Unsteady ga... OMIM:301020
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Neurofibrillary tangles,... OMIM:137440
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Fatty replacement of skeletal muscle, Gowers sign, Obesity, Proximal muscle... ORPHA:171706
Foxg1 Syndrome
Choreoathetosis, Pachygyria, Agenesis of corpus callosum, Decreased body weight, Abnormal repetit... ORPHA:561854
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Dystonia, Confusion, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, ... ORPHA:71277
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Dysplastic corpus callosum, Seizure, Primary microceph... OMIM:618010
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal muscle w... OMIM:620011
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Short attention span, Bilateral tonic-clonic seizure w... OMIM:619028
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, Hyperactivity, Seizure, Cerebellar ... OMIM:610217
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Progressive neurologic deterioration, Hyperphenylalaninemia, Tr... OMIM:261630
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Cognitive impa... ORPHA:401901
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneratio... OMIM:618811
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy OMIM:608907
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,... OMIM:500003
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Microcephaly, Cerebral atrophy, Seizure, Myoclonus, Spasticity, Failure to ... OMIM:612015
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Axonal loss, Inappropriate behavior, Seizure, EEG a... OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, Babinski sign, Leukoencephalopathy, Seizure, EEG ab... OMIM:618193
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Elevated circulating creatine kina... ORPHA:306511
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Restlessness, Epileptic spasm, Hypoglycemia, Focal-onset seizure, E... ORPHA:3006
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Generalized myoclonic seizure, Microcephaly, EEG with irregular general... ORPHA:352596
Hsd10 Disease
Short attention span, Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Sei... ORPHA:391417
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autof... OMIM:204200
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... ORPHA:282166
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Parkinsonism, Frontotemporal dementia, Frontal lobe dementia, Deme... OMIM:600274
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Seizure, Myopathy, Myoclonus, General... OMIM:545000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, EEG with focal spikes, Compulsive behaviors, Hyperactivity, Seizure, Abnormal cerebral wh... ORPHA:485350
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Seizure, Rec... ORPHA:79299
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Chorea, Opisthotonus, Myoclonus, Global brain atrophy, Cerebell... OMIM:616672
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Dementia, Abnorm... OMIM:607822
Riboflavin Transporter Deficiency
Optic disc pallor, Bulbar palsy, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggress... ORPHA:97229
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Obesity, Memory impairment, Seizure, Hypertension, Hyperuricemia, Brain atroph... ORPHA:77296
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Spastic tetraparesis, Aggressive behavior, Microcephaly,... OMIM:300148
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Diffuse cerebral atrophy, Severe temper tantrums, Tremor, Dysmetria, Hyp... OMIM:617710
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Impaired proprioception, ... OMIM:277460
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Hypoglycemia, Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis,... OMIM:618241
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Elevated circulatin... ORPHA:42
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cere... OMIM:618497
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Multifocal epileptiform discharges, ... OMIM:609056
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemip... OMIM:606777
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclo... OMIM:617065
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:232400
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... ORPHA:168491
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnor... OMIM:612016
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Parkinson Disease 21
Lewy bodies OMIM:616361
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating alpha-fe... OMIM:616267
Tay-Sachs Disease
Skeletal muscle atrophy, Hypointensity of cerebral white matter on MRI, Increased serum beta-hexo... ORPHA:845
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Cogwheel rigidity, Prog... OMIM:607346
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Clonus, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Ventricula... OMIM:616878
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Hypoglycemia, Micr... OMIM:246900
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia,... OMIM:125370
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Confusion, Abnormal cerebellum morphology, Gait ataxia, Hemipar... OMIM:123400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Inc... OMIM:610539
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Salt craving, Ataxia... ORPHA:199343
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Confusion, Neurofibrillary tangles, Seizure, Hypertonia, Agitation, Disinhi... ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Obesity, Cerebral atrophy, Thin cor... OMIM:616521
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Camptodactyly ... OMIM:604320
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Simplified gyral pattern, Knee flexion contracture, Hypertonia, EEG... ORPHA:284417
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Generalized mus... ORPHA:276608
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Clonus, Elevated circulating creatine kinase concentration, Hypoglycemic seizures, Hypertonia, Ab... ORPHA:480864
Cerebrotendinous Xanthomatosis
Abnormal globus pallidus morphology, Axonal degeneration, Abnormal pyramidal sign, Progressive ps... ORPHA:909
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Developmental And Epileptic Encephalopathy 1
Poor head control, Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset s... OMIM:308350
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Atrophy/Degenerati... OMIM:619862
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Cerebral dysmyelination, Tongue thrusting, Obesity, Seizure, EEG a... ORPHA:72
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Eleva... ORPHA:2394
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... ORPHA:247585
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Very long chain fatty acid accumulation, Hoffmann sign, Dys... ORPHA:139396
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... OMIM:620270
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Elevated circulating creatine kin... ORPHA:64753
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular hepatic steatosi... OMIM:212140
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... ORPHA:36899
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Microcephaly, Abnormal circulating glycine concentration, Abnormal circulating tyro... ORPHA:79096
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Myocloni... OMIM:616139
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Tetraplegia, Hypsarrhythmia,... OMIM:610768
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Focal T2 hypointen... ORPHA:139485
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive, Progressive micro... OMIM:610090
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, EEG abnormality, Secondary microcephaly, Myoclonus, Difficult... OMIM:617829
Developmental And Epileptic Encephalopathy 16
Dystonia, Microcephaly, Clonic seizure, Optic atrophy, Cerebral atrophy, Hemiparesis, Status epil... OMIM:615338
Neutral Lipid Storage Myopathy
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... ORPHA:98908
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Hypoglycemia, Acute rhabdomyolysis, Abnormal pyramidal sign, Dys... ORPHA:48431
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies OMIM:619133
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, Increased body weight... OMIM:182290
Mepan Syndrome
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ... ORPHA:508093
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventricular block,... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventricular block,... ORPHA:98853
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Hypsarrhythmia, Status epilept... OMIM:617507
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... ORPHA:263501
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Ophthalmoplegia, Distal amyotrophy... OMIM:183090
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc... ORPHA:369
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Hypsarrhythmia, Cere... ORPHA:204
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventricular block,... ORPHA:98863
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul... OMIM:616828
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexualit... OMIM:607485
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Elbow flexion contracture... OMIM:619303
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Psychomotor deterioration, Small for gestational age, Hypoglycemia,... ORPHA:79237
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Clumsiness, Seizure, Myoclonus, Hypomimic face, Inability to walk, Oromotor apraxia, Thin... OMIM:617854
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Small for gestational ... ORPHA:289266
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Total ophthalmoplegia, Restrictive behavior, Tongue thru... ORPHA:3095
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Impaired vibration sensation in the lower limbs, Abnormal periventricula... OMIM:604360
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... ORPHA:2589
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:208700
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Poor head control, Dystonia, Bilateral tonic-clonic seizure, Involuntary move... OMIM:617493
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Seizure, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Hypotonia-Cystinuria Syndrome
Facial palsy, Ragged-red muscle fibers, Seizure, Hypocalcemia, Muscle weakness, Failure to thrive... OMIM:606407
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat... OMIM:600795
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Elev... OMIM:619386
14Q11.2 Microduplication Syndrome
Aggressive behavior, Microcephaly, Slurred speech, Obesity, Seizure, Attention deficit hyperactiv... ORPHA:261229
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Focal T2 hyperintense basal ganglia lesion, Abnormal repetitive mannerisms, P... ORPHA:79264
Neuroferritinopathy
Caudate atrophy, Writer's cramp, Chorea, Subcortical dementia, Focal dystonia, Abnormal caudate n... ORPHA:157846
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Cog8-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Chronic axonal neuropathy, Poor head control, ... ORPHA:95428
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Hypsarrhythmia, Seizure, Abnormal cerebral white matter morphology, EEG abnor... ORPHA:565624
Myoclonus, Intractable, Neonatal
Optic disc pallor, Microcephaly, Clonic seizure, Chorea, Athetosis, Myoclonus, Hypoplasia of the ... OMIM:617235
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Congestive heart failure, A... ORPHA:528
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur... OMIM:612437
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Aggressive behavior, Microcephaly, Decreased nerve conduction velocit... OMIM:618356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Hypoglycemia, Large for gestational age, Obesity, Truncal obesity... OMIM:240900
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Progressive neurologic deterioration, Chore... ORPHA:506
Primary Progressive Freezing Gait
Restless legs, Lewy bodies, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Hyper... ORPHA:75567
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Adrenomyeloneuropathy
Peripheral axonal degeneration, Very long chain fatty acid accumulation, Cerebral dysmyelination,... ORPHA:139399
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in cent... OMIM:172700
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Neurofibrillary tangles, Fron... ORPHA:100070
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotr... OMIM:261680
Hereditary Late-Onset Parkinson Disease
Resting tremor, Lewy bodies, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Weight loss... ORPHA:411602
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Basal ganglia calcification, Ce... OMIM:616505
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... ORPHA:88628
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... ORPHA:228305
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Abnormal pyramidal sign, Hyperintensity of cerebral white matter on MRI, Axonal loss, Dec... OMIM:617672
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Dementia, Gait disturbance, Myocl... OMIM:168601
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Temple Syndrome
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia ORPHA:254516
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myositis, Anorexia... ORPHA:3452
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Macro... ORPHA:298
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Microcephaly, Seizure, Cardiomyopathy, Decreased liver function, Dysgenesis of the ... ORPHA:67048
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Gener... ORPHA:289504
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Hypoglycemia, Microcephaly, Patent ductus... OMIM:220120
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Poor head control, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, O... ORPHA:13
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, Abnorma... ORPHA:208447
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Neurofibrillary tangles, Splenome... OMIM:257220
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, Calf muscle ps... ORPHA:79083
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Ataxia, Proximal muscle weakness,... ORPHA:644
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Hyperglycinemi... OMIM:605899
Leptin Receptor Deficiency
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Abnormal hypothalamus ... OMIM:614963
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia,... ORPHA:66628
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Chor... OMIM:312170
Methanol Poisoning
Bilateral basal ganglia lesions, Confusion, Myocardial infarction, Cerebral hemorrhage, Abnormal ... ORPHA:31825
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized... OMIM:617600
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Neuronal loss in the cerebral corte... OMIM:266150
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Waddling gait, Bilate... ORPHA:369840
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kinase concen... OMIM:607426
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Tremor, Focal-onset ... OMIM:619092
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, C... OMIM:225753
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Polyphagia,... ORPHA:179494
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizu... ORPHA:306
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic steatosis, Hepat... OMIM:613327
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Hypoglycemia, Microcephaly, Inability to walk, Optic atrophy, Hyperammonemia,... OMIM:614739
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:614300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... ORPHA:264580
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Lower limb spasticity, Bilateral basal ganglia lesions, Prolonged ... ORPHA:66634
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Neurofibrillary tangles, Frontotemporal dementia, Par... ORPHA:199351
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Progressive neurologic deterioration, L... ORPHA:263455
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Dist... ORPHA:309162
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Developmental And Epileptic Encephalopathy 31B
Clonus, Reduced cerebral white matter volume, Clonic seizure, Myoclonic seizure, Opisthotonus, Ag... OMIM:620352
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agitation, Statu... OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Reduced cerebral white matter volume, Progressive neurol... OMIM:618253
Childhood-Onset Spasticity With Hyperglycinemia
Short attention span, Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic at... ORPHA:401866
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Axonal loss, Hypotriglyceridemia, Hepatomegaly, Microno... ORPHA:404454
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypoglycinemia, Hyposerinemia, Seizure, Hypertonia, Secondary micro... OMIM:610992
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Elevated circulating creatine kinase conce... ORPHA:1320
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... OMIM:613886
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ... ORPHA:1935
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic ... ORPHA:79279
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Dpm1-Cdg
Elevated circulating creatine kinase concentration, Knee flexion contracture, Hepatic fibrosis, H... ORPHA:79322
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Spinal muscular atrophy, Microcephaly, Hypoplasia of the ... OMIM:607596
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sig... ORPHA:171695
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... OMIM:606703
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Hypercalcemia, Abnormal dental enamel morphology, Progressive psychomotor det... ORPHA:251004
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva... ORPHA:79240
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dystonia, B... OMIM:264470
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor fine motor coordination, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Tremor, Gowers sign, Chorea, Hepatic steatosi... OMIM:615356
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:616840
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Cerebral atrophy, Hypsarrhythmia, Seizure, Hypertonia, Dist... OMIM:618011
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen... ORPHA:228308
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Parkinsonis... ORPHA:98756
Dystonia 28, Childhood-Onset
Torticollis, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dyston... OMIM:617284
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Elevated hepatic transaminase, Abnormal pyramidal sign, Spasticity, Opisthoto... ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Compulsi... OMIM:615157
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia ORPHA:139406
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:606688
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis OMIM:607060
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Lewy bodies, Parkinsonism, Dystonia, Tremor, Rigidity, ... OMIM:168600
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen... ORPHA:157
Classic Galactosemia
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Incoordination, Ataxia, Postural tre... ORPHA:79239
Melas
Wolff-Parkinson-White syndrome, Basal ganglia calcification, Ragged-red muscle fibers, Agenesis o... ORPHA:550
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, Scapul... ORPHA:26791
Bardet-Biedl Syndrome 22
Microcephaly, Polyphagia, Obesity, Large for gestational age OMIM:617119
Cystinosis
Portal hypertension, Abnormal pyramidal sign, Myopathy, Hypokalemia, Gait disturbance, Hypophosph... ORPHA:213
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
6Q16 Microdeletion Syndrome
Broad-based gait, Poor coordination, Obesity, Abnormal temper tantrums, Polyphagia ORPHA:171829
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:608594
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Elevated circulating creatine kina... OMIM:300559
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Infantile Krabbe Disease
Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Progressive neurologic d... ORPHA:206436
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Hyperintensity of cerebral white matter on MRI, Dysmetria, Gait ataxia, ... ORPHA:101
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Sei... ORPHA:228402
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Atax... OMIM:619229
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Hereditary Geniospasm
EEG abnormality, Abnormality of mentalis muscle, Chin myoclonus, Intention tremor ORPHA:53372
Man1B1-Cdg
Resting tremor, Broad-based gait, Periventricular heterotopia, Seizure, Truncal obesity, Cerebell... ORPHA:397941
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa... OMIM:620158
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, El... OMIM:269700
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:607682
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Interictal epileptiform activity, Self-mutilation, Abnormal neuron morphol... ORPHA:163681
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Generalized-onset seizure, Perivent... OMIM:619737
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Atrial fibrillation, Microcephaly, Tr... ORPHA:525731
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Cerebral palsy, Bilateral tonic-clonic seizure, Epistaxis, Ventricular s... ORPHA:369929
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Bilateral tonic-clonic se... OMIM:201475
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Cholestasis, Hyperbilirubin... OMIM:609734
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai... OMIM:616494
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Hyperprolinemia, Cerebral atrophy, Seizure, Hypoplasia of the corp... OMIM:615918
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Poor head control, Hypoglycemia, Progressive n... OMIM:618329
Endocardial Fibroelastosis
Hypoglycemia, Congestive heart failure, Seizure, Cognitive impairment, Endocardial fibroelastosis... ORPHA:2022
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Ataxia, Ophthalmoplegia, Myoclonic seizure, Seizure, Myoclonus, Brain a... OMIM:618225
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Progressive neurologic deterioration, Dysmetria, Seizure, Myoclonus, Fai... OMIM:618251
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Ankle flexion... OMIM:618120
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Per... ORPHA:3008
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Seizu... OMIM:615547
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh... OMIM:615859
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Chorea, Abnormal caudate nucleus morphology, Fasting hypoglycemia, Limb dystonia, Open op... ORPHA:25
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Generalized amyotrophy, Limb dystonia, Abnormal ... ORPHA:572798
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... OMIM:615160
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Microcephaly, Inability to walk, ... OMIM:616756
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:212138
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... OMIM:271980
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria... ORPHA:1934
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve... ORPHA:98755
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Choreoathetosis, Hyperton... ORPHA:17
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... OMIM:606693
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... OMIM:614702
Optic Atrophy 11
Dysmetria, Mildly elevated creatine kinase, Hyperactivity, Ataxia, EEG with focal sharp waves, Se... OMIM:617302
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... OMIM:256810
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Basal ganglia calcification, Hypertonia, Hypoalbuminemia, Hepatic fibrosi... OMIM:619487
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, EEG with generalized spikes, Myo... OMIM:613855
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Hypoplasia of the pons, Inability to walk, Generalized non-moto... ORPHA:411986
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... ORPHA:35878
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Seizure, EEG abnormality, Myoclonus,... OMIM:617391
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ... ORPHA:276198
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Pro... OMIM:613954
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Congestive heart failure, Flexion contracture, ... OMIM:616271
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Chronic axonal neuropathy, Salt craving, Ataxia, Seizure, Dysdiadochokinesis,... OMIM:612780
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia, Confusion, EEG with abnormally slow frequencies, EEG with focal epileptifor... ORPHA:163921
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Seizure, Hypoglycemia ORPHA:35701
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Recurrent hypoglycemia, Hepatomegaly, Ataxia, Spastic hemiparesis, Dilated cardiomyopat... ORPHA:20
Congenital Disorder Of Glycosylation, Type Ia
Generalized-onset seizure, Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Dysmetria, ... OMIM:212065
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Dystonia, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Cho... OMIM:617282
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Muscle weakness OMIM:162100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Ataxia, Infantile spasms, Aggressive behavior, Chorea, Dilated... OMIM:618321
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Primary microceph... OMIM:619847
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Noctu... OMIM:619725
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... ORPHA:156
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, Thick cerebral cortex, EEG with focal spike waves... ORPHA:352582
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Tetralogy of Fallot, Dysmetria, Seizure, Myoclonus, Truncal at... OMIM:250620
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Basal ganglia calcification, Babinski sign,... OMIM:278800
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, Microcephaly, Obesit... ORPHA:819
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Seizure, Hyperuricemia, Cognitive impairment ORPHA:364
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Atrial septal defect, Spasticity, Pachygyria OMIM:620094
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Impaired temperature sensation, Tremor, Impaired pain sensation, Centrall... OMIM:619574
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Poor head control, Cerebral atrophy, Hypsarrhythmia, Myoclon... OMIM:619060
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-ons... OMIM:614498
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... OMIM:619355
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Dystonia, Facial hypotonia, Microcephaly, Overweight, Babinski... ORPHA:280763
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Restless legs, Absent brainstem auditory responses, Skeletal muscle atrophy,... ORPHA:101085
Microcephaly, Amish Type
Hepatomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion cont... OMIM:607196
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Fructose And Galactose Intolerance
Seizure, Hypoglycemia OMIM:229500
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal lower motor neuron morphology, Bulbar palsy, Parkinsonism, Fasci... ORPHA:275872
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Pontocerebellar Hypoplasia Type 4
Olivopontocerebellar hypoplasia, Seizure, Hypertonia, Myoclonus, Primary microcephaly, Arthrogryp... ORPHA:166063
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Periventricular cysts, Sp... ORPHA:363722
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra... OMIM:245400
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lower limb muscle weakness, Tricuspid regurgitation, Seizure, Cardiomyopathy, Diffu... ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations, Focal T2 hyperintense b... OMIM:252010
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Microcephaly, Seizure, Hypoalbuminemia, Mental deteri... OMIM:617575
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Seizure, Progressive microcephaly OMIM:614741
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Seizure, Dementia, Abnormality of extrapyramidal mot... OMIM:604218
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Unsteady gait, Gait ataxia, Seizure, Recurrent hypoglycemia, Periventricular white matter hyperin... OMIM:618158
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-onset s... ORPHA:1949
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature sensation, ... ORPHA:98793
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ... ORPHA:280365
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Seizure, Myopathy, Hepatic steatosis ORPHA:79087
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Poor head control, Ataxia, Dilated cardiomyopathy, Optic atrophy, Seizure, Hypertro... OMIM:614299
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Inc... OMIM:617872
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Abnormality of the musculatu... ORPHA:464282
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature sensation, ... ORPHA:177904
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, S... OMIM:231670
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature sensation, ... ORPHA:177901
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Small for gestational age, Impaired temperature sensation, Bulimia, Perisylvia... ORPHA:98754
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera... OMIM:603471
Gaucher Disease, Type Iii
Hepatomegaly, Ataxia, Progressive neurologic deterioration, Splenomegaly, Dementia, Myoclonus, De... OMIM:231000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Poor fine motor coordin... ORPHA:96184
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Cimdag Syndrome
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Lipodystrophy, Dystonia, Microcephaly, Microv... OMIM:619273
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin re... ORPHA:79086
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Diffuse leukoencep... OMIM:619780
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Inability to walk, Cereb... OMIM:618877
Gerstmann-Straussler-Scheinker Syndrome
Lower limb muscle weakness, Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Dementia, A... ORPHA:356
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hypertension, Diabetic ketoacidosis, Hepatic s... OMIM:615238
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cerebral atrophy, Seizure, Car... OMIM:606054
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Impaired proprioception, ... ORPHA:71
Choreoacanthocytosis
Caudate atrophy, Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Cho... ORPHA:2388
Waisman Syndrome
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure,... OMIM:311510
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Bachmann-Bupp Syndrome
Lower limb spasticity, Cerebral calcification, Hypoglycemia, Large for gestational age, Aggressiv... OMIM:619075
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Generalized muscle weakness, Choreoathetosi... ORPHA:98810
Lipodystrophy, Familial Partial, Type 7
Clonus, Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Lower limb ... OMIM:606721
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Cebalid Syndrome
Seizure, Polymicrogyria, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, Ataxia, Neurofibrillary tangles, Splenomegaly, Jaundice, Seizure, Prolong... OMIM:607625
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Dystonia, Microcephaly, Hypoplasia of the pons, Optic a... OMIM:617669
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Familial Dyskinesia And Facial Myokymia
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... ORPHA:324588
Adenylosuccinase Deficiency
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Microcephaly, In... OMIM:103050
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Paraparesis, Choreoath... ORPHA:726
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Neck flexor weakness, Oral-pharyngeal dysphagia, ... ORPHA:273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tonic seizure, Focal hemiclonic sei... OMIM:616973
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Gen... ORPHA:436271
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Microcephaly, Elevated circulating acylcar... ORPHA:159
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Ophthalmop... ORPHA:3463
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Proximal muscle weakness, Dilated c... ORPHA:70595
Marchiafava-Bignami Disease
Abnormal pyramidal sign, Gait ataxia, Delirium, Ataxia, Facial palsy, Confusion, Ophthalmoplegia,... ORPHA:221074
Analbuminemia
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... OMIM:616000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bilateral basal ganglia lesions, Lower limb spasticity, Microcephaly, Cardiomyopathy, Hypertrophi... OMIM:615119
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Cerebellar vermis hypoplasia, Ataxia, Aggressive behavior, Microcephaly, Se... OMIM:156200
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Microcephaly, Dysphagia, Failure to th... OMIM:618958
Kleine-Levin Hibernation Syndrome
Polyphagia, Confusion OMIM:148840
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Rigidity, Optic atrophy, Cerebral atrophy, Myoclonus OMIM:619057
Brain-Lung-Thyroid Syndrome
Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, Atrial septal defect, ... ORPHA:209905
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... OMIM:615812
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br... OMIM:614946
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Maternal diabetes, Hemip... ORPHA:3157
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemi... ORPHA:2609
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Graves Disease, Susceptibility To, 1
Hyperactivity, Congestive heart failure, Weight loss, Polyphagia, Muscle weakness OMIM:275000
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Impulsivity, Impaired temperature sensation, Flexion contracture, Increased... ORPHA:398069
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Juvenile Sialidosis Type 2
Lower limb spasticity, Hepatomegaly, Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Hepatospl... ORPHA:93399
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Dystonia, Impaired glucose tolerance, Microcephaly, Simplified gyral pattern, ... OMIM:614407
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akin... OMIM:601104
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Generalized-onset seizure, Microvesicular hepatic steatosis, Agenesis of corpus callosum, Hepatic... OMIM:619418
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Gitelman Syndrome
Cerebral calcification, Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a... OMIM:618218
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... ORPHA:646
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Paralysis, Generalized muscle weakness, Ventricular ... OMIM:263800
Neurodegeneration With Brain Iron Accumulation 3
Writer's cramp, Tremor, Chorea, Subcortical dementia, Choreoathetosis, Laryngeal dystonia, Ataxia... OMIM:606159
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Cerebral Visual Impairment
Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Microcephaly, Op... ORPHA:447788
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... ORPHA:254892
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Slurred speec... OMIM:256550
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Microcephaly, Hyperammonemia, Seizure, Abnormal cerebral white matter... OMIM:246450
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... OMIM:617253
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Distal muscle w... OMIM:616263
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Focal T2 hyperintense basal ganglia lesion, Hypothalamic atrophy, Lower l... ORPHA:2822
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Seizure, Polydipsia, Failure to thrive ORPHA:178029
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Dystonia, Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the ... ORPHA:500144
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Microcephaly, Periven... OMIM:619013
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Aplasia/Hypoplasia of the cerebel... ORPHA:254346
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Slurr... ORPHA:812
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... OMIM:615996
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Cerebral calcification, Confusion, Basal ganglia calcification... ORPHA:79444
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Elevated... OMIM:618805
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Distal muscle w... ORPHA:364028
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat... OMIM:203450
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Pulmonary embolism, Hyperhomocystinemia, Delirium, Ataxia, Dilated cardiomyopa... ORPHA:79282
Luscan-Lumish Syndrome
Aggressive behavior, Slurred speech, Obesity, Seizure, Chiari malformation, Overgrowth, Polyphagia OMIM:616831
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... ORPHA:6
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Aggressive behavior, Impaired pain sensati... ORPHA:293987
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Recurrent hypoglycemia, ... OMIM:124000
Chédiak-Higashi Syndrome
Tremor, Hyponatremia, Ataxia, Parkinsonism, Pericardial effusion, Hepatosplenomegaly, Seizure, Ga... ORPHA:167
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Seizure, Neuronal loss in central nervous syst... OMIM:260565
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Ventricular septal defect, Infantile spasms, Spastic tetraparesis, Opt... OMIM:614261
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Impaired distal proprioception, Cardiomegaly, Impaired p... ORPHA:14
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Poor coordination, Axonal degeneration, Neurode... ORPHA:478029
Weaver Syndrome
Inguinal hernia, Bilateral tonic-clonic seizure, Absent septum pellucidum, Diastasis recti, Paten... OMIM:277590
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Hyperglycemia, Seizure... ORPHA:134
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Skeletal muscle atrophy, Generalized-onset seizure, Small for gestational... OMIM:612073
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Small for gestational age, Secondary microcephaly, Hypoglycemia ORPHA:231147
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cereb... OMIM:614969
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ak... OMIM:609454
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, Partial agenesis of the corpus callosum, EEG wit... ORPHA:101030
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ... ORPHA:444490
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Neurodevelopmental Disorder With Spasticity And Poor Growth
Clonus, Reduced cerebral white matter volume, Myoclonic seizure, Opisthotonus, Knee flexion contr... OMIM:618076
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Poor head control, Absence seizure with eyelid myoclonia, Ataxia, Jaundice, General... OMIM:613839
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Cerebral calcification, Involuntary movements, Confusion, Basa... ORPHA:79443
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Bulbar palsy, Poor head control, Small for gestational age, Clonus, Elevated circulating creatine... OMIM:619055
Neuhauser Syndrome
Ataxia, Microcephaly, Poor coordination, Seizure, Dysphagia, Hypercholesterolemia, Cerebral corti... OMIM:249310
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired proprioception, Flexion contracture, Dysmetria, Loss of ambulation, Inten... OMIM:615491
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Obesity, Seizure, Abdominal obesity, Type II diabetes mellitus, S... ORPHA:398079
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci... OMIM:617281
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614924
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Seizure, ... OMIM:616811
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... ORPHA:96121
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Diastasis recti, Seizure, Decreased body weight, Neonata... ORPHA:231140
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Tremor, Fatty replacement of skeletal muscle, Necrotizing m... ORPHA:329478
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... ORPHA:79159
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Periventricular cysts, Muscle weakness OMIM:616111
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Microcephaly, Insul... ORPHA:73272
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Poor gross motor co... OMIM:176270
Gangliocytoma
Distal muscle weakness, Focal-onset seizure, Abnormal cerebellum morphology, Dementia, Paresthesi... ORPHA:251937
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Microcephaly, Flexion contracture, Status epilepticus, Myoc... OMIM:618201
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ataxia, Hypoglycemia, Bicuspid aortic valve, Aggressive behavior... ORPHA:457279
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... OMIM:609015
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Valinemia
Hypervalinemia, Failure to thrive, Hyperkinetic movements, Muscle weakness OMIM:277100
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Steatorrhea, F... ORPHA:95427
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Hypoglycem... ORPHA:391408
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, GM2-gan... OMIM:272750
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Elevated circulating aspa... OMIM:614921
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Ventricular septal defect, Microcephaly, Opt... ORPHA:3078
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Seizure... OMIM:619167
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inabili... OMIM:617864
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive ... ORPHA:391372
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Parkinsonism, Ob... OMIM:300055
Maple Syrup Urine Disease
Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Seizure, Hype... OMIM:248600
Trisomy 18P
Polyphagia, Facial palsy, Attention deficit hyperactivity disorder, Microcephaly ORPHA:1715
Mehmo Syndrome
Diabetes mellitus, Microcephaly, Obesity, Seizure, EEG abnormality, Hypertonia, Agitation ORPHA:85282
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Ophthalmoparesis, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Seizure, Glycosuria, Postpra... ORPHA:2089
Prader-Willi Syndrome
Diabetes mellitus, Impaired temperature sensation, Perisylvian polymicrogyria, Seizure, Abdominal... ORPHA:739
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Inability to walk, Cerebral atrophy, Hypsarrhythmia, Hyperkinetic movements, Pe... OMIM:618374
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating cre... OMIM:608779
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impair... ORPHA:88644
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Impaired pain sensation, Ophthalmop... OMIM:618124
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal r... OMIM:619475
Fatal Familial Insomnia
Ataxia, Weight loss, Cerebral cortex with spongiform changes, Dementia, Myoclonus, Dysphagia, Neu... OMIM:600072
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Flexion contracture, Generalized amyotrophy, Hepatomegaly, Ataxia, Micro... OMIM:301072
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Bilateral tonic-clonic seizure, Elevated circulati... OMIM:620300
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Tremor, Microvesi... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Seizure, Cardiomyopathy, Myopathy, Tongue fasciculations, Myoclonus, Decreased live... OMIM:614922
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Dementia, Gait disturbance, Myoclonus, Dysphagia, Memory impairment ORPHA:324708
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Leukoencephalopathy, Opisthotonus, ... OMIM:605711
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, O... ORPHA:459033
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Uns... ORPHA:420492
Senior-Boichis Syndrome
Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Aggressive behavior... ORPHA:84081
Craniopharyngioma
Papilledema, Cerebral calcification, Myocardial infarction, Optic atrophy, Obesity, Abnormal hypo... ORPHA:54595
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, Pachygyria, Abnormal repetitive manneris... OMIM:619777
X-Linked Acrogigantism
Increased body mass index, Ataxia, Fasting hyperinsulinemia, Seizure, Abnormal oral glucose toler... ORPHA:300373
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary... ORPHA:403
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Agenesis of corpus callos... ORPHA:1606
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Opisthotonus, Acute hepatic steatosis, Seizure, Failure to th... OMIM:210200
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Seizure, Macroglossia,... ORPHA:412217
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Asparagine Synthetase Deficiency
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Trem... OMIM:615574
2P21 Microdeletion Syndrome
Seizure, Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... OMIM:619738
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... ORPHA:309155
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoat... OMIM:233910
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... ORPHA:320
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Confusion, Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Small for gestational age, Microcephaly, Gait ataxia, Seizure, Recurrent hypoglyc... OMIM:616817
Machado-Joseph Disease
Impaired vibratory sensation, Ataxia, Parkinsonism, External ophthalmoplegia, Distal amyotrophy, ... OMIM:109150
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Seizure, Failure to thriv... ORPHA:300536
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clon... OMIM:268800
Patent Ductus Venosus
Congenital portosystemic venous shunt, Hyperammonemia, Hypergalactosemia, Decreased liver functio... OMIM:601466
Megalocornea-Intellectual Disability Syndrome
Ataxia, Microcephaly, Seizure, EEG abnormality, Hypercholesterolemia, Abnormal repetitive mannerisms ORPHA:2479
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Reduced cerebral white ... OMIM:620167
Microtriplication 11Q24.1
Speech apraxia, Microcephaly, Hyperlipidemia, Obesity, Retrocerebellar cyst, Seizure, Hyperkineti... ORPHA:289522
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum... OMIM:261515
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Impaired glucose tolerance, Ventricula... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... OMIM:220110
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy, Bradycardia, Microcephaly ORPHA:2898
Sotos Syndrome
Ventricular septal defect, Neonatal hypoglycemia, Aggressive behavior, Partial agenesis of the co... OMIM:117550
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Slurred speech, Seizure, Myoclonus, Nonprogressive c... ORPHA:3327
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ... ORPHA:261476
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Poor coordination, Obesity, Cognitive impairment, Polydipsia OMIM:615994
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Ataxia, Atrial fibrillation, Facial palsy, C... ORPHA:31826
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spastici... OMIM:612949
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Abnormal hea... ORPHA:77293
Smith-Kingsmore Syndrome
Hypoglycemia, Diastasis recti, Reduced cerebral white matter volume, Megalencephaly, Large for ge... OMIM:616638
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Microcephaly, Cerebral atrophy, ... ORPHA:404448
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Abnormal globus pallidus morphology, Cerebell... OMIM:251000
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Patent ductus arter... OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:253800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Seizure, Cholestatic liver disease, Hypertrophic cardiomyopathy, Fail... ORPHA:5
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Unilateral Polymicrogyria
Poor head control, Cyanosis, Involuntary movements, Infantile spasms, Microcephaly, Epistaxis, Fo... ORPHA:268943
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seizure, Hepatic fibrosis, Hepatomegaly, ... OMIM:615273
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:208900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Atrial septal defect, Hypertriglyceridemia, Bilateral tonic-clonic seizure, H... ORPHA:369837
Serotonin Syndrome
Restlessness, Tachycardia, Clonus, Confusion, Tremor, Rigidity, Rhabdomyolysis, Seizure, Hyperten... ORPHA:43116
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... ORPHA:466677
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Photosensitive tonic-clonic seizure, Microce... OMIM:300243
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Hypoglycemia, Abnormal pyramidal sign, Proximal muscle weakness in lower limbs, Cerebella... ORPHA:453533
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Distal muscle weakness, Ataxia, Myelin outfoldi... OMIM:609136
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... OMIM:203700
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Sei... OMIM:616483
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Babinski sign, O... OMIM:619259
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hypoglycemic seizures, Hepatic necrosis, Hyper... OMIM:231530
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Lower limb spasticity, Broad-based gait, Ventricular septal defect, Aggressive beha... ORPHA:251028
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Poor head control, Weakness due to upper motor neuron... ORPHA:466722
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Sple... ORPHA:90041
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Rigidity, Seizure, EEG abnormality, Myoclonus, Polymicrogyria, Progressive mic... OMIM:300673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Elevated hepatic transaminase, Progressive external ophthalmoplegia, Impaired... OMIM:610131
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Hyperc... ORPHA:199299
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Generalized-onset seizure, Diastasis recti, Large for gestational age, Megalenceph... ORPHA:457485
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly... ORPHA:93400
Helsmoortel-Van Der Aa Syndrome
Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms, Hyperactivity, Facial... OMIM:615873
Kufor-Rakeb Syndrome
Abnormal pyramidal sign, Hypertonia, Eyelid apraxia, Parkinsonism, Confusion, Gait disturbance, M... ORPHA:306674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hyperlipidemia, Hepatocellular adeno... ORPHA:79259
Griscelli Syndrome Type 1
Cerebral calcification, Ataxia, Hyperlipidemia, Seizure, Hypertonia ORPHA:79476
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Aicardi-Goutieres Syndrome 7
Basal ganglia calcification, Hypertonia, Hepatic steatosis, Hepatomegaly, Intracerebral periventr... OMIM:615846
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
Monosomy 13Q34
Hepatic steatosis, Hypercalcemia, Epistaxis, Microcephaly, Insulin resistance, Obesity, Hematoche... ORPHA:96168
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,... OMIM:300957
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Seizure, Pac... OMIM:248360
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Seizure, Overgrowth, Polyphagia, Tall stature OMIM:300942
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus a... OMIM:620327
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Generalized-onset seizure, Abnormal pyramidal sign, Hypertonia, Bulbar palsy, Seizure, Contractur... OMIM:617527
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ataxia, Ophthalmoplegia,... ORPHA:699
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Palp... ORPHA:231580
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Myocardial infarction, Microcephaly, Tremor, Overweight, Seizure,... ORPHA:457240
Macrocephaly-Intellectual Disability-Autism Syndrome
Seizure, Multiple lipomas, Hepatic steatosis, Attention deficit hyperactivity disorder ORPHA:210548
Erdheim-Chester Disease
Ataxia, Abnormal pericardium morphology, Retroperitoneal fibrosis, Abnormal cerebellum morphology... ORPHA:35687
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Microcephaly, Rigidity, Focal-onset seizure, Cl... OMIM:620275
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovolemia, Hepatosplenomegaly... ORPHA:275761
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Myoclonic seizure, Hypocalcemia, Abnormal repetitive mannerisms, Na... OMIM:620330
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Salt craving, Orthostatic hypotension, Hyperc... ORPHA:95409
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Chorea, Aplasia/Hypoplasia of the cer... ORPHA:2162
Developmental And Epileptic Encephalopathy 101
Poor head control, Limb joint contracture, Microcephaly, Opisthotonus, Seizure, Myoclonus, Bradyc... OMIM:619814
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... OMIM:231680
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Seizure, Recurrent hypoglycemia, Failure to thrive, Tall st... OMIM:202200
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Seizure, Hyperuricemia, F... ORPHA:348
Nipah Virus Disease
Anorexia, Tremor, Seizure, Myoclonus, Hypotension ORPHA:99825
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Self-mutila... OMIM:607872
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... OMIM:615538
Kanzaki Disease
Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Distal muscle weakness, Axonal d... OMIM:609242
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness OMIM:106100
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, ... OMIM:620224
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microcephaly, Seizure, Failur... OMIM:615438
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Progressive neurologic deterioration, Oral-phary... OMIM:219800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Cerebral white matter atrophy, Bulbar palsy, Abnormal cortical gyra... ORPHA:521426
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Self-injurious behavior, Seizure, Hyperkinetic movements, Progressiv... ORPHA:397933
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Hereditary Hyperekplexia
Ataxia, Hiatus hernia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations... ORPHA:3197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion co... OMIM:300868
Chanarin-Dorfman Syndrome
Hepatomegaly, Ataxia, Myopathy, Hepatic steatosis, Muscle weakness OMIM:275630
Laurence-Moon Syndrome
Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia, Obesity ORPHA:2377
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Cerebellar atrophy, Cyanosis, Ataxia, Bilateral tonic-clonic seizure, Microcephaly,... OMIM:618426
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Mitral valve prolapse, Seizure, Disp... OMIM:236200
Stiff-Person Syndrome
Exaggerated startle response, Tachycardia, Diabetes mellitus, Rigidity, Opisthotonus, Hypertensio... OMIM:184850
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Cerebral atrophy, Hyperhomocystinemia, Seizure, Hypert... OMIM:236270
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Agenesis of cerebellar vermis, Hypoglycemia, Optic nerve hyp... OMIM:609069
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Su... ORPHA:137675
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Seizure, Hepatic steatosis, Cerebral e... OMIM:201450
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Wagro Syndrome
Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Arima Syndrome
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... OMIM:243910
Tenorio Syndrome
Hypoinsulinemia, Cerebral palsy, Hypoglycemia, Raynaud phenomenon, Clumsiness, Seizure, Macroglos... OMIM:616260
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Increased body weight, Hand tremor, Seizure, Gait disturbance, Attention deficit hyp... ORPHA:589905
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... ORPHA:94086
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Hypoglycemia, Hyperkalemia, Seizure OMIM:240200
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Pain insensitivity, Ataxia, C... ORPHA:90062
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Spastic tetraplegia, Cerebral atrophy, Seizure, Joint contracture, Myoclonus, Hyper... OMIM:614462
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Seizure, Failure ... OMIM:614736
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c, Hypoglycemia, Cerebellar hypoplasia, Dystonia, Type I diabetes m... OMIM:616113
Tangier Disease
Peripheral axonal neuropathy, Hypertriglyceridemia, Distal muscle weakness, Impaired temperature ... ORPHA:31150
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Microcephaly, Cholestasis, Hepatosplenomegaly, ... ORPHA:541423
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Secondary microceph... OMIM:619609
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia, Slurred speech, Seizure, Myoclonus OMIM:274240
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Multifocal seizures, Hypoglycemia, Facial hypotonia, Gait ataxia... OMIM:616355
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Joubert Syndrome 32
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Hypertroph... OMIM:617757
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... OMIM:256040
Poliomyelitis
Skeletal muscle atrophy, Anorexia, Upper limb muscle weakness, Hypovolemic shock, Fatigable weakn... ORPHA:2912
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,... ORPHA:361
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Dystonia, Cardiomegaly, Microvesicular hepatic steatosis, ... OMIM:618278
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Progressive proximal muscle weakness, Cerebral atrophy, Right ventricular dilatation, Sei... ORPHA:369847
Myofibrillar Myopathy 11
Proximal muscle weakness, Overweight, Gowers sign, Centrally nucleated skeletal muscle fibers, Z-... OMIM:619178
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri... OMIM:615453
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... ORPHA:79303
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... ORPHA:320406
Tick-Borne Encephalitis
Skeletal muscle atrophy, Generalized-onset seizure, Anorexia, Elevated circulating C-reactive pro... ORPHA:297
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal globus pallidus morphology, Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal... ORPHA:309854
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... ORPHA:567548
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Clumsiness, Macroglossia, Umbilical hernia, Bradycardia, Attention deficit hyp... ORPHA:90674
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Hypoglycemia, Generalized amyotrophy, Microcephaly OMIM:610006
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Pachygyria, Patent ductus arteriosus, Muscular ventr... ORPHA:79324
Familial Multiple Lipomatosis
Cerebral calcification, Lipodystrophy, Increased adipose tissue, Hyperlipidemia, Insulin resistan... ORPHA:199276
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Impaired glucose tolerance, Ventricular septal defect... OMIM:615630
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Hyperactivity, Ataxia, Cerebellar vermis hypoplasia, Agenesi... OMIM:213300
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Cerebral calcification, Microcephaly, Splenomegaly, Congestive heart failure, Flexi... OMIM:617303
Wiedemann-Rautenstrauch Syndrome
Tremor, Congenital malformation of the left heart, Chiari type I malformation, Hypertonia, Hepati... ORPHA:3455
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Endocar... OMIM:619313
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... ORPHA:890
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Confusion, Abnormal left ventricular function, Hyp... ORPHA:36913
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Microcephaly OMIM:618348
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia ORPHA:231137
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Pericardial ef... OMIM:620089
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:536532
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Cessation of head growth, O... ORPHA:411511
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type... ORPHA:3191
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Seizure, Hyperton... OMIM:617248
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Generalized muscle... OMIM:241200
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Proximal muscle weakness, Increased body weight, Hypert... OMIM:615830
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Schindler Disease, Type I
Optic atrophy, Seizure, Myoclonus, Generalized amyotrophy, Spasticity OMIM:609241
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Hepatomegaly, Short attention span, Multifocal seizures, Hypoglyc... OMIM:301066
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Failure to t... OMIM:239200
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Salt craving, Orthostatic hypotension, Hyperc... ORPHA:85138
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Clumsiness, Seizure, Progressive g... OMIM:105830
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Acth Deficiency, Isolated
Decreased circulating cortisol level, Jaundice, Cholestasis, Seizure, Fasting hypoglycemia OMIM:201400
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen... OMIM:617591
H Syndrome
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Abnormal cardiovascular system physiology... ORPHA:168569
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hyperlipidemia,... OMIM:232200
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Bilat... OMIM:614947
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Cerebral palsy, Hypoglycemia, Hyperammonemia, Opis... OMIM:210210
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv... ORPHA:363618
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... ORPHA:314655
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Cerebral cortical atrophy ORPHA:2158
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Generalized-onset seizure, Ataxia, Microcephaly, Inability to w... OMIM:618443
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja... ORPHA:333
Donohue Syndrome
Skeletal muscle atrophy, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pa... OMIM:246200
Oculodentodigital Dysplasia
Cerebral calcification, Ataxia, Abnormal dental enamel morphology, Camptodactyly of finger, Hypog... ORPHA:2710
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Hypouricemia, Microcephaly, Spastic tet... OMIM:252160
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Optic ... ORPHA:2260
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Alström Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertension, Typical absence s... ORPHA:64
Nephrogenic Diabetes Insipidus
Failure to thrive, Anorexia, Hypovolemia, Seizure, Polydipsia, Hypernatremia ORPHA:223
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Abnormal cerebral white matter morphology, Hypokalemia, Glycosu... ORPHA:411629
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Shashi-Pena Syndrome
Hypoglycemia, Reduced cerebral white matter volume, Patent ductus arteriosus, Seizure, Atrial sep... OMIM:617190
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Seizure OMIM:608688
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Seizure, Polydipsia, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Seizure, Polydipsia, Hypernatremia, Failure to thrive OMIM:304800
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Reduced cerebral white matter volume, Inability to walk, Babinski sign, ... OMIM:616420
Thyrotoxic Periodic Paralysis
Tremor, Impaired myocardial contractility, Respiratory paralysis, Periodic hypokalemic paresis, L... ORPHA:79102
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Cerebral calcification, Small ... OMIM:613658
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Chiari type I malformation, Hy... OMIM:270400
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Myocarditis, Peritonitis, Rha... ORPHA:810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointes... OMIM:276700
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure... ORPHA:447997
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Flexion contra... OMIM:609541
Aromatase Deficiency
Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hepati... ORPHA:91
Meningioma
Decreased circulating cortisol level, Weak extraocular muscles, Upper limb muscle weakness, Lower... ORPHA:2495
Nmda Receptor Encephalitis
Generalized-onset seizure, Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms,... ORPHA:217253
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Generalized ... ORPHA:79474
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... OMIM:619127
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Tetraparesis, Myoclonu... OMIM:618972
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Patent duc... OMIM:615398
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Mirage Syndrome
Hyponatremia, Hypoglycemia, Patent ductus arteriosus, Hyperkalemia, Paraplegia, Intracranial hemo... OMIM:617053
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology... ORPHA:261197
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Patent ductus arteriosus, Hypocalcemia, Failure to thriv... OMIM:607143
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Large for gestational age,... ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... OMIM:615595
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Seizure, ... ORPHA:411634
Glucocorticoid Resistance, Generalized
Hypertension, Increased circulating cortisol level, Hypoglycemia OMIM:615962
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Bundle branch block, Hyperactivity, Short attention span, Bradyphrenia, Facial hy... ORPHA:589821
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Hypoalbuminemia, Internal hemorrhag... ORPHA:99826
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Hiatus hernia, Hypertonia, Syncope,... OMIM:614618
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:300607
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... OMIM:274300
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Hypoglycemia, Microcephaly, Chorea, Aplasia/Hypopla... ORPHA:565
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Seizure, Broad-based gait, Myoclonus OMIM:616158
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia, Bicuspid aortic valve, EEG abnormality, Seizure, Abnorma... OMIM:614501
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Small for gestational age, Attention deficit hyperactivity disorder, Hypoglycemia ORPHA:397590
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hep... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Telangiectasia of the skin, Hypoglycemia, Flexion contracture, Hypsarrhythmia... OMIM:616007
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Microcephaly, Generalized muscle weakness, Op... OMIM:253280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign,... ORPHA:468631
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Telangiectasia, Seizur... ORPHA:247262
Adrenocortical Carcinoma
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:1501
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Neuroblastoma, Susceptibility To, 1
Ataxia, Weight loss, Hypertension, Myoclonus, Failure to thrive, Ganglioneuroma OMIM:256700
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Dysphagia, Weight loss, Muscle w... ORPHA:143
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Tics, Atrial septal defect, Patent forame... OMIM:616364
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Paresthesia, Hypocalcemia, Myoclonic spasms... ORPHA:94090
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:619802
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the pons, Subcortical cerebral atrophy, Compulsive... ORPHA:468678
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Facial hypotonia, Large for gestational age, Megalencephaly, Diff... ORPHA:457359
Ogden Syndrome
Generalized-onset seizure, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atria... OMIM:300855
Lathosterolosis
Hepatomegaly, Cerebral calcification, Microcephaly, Intrahepatic cholestasis, Seizure, Chiari mal... ORPHA:46059
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Seizure, Hypertonia, Myoclonus, Umbilical hernia, ... OMIM:149400
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... OMIM:264090
Panhypophysitis
Hyponatremia, Polydipsia, Decreased circulating cortisol level, Orthostatic hypotension ORPHA:95513
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac... ORPHA:537
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthot... OMIM:252150
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Angina pectoris, Hypoglycemia, Cachexia,... ORPHA:109
Teratoma, Pineal
Hemiparesis, Polydipsia, Cerebral calcification OMIM:273120
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Shortened ... OMIM:261740
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements, Muscle weakness, Cognitive impairment ORPHA:209970
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Confusion, Hypertension, Increased circulating cortisol level, Abnorm... ORPHA:95613
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Seizure, Hypokalemia, ... ORPHA:173
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Obesity, Atrial septal defect, Hypercholesterolemia, ... OMIM:619471
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Silver-Russell Syndrome 1
Small for gestational age, Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Obesit... ORPHA:91355
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis OMIM:603776
Basilicata-Akhtar Syndrome
Seizure, Neonatal hypoglycemia, Progressive spasticity, Camptodactyly OMIM:301032
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:607398
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, Seizure... ORPHA:90790
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Dysphagia, Muscle weakness, Hypo... ORPHA:99880
Adrenomyodystrophy
Seizure, Failure to thrive, Hepatic steatosis, Myopathy ORPHA:977
Ochoa Syndrome
Hypertension, Polydipsia ORPHA:2704
Oromandibular Dystonia
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Weight loss, Blepharospasm, Hyperkinet... ORPHA:93958
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Ophthalmoplegia, Myoclonus, Cardiac arrest ORPHA:168593
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hypertension, Increased circulating cortisol level, Abdominal obesity, Hyp... OMIM:615954
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Absent septum pellucidum, Pate... ORPHA:438213
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi... ORPHA:79255
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Microcephaly, Patent ductus arteriosus, Seizure, Atrial septal defect, Joint contra... OMIM:618005
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Poor head control, Ataxia, Bilateral tonic-clonic seiz... OMIM:617799
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concentration, Hypox... ORPHA:36238
Listeriosis
Somatic sensory dysfunction, Liver abscess, Ataxia, Pericarditis, Tremor, Congestive heart failur... ORPHA:533
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Epileptic spasm, Inguinal hernia, Femoral hernia, Absent septum pellucidum,... ORPHA:96147
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Tachycardia, Hypoglycemia, Hepatomegaly OMIM:229700
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Ventricular septal defect, Hepatocellular ca... OMIM:118450
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Progressive flexion contractures, Repetitive compulsive behavior, Chorea, EEG with focal ... ORPHA:522077
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Decreased muscle mass, Facial hypotonia, Microcephaly, Overweight, Inability ... OMIM:613744
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Paraspinal muscle hypertrophy, Rigidity, Falls, ... ORPHA:3198
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Microcephaly, Focal-onset seizure, Generali... OMIM:619297
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Clonus, Hypoammonemia, Abnormal dental enamel morphology, Hypophos... ORPHA:534
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater... OMIM:614231
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Vasculitis in the skin, Failure to thrive, Cortic... OMIM:615816
Distal Renal Tubular Acidosis
Paralysis, Respiratory insufficiency due to muscle weakness, Hypokalemia, Polydipsia, Failure to ... ORPHA:18
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... OMIM:615751
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Poor head control, GM2-ganglioside accum... OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Clonus, Microcephaly, Flexion contracture, Elbow f... OMIM:617301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventration, Hepatic s... OMIM:619503
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Microcephaly, Insulin... ORPHA:508
Pituitary Dermoid And Epidermoid Cysts
Seizure, Polydipsia, Abnormal central motor function, Generalized muscle weakness ORPHA:91351
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Omphalocele, Epileptic spasm, Bilateral tonic-clonic seizure with generalized... OMIM:619124
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Macroglossia OMIM:614450
Congenital Macroglossia
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Transient ischemic attack, Focal hemiclonic seizure, Congestive heart ... ORPHA:1830
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital diaphragmatic hernia, Atrial septal defect, Hepatoblastoma, Agene... ORPHA:373
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... OMIM:131100
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia OMIM:614619
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... ORPHA:230
9P13 Microdeletion Syndrome
Hand tremor, Myoclonus, Attention deficit hyperactivity disorder, Bruxism, Umbilical hernia ORPHA:324313
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... ORPHA:163985
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Optic nerve hypoplasia, Overweight, Abnormal cerebellum morphology, Macroglossia, B... ORPHA:226307
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Seizure, EEG abnormality, Ad... ORPHA:1930
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma,... OMIM:232240
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Optic atrophy, Fatigable weakness, Hyperphosphatemia, P... ORPHA:428
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recur... ORPHA:813
Deeah Syndrome
Hepatomegaly, Decreased heart rate variability, Impaired pain sensation, Dysphagia, Seizure, EEG ... OMIM:619004
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Facial hypotonia, M... ORPHA:438216
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... ORPHA:90791
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Microcephaly, Type II diabetes mellitus, Faci... OMIM:210900
Hypomagnesemia 3, Renal
Seizure, Hyperuricemia, Hypomagnesemia, Polydipsia, Failure to thrive OMIM:248250
Neurooculorenal Syndrome
Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Dextrocardia, Conjugated hype... OMIM:620305
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Seizure, Hypertonia ORPHA:79477
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Aggressive behavior, Increased body weight, Self-i... OMIM:300860
Pituitary Stalk Interruption Syndrome
Seizure, Septo-optic dysplasia, Failure to thrive, Hypoglycemia ORPHA:95496
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Leiomyosarcoma, Hepatob... ORPHA:116
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Hypotension ORPHA:95619
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... OMIM:210250
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Acute Lung Injury
Shock, Acute pancreatitis, Elevated circulating C-reactive protein concentration, Diffuse alveola... ORPHA:178320
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Paresthesia, Hypocalcemia, Myoclonic spasms... ORPHA:94089
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk, Seizure, Hypoplasia of the corpus callosum, Brai... OMIM:620114
Cushing Disease
Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso... ORPHA:96253
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Bicarbonaturia, Hypovolemia, Subvalvular aortic stenosis, Hypokalemia,... ORPHA:47159
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... OMIM:618183
Renal Hypoplasia
Hypertension, Polydipsia, Small for gestational age ORPHA:93101
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Obesity, Neonatal hypoglycemia OMIM:608624
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... OMIM:602522
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, EEG with generalized slow activity, Tonic seizu... OMIM:618367
Kabuki Syndrome 2
Microcephaly, Seizure, Pulmonic stenosis, Decreased body weight, Atrial septal defect, Atrioventr... OMIM:300867
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Insulin resistance, Poor coordination, Biliary tract abnormality, Obes... OMIM:209900
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Involuntary movements, Megalencephaly, Inability to walk, Unsteady gait, F... ORPHA:3063
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail... ORPHA:73224
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Memory impairment, Seizure, Hype... ORPHA:3166
Nephronophthisis 11
Polydipsia, Hepatic fibrosis OMIM:613550
Immunodeficiency, Common Variable, 10
Chiari type I malformation, Hypoglycemia OMIM:615577
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Seizure, Hypomagnese... OMIM:223360
Nephronophthisis 3
Polydipsia, Hepatic fibrosis OMIM:604387
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypovolemia, Abnormal circulati... ORPHA:168558
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Seizure, Cogn... ORPHA:324
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypovolemia, Abnormal circulati... ORPHA:289548
Pgm3-Cdg
Ataxia, Seizure, Myoclonus, Vasculitis in the skin, Failure to thrive, Cortical myoclonus ORPHA:443811
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, T... ORPHA:391665
Pituitary Hormone Deficiency, Combined, 6
Seizure, Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pancreatoblastoma, Myocardial infarction, Pancreatic endocrine tumor, Increased body we... ORPHA:99889
Costello Syndrome
Hypoglycemia, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Cerebral ... OMIM:218040
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Insulin resistance, Abnormal heart morphology, ... ORPHA:96182
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,... ORPHA:2752
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Seizure, Hyperuricemia, Hypophosp... ORPHA:469
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculom... OMIM:612291
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom... OMIM:267000
Sotos Syndrome
Cerebellar vermis hypoplasia, Neonatal hypoglycemia, Tremor, Flexion contracture, Atrial septal d... ORPHA:821
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Prolonged QT interval, Atrial septal defect, Failure to thrive in ... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Prolonged QT interval, Atrial septal defect, Failure to thrive in ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Prolonged QT interval, Atrial septal defect, Failure to thrive in ... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Prolonged QT interval, Atrial septal defect, Failure to thrive in ... ORPHA:881
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Reduced cerebral white matter volume, Large for gestational age, Gait ataxia, Myoclonic seizure, ... OMIM:280000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Microcephaly, Flexion contracture, Optic atrophy, Abdominal obesity, Azot... OMIM:619321
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Arteritis, Prolonged neonatal jaundice OMIM:233600
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated... OMIM:619525
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Generalized non-motor (absence)... ORPHA:293978
Helix Syndrome
Hypokalemia, Polydipsia, Hypermagnesemia OMIM:617671
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Obesity, Dysmetria, Gait ataxia, Hypsarrhythmia, Seizure, Abnormal c... ORPHA:75857
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Pituitary Hormone Deficiency, Combined, 2
Seizure, Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Nephronophthisis 1
Hypertension, Polydipsia OMIM:256100
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi... ORPHA:3337
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Myoclonus, Microcephaly ORPHA:1352
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Ventricular septal defect, Microcephaly, Splenomegaly, Patent du... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 68
Microcephaly, Patent ductus arteriosus, Joint contracture of the 5th finger, Attention deficit hy... OMIM:619934
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Microcephaly, Fa... ORPHA:284339
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Nephronophthisis 4
Polydipsia OMIM:606966
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Hemiparesis, Seizure, Hypertension... OMIM:235400
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration OMIM:266900
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Woodhouse-Sakati Syndrome
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Choreoathetosis, Dystonia,... ORPHA:3464
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyper... OMIM:130650
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Woodhouse-Sakati Syndrome
Diabetes mellitus, Hyperlipidemia, Choreoathetosis, Abnormality of extrapyramidal motor function,... OMIM:241080
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Hypokalemia, Increased circulating cortisol level, Hypoglycemia ORPHA:786
Isolated Osteopoikilosis
Keloids, Addictive alcohol use, Abnormal heart morphology ORPHA:166119
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Shock, Decreased circulating cortisol level, Neonatal hypoglycemia, Hyperkalemia, H... ORPHA:90794
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Myoclonus, Cognitive impairment, Limb myoclonus ORPHA:1183
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Acute Promyelocytic Leukemia
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Addictive alcohol use, Muscle weak... ORPHA:520
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Secondary Non-Traumatic Avascular Necrosis
Abnormality of connective tissue, Addictive alcohol use, Difficulty walking ORPHA:399180
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia, Tongue fasciculations OMIM:608800
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Vocal cord paralysis, Chiari type I malformation, Glu... OMIM:194050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Micr... OMIM:201750
Doors Syndrome
Small cerebellar cortex, Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, EEG abnorma... ORPHA:79500
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Holoprosencephaly 1
Hypoglycemia, Microcephaly, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum, Single v... OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Hypoglycemia, Absent septum pellucidum, Optic nerve hypoplasia, Seizure, H... ORPHA:95494
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Congestive heart failure, Schwannoma, Cardiac my... ORPHA:1359
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Hellp Syndrome
Elevated hepatic transaminase, Cerebral hemorrhage, Increased body weight, Hypotension, Internal ... ORPHA:244242
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, ... OMIM:619522
Non-Acquired Panhypopituitarism
Hypoglycemia, Hypotension ORPHA:90695

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Epm2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Epm2a.

No publications found that use IMPC mice or data for Epm2a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Epm2atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Epm2atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter