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Gene: Epm2a MGI:1341085

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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
Lafora bodies, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure with foc... ORPHA:501
Myoclonic Epilepsy Of Lafora
Gait disturbance, Dementia, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Progressive... OMIM:254780

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Seizure, Cerebral atrophy, Abnormal pyramidal sign, Hypert... ORPHA:363400
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Axonal degeneration, Peripheral axonal degeneration, Dementia, Choreoathetosis, Distal sensory im... OMIM:208920
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Neuronal loss in central nervous system, Myoclonus, Seizure, Ataxia, Trem... OMIM:615924
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration, Paraparesis... OMIM:302800
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polypha... ORPHA:324575
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Gowers sign, Proximal muscle weakness, Increased muscle lipid content, Myopathy, El... OMIM:610717
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Generalized muscle weakn... ORPHA:399
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276580
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Proximal muscle weakness, Gait disturbance, Hyperlipidemia, Hand tremor, Axo... OMIM:604484
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Hypoketotic hypoglycemia, Polyphagia, Palpita... ORPHA:276556
Lipodystrophy, Familial Partial, Type 7
Babinski sign, Clonus, Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Los... OMIM:606721
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... ORPHA:98856
Lafora Disease
Lafora bodies, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure with foc... ORPHA:501
Early-Onset Lafora Body Disease
Lafora bodies ORPHA:324290
Dementia, Lewy Body
Lewy bodies OMIM:127750
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Seizure, Cerebral atrophy, Interictal EEG abnormality, Motor deterioration, EEG with ... ORPHA:79263
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset tr... ORPHA:71529
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Peripheral axonal neuropathy, Impaired distal tactile sensation, Decreased dist... OMIM:618400
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Motor axonal neur... ORPHA:52430
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Proximal muscle weakness in lower limbs, Neck flexor weakness, Elevated circulating ... OMIM:618138
Insulinoma
Lethargy, Neuroendocrine neoplasm, Paresthesia, Polyphagia, Palpitations, Hyperinsulinemic hypogl... ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Peripheral axonal neuropathy, Frequent falls, Distal amyotrophy, Myoclon... OMIM:607317
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Abnormal heart morphology, Cognitive impairment, Myocl... ORPHA:79262
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Distal amyotrophy, Steppage gait, Global brain atrophy, Spastic d... ORPHA:94124
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Proximal muscle weakness, Dementia, Frequent falls, Progressive distal muscular atro... OMIM:159950
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor funct... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Peripheral axonal neuropathy, Cerebellar atrophy, Distal amyotrophy, Steppage ga... OMIM:607250
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolem... OMIM:610947
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... OMIM:601596
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Pituitary hypothyroidism, Hypoglycemic s... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Pituitary hypothyroidism, Hypoglycemic s... ORPHA:71526
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Chorea, Myoclonus, Hyperglycinemia, Increased circulating free fatty ... ORPHA:941
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Dementia, Increased neuronal autofluorescent lipopigment, Myoclonus, Leukoencephalopathy, Abnorma... OMIM:204300
Hemimegalencephaly
EEG with focal sharp slow waves, Seizure, Polymicrogyria, Interictal EEG abnormality, Focal corti... ORPHA:99802
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... ORPHA:95434
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Dysphagia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Hyperpheny... OMIM:261630
Epilepsy, Progressive Myoclonic, 10
Dementia, Lafora bodies, Cognitive impairment, Myoclonus, Spastic ataxia, Spastic tetraplegia, Se... OMIM:616640
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Dysphagia, Limb myoclonus, Typical absence seizure, Fre... ORPHA:2590
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Myopathy, Dystonia, Failure to thrive, Cardiomyopathy, Ketotic hypoglycemia, Eleva... ORPHA:26792
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Seizure, Ataxia, E... OMIM:600143
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... ORPHA:225154
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Prolonged QT inter... ORPHA:71212
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Cerebellar atrophy, Dementia, Gait disturbance, Dystonia, Elevated ... OMIM:614298
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Dystonia, Hypoglycemia, Failure to thrive, Seizure, Progressive cerebellar ataxia, ... ORPHA:67046
Spinocerebellar Ataxia 17
Seizure, Dementia, Dysmetria, Neuronal loss in central nervous system, Bradykinesia, Intention tr... OMIM:607136
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin deficiency, Cholestasis, Adre... OMIM:609734
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Failure to thrive, Chorea, Focal T2 hyperintense basal ga... ORPHA:70472
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Gowers sign, Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Obesity, Abnormal cir... ORPHA:171706
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramida... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Psychomotor deterioration, Increased neuronal autofluorescent lipopigment, Myoclon... OMIM:256730
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Amyotrophic later... OMIM:602433
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Spinocerebellar Ataxia 19
Postural tremor, Dysphagia, Cerebellar atrophy, Cognitive impairment, Myoclonus, Cogwheel rigidit... OMIM:607346
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... OMIM:618876
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Cognitive impairment, Postural hypotension with compensatory tac... ORPHA:369873
Autosomal Recessive Spastic Paraplegia Type 48
Elevated circulating creatine kinase concentration, Spastic gait, Myoclonus, Cognitive impairment... ORPHA:306511
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, EEG with polyspike wave c... ORPHA:308
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Arthrogryposis multiplex congenita, Spastic tetraplegia, Hypsarrhythmia, Sta... OMIM:618285
Distal Myopathy, Tateyama Type
Clumsiness, Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand mu... ORPHA:488650
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Abnormal mitochondria in muscle tissue, Peripheral axonal neuropathy, Cerebellar atroph... ORPHA:313772
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Babinski sign, Neuronal loss in central nervous system, Myoclonus, F... OMIM:611721
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Mental deterioration OMIM:616187
Juvenile Huntington Disease
Dystonia, Dementia, Cerebellar atrophy, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight ... ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Myoclonus, Seizure, Inability to walk, Polymicrogyria, Hyperkinetic movements, ... OMIM:614254
Myoclonic Epilepsy Of Lafora
Gait disturbance, Dementia, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Progressive... OMIM:254780
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia, Seizure, Abnormality of the basal ganglia, Cerebral atrophy, Hypert... ORPHA:391428
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy OMIM:608907
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Dysphagia, Ragged-red muscle fibers, Gait disturbance, E... ORPHA:276435
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Clonus, Weakness of facial musculature, Distal amyotrophy, Failure to t... OMIM:618811
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hyperammonemia, Jaundice, Lethargy, Ventricular septal defect, Atrial sep... ORPHA:26793
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Babinski sign, Ragged-red muscle fibers, Abnormal mitochon... OMIM:252011
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Proximal muscle weakness, Abnormal circulating creatine kinase concentration, Myopa... ORPHA:369840
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Photosensitive myoclonic seizure, Cerebellar atrophy, Febrile seizure (within the ... ORPHA:263516
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Distal amyotrophy, Axonal degeneration, Dis... OMIM:606482
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Ventricular hyper... OMIM:619048
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Myoclonus, Seizure, Ataxia, Muscle weakness, Spasticity, Incr... OMIM:545000
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... ORPHA:79299
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic... OMIM:616981
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypertrophic cardiomyopathy, Hypoglyc... OMIM:212140
Parkinson Disease 21
Lewy bodies OMIM:616361
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Increased extraneuronal autofluorescent li... OMIM:204200
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Global brain a... OMIM:609056
Lipodystrophy, Familial Partial, Type 4
Hypertension, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, ... OMIM:613877
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Seizure, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Obesity, Cessation... ORPHA:411515
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... ORPHA:282166
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... ORPHA:280356
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory im... OMIM:616155
Riboflavin Transporter Deficiency
Hypertension, Dysphagia, Abnormal cranial nerve morphology, Optic disc pallor, Skeletal muscle at... ORPHA:97229
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Febrile seizure (within the age range of 3 months to 6 years), Hypoglycemi... ORPHA:42
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysphagia, Dystonia, Dysmetria, Neurodegenerati... OMIM:610217
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... OMIM:232400
Developmental And Epileptic Encephalopathy 1
Dystonia, Dysphagia, Tonic seizure, Choreoathetosis, Global brain atrophy, Focal motor seizure, H... OMIM:308350
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar verm... ORPHA:98763
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Myoclonus, Hypsarrhythmia, Seizure, Spasticity, Cerebral cortical atrophy OMIM:617065
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysphagia, Cerebellar atrophy, Skeletal muscle atrophy, Bilateral tonic-clonic seizure,... OMIM:614487
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertension, Increased facial adipose tissue, Loss of subcutaneous adipose tissue ... OMIM:608600
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Myoclonus, Splenomegaly, Seizure, Intention tremor, Hypersplen... OMIM:610539
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... OMIM:616516
Morgagni-Stewart-Morel Syndrome
Hypertension, Cognitive impairment, Memory impairment, Hyperuricemia, Hypercholesterolemia, Seizu... ORPHA:77296
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Dystonia, Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal mot... ORPHA:352596
Lipodystrophy, Familial Partial, Type 6
Proximal muscle weakness, Insulin resistance, Abnormal circulating lipid concentration, Elevated ... OMIM:615980
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Seizure, Cerebral atrophy, Brain atrophy, Attention deficit hyperactivity disord... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Dysphagia, Dystonia, Hypoplasia of the pons, Myoclonus, Hypsarrhythmia, Microcepha... OMIM:617669
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Dementia, Gait disturbance, Caudate atrophy, Memory impairment, Myoclonus, Leukoen... OMIM:618193
Gerstmann-Straussler Disease
Parkinsonism, Dementia, Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremo... OMIM:137440
Hsd10 Disease
Optic atrophy, Dysphagia, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Seizure, Focal ... ORPHA:391417
Caribbean Parkinsonism
Dystonia, Midline brain calcifications, Dementia, Weakness due to upper motor neuron dysfunction,... ORPHA:97355
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to... ORPHA:2394
Mehmo Syndrome
Babinski sign, Hypoglycemia, Small for gestational age, Gait ataxia, Seizure, Spastic tetraparesi... OMIM:300148
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive, Myoclonus, Seizure, Progressive microcephaly, Hypertonia, Unstea... OMIM:610090
Coenzyme Q10 Deficiency, Primary, 4
Proximal muscle weakness, Cerebellar atrophy, Myoclonus, Increased intramyocellular lipid droplet... OMIM:612016
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Abnor... ORPHA:314632
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, EEG abnormality, Spasticity, Secondary m... OMIM:617829
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Failure to thrive, Abnormal circulating threonine concentration, Global brain atrop... ORPHA:79096
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early... ORPHA:3006
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... ORPHA:401901
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Seizure, Inability to walk, Hyperkinetic movements, Cerebra... OMIM:618497
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Obesity, Cognitive impairment, Ventricular septal hyper... OMIM:614947
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Failure to thrive, Myoclonus, Seizure, Ataxia, Spasticity, Microcephaly OMIM:612015
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Peripheral axonal degeneration, Small for gestational age, Limb muscle w... OMIM:604320
Dentatorubral-Pallidoluysian Atrophy
Dementia, Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy o... OMIM:125370
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Hypokalemia, Polydipsia, Salt craving, Hypomagn... ORPHA:199343
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Seizure, Cerebral... OMIM:616878
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Cognitive impairment... ORPHA:561854
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Optic atrophy, Dysphagia, Gait disturbance, Dystonia, Chorea, Myoclonus, A... OMIM:617282
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Hypoglycemia, Small for gestational age, Fa... OMIM:614702
Frontotemporal Dementia
Polyphagia, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Frontal lobe ... OMIM:600274
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Hepatic fibrosis, Increased sarcoplasmic gly... ORPHA:370
Peho-Like Syndrome
Optic atrophy, Cerebellar atrophy, Myoclonus, Hypsarrhythmia, Seizure, Pachygyria, Progressive mi... OMIM:617507
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hyperglycinemia, Seizure, Epileptic spasm, Cerebral white matter hypoplasia, Knee ... ORPHA:284417
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Proximal muscle weakness, Dystonia, Cerebellar atrophy, Myoclonus, Seizure, Progressive cerebella... ORPHA:139485
Neuroferritinopathy
Abnormality of the basal ganglia, Decreased circulating ferritin concentration, Caudate atrophy, ... ORPHA:157846
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Atax... OMIM:246900
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive, Myoclonus, Decreased nerve condu... OMIM:618356
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Dystonia, Opisthotonus, Failure to thrive, Chorea, Myoclonus, M... OMIM:616672
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Seizure, Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies OMIM:619133
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Focal T2 hyperintense basal ganglia lesion, Stereotypy, Seizure, Cerebral atrophy, In... ORPHA:79264
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Seizure, Ataxia, Spasticity OMIM:240800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... ORPHA:98853
Creutzfeldt-Jakob Disease
Dementia, Memory impairment, Myoclonus, Extrapyramidal muscular rigidity, Hemiparesis, Gait ataxi... OMIM:123400
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia, Cerebellar hypoplasia OMIM:616113
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Global brain atrophy, Focal impaired awareness seizure, Elevated circulating acylca... ORPHA:480864
Late Infantile Neuronal Ceroid Lipofuscinosis
Stereotypy, Seizure, Corpus callosum atrophy, Cerebral atrophy, Focal-onset seizure, Motor deteri... ORPHA:168491
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Myoclonu... OMIM:221770
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Paresthesia, Dysmetria, Motor axonal neuropathy, Acute rhabdomyolysis, Intention tr... ORPHA:48431
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Seizure, Akinesia, Tongue fasc... ORPHA:99
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Dementia, Neuronal loss in central nervous system, Myoclonus, Abnormality of extra... ORPHA:204
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Bil... ORPHA:178469
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous ad... OMIM:604367
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Spee... ORPHA:79237
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decreased cervical spine flex... ORPHA:98863
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... OMIM:256810
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle hypertrophy, Insulin resistance, Macro... ORPHA:528
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Knee flexion contracture, E... OMIM:619303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Optic atrophy, Poor head control, Hypertrophic cardiomyopat... OMIM:614299
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyper... ORPHA:369
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Polyphagia, Recurrent hypoglycemia, Obesity... ORPHA:254516
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Generalized amyotrophy, Progressive gait ataxia, Intention tremor, Progressive cerebel... ORPHA:2589
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in lower limbs, Loss of subcutaneous adipose tissue in lim... ORPHA:435660
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Dementia, Myoclonus, Seizure, Ataxia, Generalized myoclonic seizure OMIM:208700
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Cog8-Cdg
Poor head control, Cerebellar atrophy, Hypoglycemia, Skeletal muscle atrophy, Failure to thrive, ... ORPHA:95428
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Facial palsy, Neonatal hypoglycemia, Muscle weakness, Hypocalcemia... OMIM:606407
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Proximal muscle weakness in upper limbs, Decre... ORPHA:98855
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Citrullinemia Type Ii
Hyperlipidemia, Decreased body mass index, Seizure, Cerebral edema, Lethargy, Decreased HDL chole... ORPHA:247585
Tay-Sachs Disease
Clumsiness, Global brain atrophy, Quadriceps muscle atrophy, Focal impaired awareness seizure, Fa... ORPHA:845
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dysphagia, Dystonia, Gait imbalance, Choreoathetosis, Elevated ci... ORPHA:64753
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... OMIM:619028
Pick Disease Of Brain
Frontotemporal dementia, Neuronal loss in central nervous system, Polyphagia, Stereotypy OMIM:172700
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Dysgenesis of the cerebellar vermis, Failure to thrive, Cardiomyopathy, Decreased l... ORPHA:67048
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Lower limb muscle weakness, Knee clonus, Ankle ... OMIM:604360
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Increased LDL cholesterol c... OMIM:616828
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Increased intramyocellular lipid ... ORPHA:98908
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Seizure, Abnormal periventricular white matter morphology, Facial myokymia,... ORPHA:139396
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:66628
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Paresthesia, Leukoencephalopathy, Dementia, External o... ORPHA:298
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... OMIM:614963
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosi... OMIM:616505
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Hypoglycemia, Choreoathetosis, Progressive neurologic... OMIM:300438
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, St... OMIM:615338
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Angelman Syndrome
Seizure, Recurrent hand flapping, Optic disc pallor, Polyphagia, Tongue thrusting, EEG abnormalit... ORPHA:72
Alzheimer Disease 3
Babinski sign, Dysphagia, Dementia, Gait disturbance, Dystonia, Memory impairment, Myoclonus, Abn... OMIM:607822
Leigh Syndrome
Multiple joint contractures, Neuronal loss in basal ganglia, Hypoglycemia, Focal T2 hyperintense ... ORPHA:506
Cog4-Cdg
Failure to thrive in infancy, Limb hypertonia, Fatal liver failure in infancy, Hypercholesterolem... ORPHA:263501
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seiz... ORPHA:485350
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Myoclonus, Seizure, Ataxia, Tremor, Difficult... OMIM:614018
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Abnormal auditory evoked potentials, Global brain atrophy,... ORPHA:909
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Dandy-Walker malformation, Hepatomegaly, Myopathy, Decreased plasma free carnitine, Hypoketotic h... ORPHA:228305
Early Myoclonic Encephalopathy
Dysphagia, Infantile spasms, Focal tonic seizure, Myoclonus, Focal motor seizure, Hypsarrhythmia,... ORPHA:1935
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Dystonia, Methylmalonic acidemia, Hypoglycemia, Failure to thrive, Memory ... ORPHA:289504
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Bi... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:619386
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:179494
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Dementia, Rigidity, Distal amyotrophy, Dilated fourth ventricle, Dysm... OMIM:183090
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosi... OMIM:614300
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia, Tall stature OMIM:618406
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave c... OMIM:254800
Adrenomyeloneuropathy
Peripheral axonal degeneration, Babinski sign, Abnormality of central somatosensory evoked potent... ORPHA:139399
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Hepatomegaly, Optic atrophy, Telangiectasia, Paresthesia, Myoclonus,... ORPHA:79279
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Splenomegaly, Lipoatrophy, Diab... ORPHA:79083
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, K... OMIM:615490
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Glycerol Kinase Deficiency
Myopathy, Hypoglycemia, Small for gestational age, Seizure, Muscular dystrophy, Hypertriglyceride... OMIM:307030
Obesity, Hyperphagia, And Developmental Delay
Seizure, Obesity, Polyphagia, Stereotypy OMIM:613886
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Polyphagia, Neurofibrillary tangles, Neuronal loss in central nervous system, Memor... OMIM:607485
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dysphagia, Hypertension, Dementia, Rigidity, Frequent fal... ORPHA:75567
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Endocardial Fibroelastosis
Hypoglycemia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Cognitive impairment, Seizu... ORPHA:2022
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Atrophy/Degeneration affecting the brainstem, Neonatal hypoglycemia, Seizure, Co... ORPHA:565624
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Axonal degeneration, Positive Romberg sign, Truncal ti... ORPHA:88628
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia OMIM:612736
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Skeletal mus... ORPHA:264580
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Pericarditis, Polydipsia, Insulin resistance, ... ORPHA:3452
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Dysphagia, Hypoglycemia, Progressive neurologic deterioration, Hyperammonemia, Cer... OMIM:618253
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Optic atrophy, Fasting hypoglycemia, Hypoglycemia, Seizure, Hepatic steatosis, Cyan... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Poor head control, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:289266
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Niemann-Pick Disease, Type C1
Hepatomegaly, Dysphagia, Dementia, Dystonia, Cataplexy, Neuronal loss in central nervous system, ... OMIM:257220
Early-Onset Autosomal Dominant Alzheimer Disease
Parkinsonism, Dementia, Semantic dementia, Memory impairment, Myoclonus, Seizure, Ataxia, Hyperto... ORPHA:1020
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Cerebellar atrophy, Failure to thrive, Myoclonus, Seizure, Ataxia, Hypertonia, Spas... OMIM:618426
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Hyperekplexia 4
Distal arthrogryposis, Myoclonus, Hypsarrhythmia, Inguinal hernia, Seizure, Hypertonia, Flexion c... OMIM:618011
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... ORPHA:79240
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Babinski sign, Dysphagia, Dementia, Dystonia, Rigidity, Cognitive impairment, Myocl... ORPHA:171695
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Decreased resting energy expenditure, Impaired oropharyngeal sw... ORPHA:404454
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Hypertension, Progressive psychomotor deterioration, Polyphagia, Myoclonus, Abnorm... ORPHA:251004
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Dysphagia, Abnormal circulating creatine kinase concentration, Progressive ... ORPHA:199351
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Dyssynergia, Oromandibular dystonia, Seizure, Optic neuropathy, Dementia... ORPHA:101
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Decreased body weight, Hypoglycemia ORPHA:314811
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-re... OMIM:607459
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Proximal muscle weakness, Dysphagia, Prolonged QT interval, Skeletal muscle hypertr... OMIM:613327
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:411602
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Poor head control, Clonus, Dysphagia, Opisthotonus, Dystonia, Rigidity, Choreoathetosis, Chorea, ... ORPHA:13
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atrophy, Impaired tac... OMIM:619092
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Myoclonus, Seizure, Hypertonia, Brain atrophy, Secondary microcephaly OMIM:617290
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Dysphagia, Cerebellar atrophy, Myoclonus, Intention tremor, Generalized-onset se... OMIM:254900
Narp Syndrome
Babinski sign, Proximal muscle weakness, Optic disc pallor, Myoclonic spasms, Dementia, Corticosp... ORPHA:644
Smith-Magenis Syndrome
Impaired pain sensation, Abnormal heart morphology, Stereotypy, Hypercholesterolemia, Seizure, Hy... OMIM:182290
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Postural tremor, Dementia, Dystonia, Kinetic tremor, Cerebral white m... ORPHA:98756
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Microcephaly, Large for gestational age OMIM:617119
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration, Tendon xanthomatosis OMIM:618666
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, L... ORPHA:2348
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Cholangitis, Cerebellar atrophy, H... OMIM:124000
Niemann-Pick Disease, Type C2
Hepatomegaly, Dysphagia, Dementia, Dystonia, Abnormal circulating cholesterol concentration, Cata... OMIM:607625
Parkinson Disease 8, Autosomal Dominant
Substantia nigra gliosis, Lewy bodies OMIM:607060
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, ... ORPHA:445038
Bilateral Generalized Polymicrogyria
Stereotypy, Focal-onset seizure, Oral-pharyngeal dysphagia, Oculogyric crisis, Generalized tonic ... ORPHA:208447
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:616840
Lipodystrophy, Familial Partial, Type 2
Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Increased adipose tissue around... OMIM:151660
Neutral Lipid Storage Disease With Ichthyosis
Central nervous system degeneration, Hepatomegaly, Myopathy, Abnormal circulating creatine kinase... ORPHA:98907
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Optic atrophy, Myoclonus, Seizure, EEG abnormality, Spasticity, Cerebr... OMIM:617281
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Seizure, Diabetes mellitus, Type I diabet... ORPHA:550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... ORPHA:228308
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Cardiomyopathy, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Neonatal hypog... OMIM:619046
Idiopathic Camptocormia
Abnormal pons morphology, Dystonia, Myositis, Elevated circulating creatine kinase concentration,... ORPHA:1320
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Decreased plasma free carnitine, Hyperlipidemia, Elevated circ... ORPHA:157
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... ORPHA:2382
Pediatric-Onset Graves Disease
Hepatomegaly, Hypertension, Atrial fibrillation, Polyphagia, Polydipsia, Palpitations, Failure to... ORPHA:525731
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Dysphagia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, ... OMIM:617672
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... ORPHA:391411
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hype... OMIM:225753
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone level, Attention deficit... OMIM:301033
Dpm1-Cdg
Early onset absence seizures, Seizure, Hepatosplenomegaly, Cerebral atrophy, Camptodactyly, Gener... ORPHA:79322
Infantile Krabbe Disease
Hyperesthesia, Progressive neurologic deterioration, Seizure, Prolonged brainstem auditory evoked... ORPHA:206436
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Generalized amyotrophy, Seizure, Status epilepticus, Gait ataxia OMIM:616540
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Failure to thrive in infancy, Dystonia, Bilateral tonic-clonic seizure, Myoclonus,... OMIM:619065
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Peripheral demy... OMIM:220111
Mitochondrial Complex I Deficiency, Nuclear Type 19
Athetosis, Optic atrophy, Hypertrophic cardiomyopathy, Cerebellar atrophy, Hypoglycemia, Gait dis... OMIM:618241
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Man1B1-Cdg
Polyphagia, Periventricular heterotopia, Truncal obesity, Seizure, Resting tremor, Cerebellar hyp... ORPHA:397941
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young, Poor fine motor coordination ORPHA:254531
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Infantile spasms, Impaired pai... ORPHA:3095
Cystinosis
Gait disturbance, Myopathy, Hypokalemia, Polydipsia, Failure to thrive, Hypophosphatemia, Stereot... ORPHA:213
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Polyphagia, Umbilical hernia, Tall stature, Insulin-re... OMIM:269700
Autosomal Spastic Paraplegia Type 58
Torticollis, Peripheral demyelination, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal... ORPHA:397946
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Failure to thrive, Hypsarrhythmia, Seizure, Sec... OMIM:610768
Parkinson Disease, Late-Onset
Dystonia, Dysphagia, Dementia, Rigidity, Neuronal loss in central nervous system, Bradykinesia, L... OMIM:168600
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Hypoglycemia, Failure to thrive, Abnormality of extr... OMIM:614739
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at ... OMIM:608594
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletio... OMIM:251880
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Increased intramyocellular lipid droplets, Elevated circulating acylcarnitine conce... ORPHA:26791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Seizure, Cerebral atrophy, Gowers sign, Proximal muscle weakness, Speech apraxia, Hepatic steatos... OMIM:615356
Waisman Syndrome
Lewy bodies, Megalencephaly OMIM:311510
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Optic atrophy, Dystonia, Prolonged QT i... ORPHA:66634
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kina... OMIM:212138
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Dysmetria, Failure to thrive, Myoclonus, Progressive neurologic deterior... OMIM:618251
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Mental deterioration, Attention def... OMIM:619191
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Dementia, Limb myoclonus, Paresthesia, Cognitive impairment, Abnormality of extr... ORPHA:356
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, Failure to thrive, Fatigable weakn... ORPHA:99901
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait, Polyphagia, Poor coordination ORPHA:171829
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Hypoglycemia, Skeletal muscle atrophy, Seizu... ORPHA:156
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Hyperalaninemia, Hyperammonemia, Decreased liver functio... OMIM:615160
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in lower limbs, Dysphagia, Skeletal muscle atrophy, Limb ... OMIM:613954
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Poor head control, Ataxia, Eyelid myoclonus, Cerebellar hypoplasia, Cerebral atroph... OMIM:613839
Spinocerebellar Ataxia Type 1
Impaired proprioception, Gait imbalance, Atrophy/Degeneration affecting the brainstem, Fasciculat... ORPHA:98755
Childhood-Onset Spasticity With Hyperglycinemia
Progressive spasticity, Optic atrophy, Babinski sign, Nonketotic hyperglycinemia, Myoclonus, Spas... ORPHA:401866
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Athetosis, Optic atrophy, Dystonia, Cerebellar atrophy, Hypoglycemia, Limb hypertonia, Skeletal m... OMIM:617710
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Classic Galactosemia
Clumsiness, Hepatomegaly, Postural tremor, Lethargy, Hypoglycemia, Gait imbalance, Gait disturban... ORPHA:79239
Nephrotic Syndrome, Type 14
Hypoglycemia, Seizure, Ataxia, Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration, Micro... OMIM:617575
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Slender build, Distal muscle weakness OMIM:300699
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concen... OMIM:618120
Pyruvate Carboxylase Deficiency
Hepatomegaly, Clonus, Hypoglycemia, Neuronal loss in the cerebral cortex, Hyperalaninemia, Seizur... OMIM:266150
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dysphagia, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesi... OMIM:168601
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Neuronal loss in central nervou... OMIM:614498
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Fasciculations, ... OMIM:164400
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclo... ORPHA:251347
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Bilateral tonic-clonic seizure, Myoclonus, Splenomegaly ORPHA:139406
Glutaric Acidemia I
Hepatomegaly, Dystonia, Hypoglycemia, Opisthotonus, Rigidity, Choreoathetosis, Failure to thrive,... OMIM:231670
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Seizure, Tremor OMIM:611092
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Optic atrophy, Poor head control, Cerebellar atrophy, Hypoglycemia, ... OMIM:618329
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonus, Seizure, Ataxia, Brain atrophy, Ophthalmoplegia, Lethargy OMIM:618225
Pontocerebellar Hypoplasia Type 4
Myoclonus, Arthrogryposis multiplex congenita, Primary microcephaly, Seizure, Hypertonia, Olivopo... ORPHA:166063
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Continuous Spikes And Waves During Sleep
Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... ORPHA:725
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Hypoplasia of the pons, Congenital contracture, Fasciculations, B... OMIM:607596
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Telangiectasia, Insulin resistance, Lipodystrophy, Hepatic steatosis, Hypertriglyce... OMIM:615381
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Familial Infantile Myoclonic Epilepsy
Clumsiness, Simple febrile seizure, EEG with focal spike waves, Cerebellar atrophy, Limb myoclonu... ORPHA:352582
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor,... OMIM:608105
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus ORPHA:36899
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Torticollis, Cognitive impairment, Myoclonus, Oromandibular dystonia,... OMIM:617284
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Subdural hemorrhage, Seizure, Abnormality of the basal ganglia, Dementia, T... ORPHA:25
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Skeletal muscle atrophy, Muscle weakness OMIM:162100
Primary Pigmented Nodular Adrenocortical Disease
Proximal amyotrophy, Proximal muscle weakness, Cardiac myxoma, Hypertension, Type II diabetes mel... ORPHA:189439
Kohlschutter-Tonz Syndrome-Like
Global brain atrophy, Stereotypy, Seizure, Focal-onset seizure, Decreased body weight, Generalize... OMIM:619229
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Japanese Encephalitis
Decreased motor nerve conduction velocity, Interictal epileptiform activity, Cerebral edema, Abno... ORPHA:79139
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Seizure, Gait disturbance, Dementia, Bradykinesia, Leg muscle stiffness... OMIM:606693
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemia, Bilater... ORPHA:369929
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Leukoencephalopathy, Generalized amyotrophy, Neonatal hypoglycemia, Seizure, Cer... ORPHA:572798
Glycine Encephalopathy
Myoclonus, Hyperglycinemia, Seizure, Hyperactivity, Agenesis of corpus callosum, Lethargy OMIM:605899
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Babinski sign, Dysphagia, Dystonia, Diffuse hepatic steatosis, Seizu... OMIM:264470
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, EEG with focal epileptiform discharges, Cognitive impairment, Myoclonus, ... ORPHA:163921
Gangliocytoma
Abnormal prolactin level, Dementia, Paresthesia, Polyphagia, Abnormality of the pituitary gland, ... ORPHA:251937
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Gaucher Disease, Type Iii
Hepatomegaly, Dementia, Myoclonus, Progressive neurologic deterioration, Splenomegaly, Ataxia, De... OMIM:231000
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Poor head control, Cerebellar atrophy, Failure to thrive, Myoclonus, Hypsarrhythmia, Cerebral atr... OMIM:619060
Leptin Deficiency Or Dysfunction
Obesity, Abnormal eating behavior, Polyphagia OMIM:614962
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Seizure, Hypoglycemia ORPHA:35701
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Decreased liver function, Hepatic steatosis, Seizure, Spasticity, Elevated hep... OMIM:617093
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Seizure, Inability ... OMIM:615547
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... ORPHA:454887
Infantile Spasms Syndrome
Myoclonus, Hypsarrhythmia, Infantile spasms ORPHA:3451
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Proximal muscle weakness, Ragged-red muscle fibers, Impaired distal propr... ORPHA:70595
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Myoclonus, Spastic tetraplegia, Seizure, Flexion contracture, Cerebr... OMIM:614462
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Cerebellar atrophy, Hypokalemia, Polydipsia, Salt craving, Intention tremor, Hypomagnesemia, Peri... OMIM:612780
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Dysphagia, Impaired temperature sensation, Triceps weakness, Impaired pain sensation, First dorsa... OMIM:619574
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Ventricular tachycardia, Cardiomyop... ORPHA:159
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Seizure, Ataxia, Tetralogy of Fallot, Agenesis of corpus callosum OMIM:250620
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Myoclonus, Hyperuricemia, Hyperammonemia, Seizure, EEG abnormality, S... OMIM:246450
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Seizure, Progressive microcephaly, Increased serum pyruvate OMIM:614741
2Q23.1 Microdeletion Syndrome
Polyphagia, Stereotypy, Seizure, Ataxia, Hyperactivity, Microcephaly ORPHA:228402
Epilepsy, Progressive Myoclonic, 8
Dementia, Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure OMIM:616230
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Dystonia, Ragged-red muscle fibers, Dysplastic corpus callosum, Failure to thrive, ... OMIM:614924
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Seizure, EEG abnorma... OMIM:614946
Spinocerebellar Ataxia Type 36
Babinski sign, Dysphagia, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Loss o... ORPHA:276198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Myoclonus, Tongue thrusting, Abnormal eating behavior, Seizure, Ataxia... ORPHA:98794
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Dia... ORPHA:79084
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Spastic hemiparesis, Leukoencephalopathy, Hyperammonemia, Seizure, Acute ... ORPHA:20
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Periventricular white matter hyperintensities, Seizure, Unsteady gait, Ga... OMIM:618158
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Polyphagia, Tall stature, Incre... ORPHA:300373
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Cognitive impairment, Hyperuricemia, Seizure ORPHA:364
Mitochondrial Trifunctional Protein Deficiency
Generalized muscle weakness, Diffuse hepatic steatosis, Seizure, Lower limb muscle weakness, Leth... ORPHA:746
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hypertension, Decreased HDL ... OMIM:278000
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Dementia, Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal motor... OMIM:604218
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Lower limb spasticity, Seizure, Ataxia, Inability to walk, Waddling gait, Broad-based g... OMIM:616756
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:607876
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia OMIM:262400
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hypertension, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstru... ORPHA:69663
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Hyperglycemia, ST segment depression, Cognitive impai... ORPHA:90065
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Poor head control, Hypoglycemia, Skeletal muscle atrophy, Failure to thrive, Focal T2 hyperintens... OMIM:245400
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Proximal muscle weakness, Dyspha... ORPHA:275872
Fructose And Galactose Intolerance
Seizure, Hypoglycemia OMIM:229500
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss, Hyperactivity, Muscle weakness, Congestive heart failure OMIM:275000
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Seizure, Hepatic steatosis, Lipoatrophy ORPHA:79087
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Gait ataxia, Bradykinesia, Seizu... OMIM:618877
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Ventricular arrhythmia, Increased adipose tissue around the neck, Sp... ORPHA:280365
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglutaminemia, Setting-sun ... OMIM:619355
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Proximal amyotrophy, Neuroendocrine neoplasm, Proximal muscle weakness, Hypertension, Hyperlipide... ORPHA:189427
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... ORPHA:93952
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Focal T2 hyperintense basal ganglia lesion, Increased intramyocellular lipid drople... OMIM:252010
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:615395
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Cerebellar atrophy, Hepatic fibrosis, Dysmetria, Failure to thrive, Seizure, Hepati... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Rigidity, Small for gestational age, Myoclonus, Focal T2 hyperintense thalamic les... OMIM:619057
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... ORPHA:1934
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Acquired Generalized Lipodystrophy
Hepatomegaly, Myopathy, Hypertension, Insulin resistance, Abnormal circulating lipid concentratio... ORPHA:79086
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure ORPHA:86814
Cebalid Syndrome
Seizure, Congenital diaphragmatic hernia, Polymicrogyria, Polyphagia OMIM:618774
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Cerebral cortical atrophy ORPHA:2158
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Hypoglycemia, Failure to thrive, Elevated hepatic transaminase, Microcep... OMIM:618958
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Joint contracture of the hand, Fasciculations, Atrophy of the spinal cor... ORPHA:466768
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Optic neuropathy, Optic disc pallor, Hypoglycemia, Poo... ORPHA:2609
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hypernatremia, Hyperammonemia, Seizure, Abnormal pyramidal sign, Increased caudate ... ORPHA:3008
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... ORPHA:411986
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Seizure, Increased circulating ferritin concentration, Hypertriglycer... OMIM:603552
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Seizure, Hepatosplenomegaly, Acute pancreatitis, Cerebral atrophy, Basa... OMIM:619487
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hypertrophic cardiomyopathy, Hepatomegaly, Optic atrophy, Gait disturbance, Failure to thrive, Re... ORPHA:436271
Juvenile Sialidosis Type 2
Hepatomegaly, Optic atrophy, Dysphagia, Dysmetria, Abnormal heart morphology, Myoclonus, Lower li... ORPHA:93399
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... OMIM:600649
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Microvesicular hepatic steatosis, Hepatomegaly, Cerebellar atrophy, Dementia, Failure ... OMIM:203700
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Decreased muscle mass, Periventricular cysts, Hepatic steatosis, Hepatosplenomeg... OMIM:619013
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Clonus, Limb myoclonus, Focal clonic seizure, Focal to... ORPHA:1949
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Dilated cardiomyopathy, Decreased plasma free carnitine, Hyper... OMIM:608836
Sialidosis Type 1
Gait disturbance, Skeletal muscle atrophy, Myoclonus, Decreased nerve conduction velocity, Hernia... ORPHA:812
Pontocerebellar Hypoplasia, Type 2E
Facial telangiectasia, Optic atrophy, Cerebellar atrophy, Opisthotonus, Tonic seizure, Infantile ... OMIM:615851
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... ORPHA:101085
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... ORPHA:86909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Elevated hepatic transaminase, Hyperglycemia, Impaired pain sensati... ORPHA:293987
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Dysmetria, Myoclonus, Cardiomegaly, Cardiomyopathy, Spleno... OMIM:256550
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Impaired temperature sensation, Polyphagia, Small for gestational age... ORPHA:98754
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, I... ORPHA:90970
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Myoclonus, Cardiomyopathy, Decreased liver function, Pachygyria, Hepatic ... OMIM:614922
Wolfram Syndrome
Optic atrophy, Myopathy, Dementia, Abnormality of mesentery morphology, Polydipsia, Cardiomyopath... ORPHA:3463
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Impaired temperature sensation, Polyphagia, Small for gestational age... ORPHA:98793
Gitelman Syndrome
Prominent U wave, Syncope, Paresthesia, ST segment depression, Raynaud phenomenon, Type I diabete... ORPHA:358
Citrullinemia, Type Ii, Neonatal-Onset