Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
2,4-dienoyl CoA reductase 1, mitochondrial
Synonyms:
1200012F07Rik,  Nadph,  Decr

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Decr1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Decr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormal pyramidal sign, Dystonia, Hepatomegaly, Ataxia, Lethargy, Abnormality of extrapyramidal ... OMIM:618224
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Confusion, Lethargy, Spasticity, Paroxysmal dystonia, Hemipar... OMIM:606777
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperin... ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Drowsiness, Pancreatic islet-cell hyperplasia, Coma, Reac... ORPHA:276608
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Dystonia, Decreased liver function, Hepatomegaly, Ataxia, Lethargy, Elevated hepati... OMIM:246900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Drowsiness, Hepatomegaly, Loss of ... ORPHA:276580
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly, Ataxia, Gait disturbance ORPHA:2274
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Drowsiness, Recurrent hypoglycemia, Hepatomegaly, Loss of consciousness, L... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Type I diabetes mellitus, Hyperinsulinemia, Drowsine... ORPHA:276575
Developmental And Epileptic Encephalopathy 92
Dystonia, Inability to walk, Ataxia, Lethargy, Spasticity, Difficulty walking, Myoclonus OMIM:617829
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Excessive dayt... OMIM:212140
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Coma, Loss of consciousness, Hepatomegal... ORPHA:156
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Dystonia, Lethargy, Hypertonia ORPHA:26792
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Dystonia, Coma, Hepatomegaly, Progressive cerebellar ataxia ORPHA:67046
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Confusion, Leth... ORPHA:71277
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Coma, Hepatomegaly, Lethargy, Hypoketotic hypoglycem... OMIM:255120
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Fasciculations, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceride... OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hepatomegaly, Ataxia, Spasticity, Hypertriglycer... OMIM:615924
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Focal dystonia, Generalized dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... ORPHA:101150
Migraine, Familial Hemiplegic, 1
Drowsiness, Coma, Confusion, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Lethargy, Chorea, Truncal ataxia, B... OMIM:130950
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Cardiomegaly, Ma... OMIM:600649
Hypoglycemia, Leucine-Induced
Hypoglycemia, Drowsiness, Coma, Ataxia, Spasticity, Hyperinsulinemic hypoglycemia OMIM:240800
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Drowsiness, Pancreatic... ORPHA:263455
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Lethargy, Elevated hepatic transaminase, Postpr... ORPHA:2089
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Coma, Hepatomegaly, Lethargy, Elevated hepatic transaminase OMIM:201450
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Frequent falls, Splenomegaly, Hepatomegaly, Ataxia, Gait ataxia, Spasticity, Hep... OMIM:616719
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Difficulty walking, Lethargy OMIM:613710
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Coma, Hepatomegaly, Lethargy, Chorea, Pancreatitis, Hemiplegia/hemipar... ORPHA:289916
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Confusion, Lethargy OMIM:617900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Ataxia, Lethargy, Spasticity, Abnormality of extrapyramidal motor function, Myoclonus OMIM:614299
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Classic Galactosemia
Incoordination, Hepatic failure, Dystonia, Action tremor, Hypoglycemia, Ascites, Ataxia, Jaundice... ORPHA:79239
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Hepatic steatosis, Abnormal pyramidal sign, Insulin resistance, Hyperinsulinemia, H... ORPHA:363400
Cirrhosis, Familial
Micronodular cirrhosis, Jaundice, Lethargy OMIM:215600
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Hepatomegaly, Lethargy ORPHA:28
Insulinoma
Fluctuations in consciousness, Nonketotic hypoglycemia, Hyperinsulinemia, Reduced consciousness/c... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Galactosemia
Hepatic failure, Dystonia, Action tremor, Ascites, Ataxia, Jaundice, Lethargy, Hepatomegaly, Spee... ORPHA:352
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic paraparesis, Coma, Confusion, Decreased liver function, Lethargy... OMIM:238970
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Opisthotonus, Coma, Lethargy, Acute hepatic steatosis OMIM:210200
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619386
Hemochromatosis Type 2
Lethargy, Congenital hepatic fibrosis, Elevated hepatic transaminase, Diabetes mellitus, Abnormal... ORPHA:79230
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Coma, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Ty... ORPHA:79299
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy ORPHA:622
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Intention tremor, Isometric tremor, Bradykinesia, Ataxia... ORPHA:101110
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Confusion, Lethargy OMIM:613002
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance OMIM:300660
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Hypoglycemia, Hepatomegaly, Ataxia, Lethargy, Spasticity, Elevated hepatic trans... ORPHA:2394
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Dystonia, Opisthotonus, Frequent falls, Ina... OMIM:607483
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Gait disturbance OMIM:618400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Coma, Ataxia, Loss of consciousness, Decreased liver function, L... ORPHA:42
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Splenomegaly, He... OMIM:612526
Citrullinemia Type Ii
Hepatic steatosis, Fluctuations in consciousness, Hyperlipidemia, Hypercholesterolemia, Drowsines... ORPHA:247585
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Coma, Hepatomegaly, Ataxia, Lethargy, Paraparesis, Pancreatitis ORPHA:27
Citrullinemia Type I
Hepatic failure, Coma, Ataxia, Loss of consciousness, Lethargy, Spasticity, Torticollis, Slurred ... ORPHA:247525
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Lethargy ORPHA:205
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Lethargy ORPHA:254857
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly, Lethargy OMIM:602390
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Elevated ... OMIM:617156
Typhoid
Hypertonia, Splenomegaly, Hepatomegaly, Coma, Ataxia, Lethargy, Tremor ORPHA:99745
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Drowsiness, Coma, Loss of consciousness, Confusion, Lethargy, Ataxia, Hepatomeg... ORPHA:927
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Lethargy, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Developmental And Epileptic Encephalopathy 41
Inability to walk, Spasticity, Lethargy OMIM:617105
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Hepatomegaly OMIM:617872
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Type II diabetes mellitus, Hypertrig... OMIM:615703
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Splenomegaly, Coma, Hepatomegaly, Lethargy, Pancreatitis ORPHA:79312
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Decreased liver function, Hepatomegaly... OMIM:613280
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Torticollis, P... ORPHA:210571
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Early Myoclonic Encephalopathy
Myoclonus, Lethargy ORPHA:1935
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Lethargy, Acute hepatic failure, Elevated hepatic transaminase OMIM:616483
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Severe Canavan Disease
Inability to walk, Lethargy, Spasticity, Decerebrate rigidity, Babinski sign ORPHA:314911
Glycine Encephalopathy
Myoclonus, Lethargy OMIM:605899
Maple Syrup Urine Disease
Hypoglycemia, Coma, Ataxia, Lethargy, Pancreatitis, Hypertonia OMIM:248600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... ORPHA:314632
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Chorea, Truncal ataxia, Waddling ... ORPHA:369840
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb apraxia, Speech aprax... ORPHA:454887
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Hypercholesterolemia OMIM:616829
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Lethargy OMIM:618225
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 6
Abnormal pyramidal sign, Lethargy OMIM:618228
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Tetraplegia, Lethargy OMIM:274270
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Coma, Fasting hyperinsulinemia, Hyperin... ORPHA:263458
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Coma, Confusion, ... OMIM:603471
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Scissor gait, Loss of ambul... ORPHA:521406
Glutathionuria
Tremor OMIM:231950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Riboflavin Deficiency
Hypoglycemia, Lethargy OMIM:615026
Glycerol Kinase Deficiency
Hypoglycemia, Coma, Loss of consciousness, Lethargy, Hypertriglyceridemia OMIM:307030
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemic seizures, Neonatal hypoglycemia, Confusion, Lethargy, Acute hepat... ORPHA:71212
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Spinocerebellar Ataxia Type 38
Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Coma, Hepatomegaly, Lethargy, Elevated he... OMIM:212138
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Coma, Hepatomegaly, Lethargy OMIM:229700
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly, Lethargy OMIM:619064
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Hepatomegaly, Hepatocellular nec... OMIM:201475
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Episodic ataxia, Dystonia, Lethargy OMIM:312170
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Cholestasis, Bradykinesia, Hepatomegaly, Macrovesicular hepatic s... OMIM:614924
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyc... ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy OMIM:610498
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cogwheel rigidity, Gait disturbance, Limb dysmetria, Truncal ataxia, Falls, M... ORPHA:363710
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb sp... ORPHA:251282
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Dystonia, Hepatomegaly, Ataxia, Acute hepatic fai... OMIM:256810
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality, Tremor ORPHA:79234
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaired tandem gait, Rigidity, Spasticity, G... OMIM:300423
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:610006
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Excessive daytime somnolence, Bradykinesia, ... OMIM:261640
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Spasticity, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly, Lethargy, Tongue fasciculations, Myocl... OMIM:614922
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Tremor OMIM:615048
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis, Babinski sign, ... OMIM:264470
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Limb ataxia, Spasticity, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Lethargy, Spasticity,... ORPHA:765
Central Neurocytoma
Babinski sign, Coma, Ataxia, Lethargy ORPHA:73256
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Hypoglycemia, Lethargy OMIM:618120
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Mitochondrial Complex I Deficiency, Nuclear Type 5
Babinski sign, Dystonia, Ataxia, Lethargy OMIM:618226
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resistant diabetes m... ORPHA:79085
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
X-Linked Charcot-Marie-Tooth Disease Type 1
Excessive daytime somnolence, Tremor, Ataxia, Gait disturbance ORPHA:101075
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Unsteady gait, Nonprogressiv... ORPHA:314978
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Mitochondrial Trifunctional Protein Deficiency
Frequent falls, Left ventricular hypertrophy, Cholestasis, Coma, Lethargy, Hypoketotic hypoglycem... ORPHA:746
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Ataxia OMIM:616113
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... OMIM:604367
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Propionic Acidemia
Hypoglycemia, Dystonia, Coma, Hepatomegaly, Limb hypertonia, Lethargy, Pancreatitis OMIM:606054
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor, Unsteady gait OMIM:616127
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Coma, Jaundice, Lethargy OMIM:228100
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, ... ORPHA:369
Benign Samaritan Congenital Myopathy
Fasciculations, Lethargy ORPHA:324581
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Spasticity, Unsteady gait, Lethargy OMIM:603896
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Ataxia, ... OMIM:220111
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Dihydropyrimidinase Deficiency
Abnormal pyramidal sign, Excessive daytime somnolence, Extrapyramidal dyskinesia, Lethargy OMIM:222748
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Fasting hypoglycemia, Coma, Hepatomegaly, Lethargy, Hypoketotic hypoglycemia, El... ORPHA:159
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Unsteady gait, Spasticity, A... OMIM:617435
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Let... OMIM:608643
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Parkinsonism with ... ORPHA:53351
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Portal hypertension, Cirrhosis, Cholangiocarcinoma, Splenomegaly, Hepatomegaly, Let... ORPHA:465508
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic gait, Hepatic failure, Coma, Confusion, Decreased liver function... ORPHA:415
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Fasting hypoglycemia, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis,... OMIM:261680
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dystonia, Gait ataxia, To... ORPHA:71517
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:95717
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Ataxia, Lethargy, Tremor OMIM:201100
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Hypoglycemia, Periportal fibrosis, Splen... OMIM:251880
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Pan... OMIM:618805
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea OMIM:606438
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Lethargy, Spasticit... OMIM:301790
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Coma, Hepatomegaly, Lethargy OMIM:251000
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Generalized dystonia, Inability to walk, Decreased liver function, Ataxia, Spa... ORPHA:70472
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Difficulty walking, Tremor ORPHA:306669
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Hyperlipidemia, Diabetes mellitus, Insulin resistance OMIM:615980
Susac Syndrome
Gait ataxia, Upper motor neuron dysfunction, Confusion, Lethargy ORPHA:838
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Spastic tetraparesis, Ataxia, Lethargy OMIM:615838
Citrullinemia, Classic
Coma, Hepatomegaly, Ataxia, Lethargy, Cirrhosis OMIM:215700
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Reduced consciousne... ORPHA:348
Scrub Typhus
Reduced consciousness/confusion, Splenomegaly, Tremor, Lethargy ORPHA:83317
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Titubation, Intention tremor, Fasciculations,... ORPHA:397946
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Cyclic Vomiting Syndrome
Ataxia, Lethargy OMIM:500007
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Tremor OMIM:614947
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertrigly... ORPHA:435651
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Lethargy ORPHA:49827
Methylmalonic Aciduria, Cbla Type
Coma, Hepatomegaly, Tremor, Lethargy OMIM:251100
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Drowsiness, Excessive daytime somnolence, Loss of consciousness, Lethar... ORPHA:2169
Myopathy, Spheroid Body
Waddling gait, Broad-based gait, Tremor OMIM:182920
Multiple Carboxylase Deficiency
Spastic paraparesis, Coma, Ataxia, Lethargy ORPHA:148
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:232400
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Tongue fasciculations, Gait disturbance, Tremor ORPHA:276435
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Oculomotor apraxia, Ataxia, Gait disturbance, Gait ... OMIM:617145
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice,... OMIM:231100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Insulin resistance, Hepatomegaly, Diabetes mellitus, Elevated hepatic transami... OMIM:615381
X-Linked Charcot-Marie-Tooth Disease Type 5
Excessive daytime somnolence, Ataxia, Paraparesis, Gait disturbance, Tremor ORPHA:99014
Evans Syndrome
Jaundice, Lethargy ORPHA:1959
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tremor OMIM:619028
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Portal fibrosis, Elevated hepatic trans... OMIM:614300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h... OMIM:231530
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Lethargy, Hypoketotic... OMIM:609015
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor ORPHA:329284
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... OMIM:606693
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Scissor gait, Spasticity, B... ORPHA:363654
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Myoclonus, Tremor OMIM:614018
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Lethargy OMIM:611590
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Dystonia, Opisthotonus, Generalized dystonia, Oromandibular dystonia,... OMIM:617013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Nonke... OMIM:608836
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Inability to wa... OMIM:618877
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Dengue Fever
Ascites, Hepatomegaly, Lethargy ORPHA:99828
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Episodic ataxia, Coma, Ataxia, Lethargy OMIM:311250
Hereditary Fructose Intolerance
Coma, Hepatomegaly, Jaundice, Lethargy, Reactive hypoglycemia, Chronic hepatic failure ORPHA:469
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Steppage gait, Gait ataxia, Tremor OMIM:618387
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Inability... ORPHA:3095
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Pyruvate Carboxylase Deficiency
Hypoglycemia, Clonus, Hepatomegaly OMIM:266150
Ddost-Cdg
Oromotor apraxia, Hepatic steatosis, Elevated hepatic transaminase, Tremor ORPHA:300536
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Inability to walk, Limb myoclonus, Difficulty walking, Clumsine... ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Drowsiness, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity,... ORPHA:70594
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resistant diabetes m... ORPHA:435660
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormal glucose homeostasis, Limb fasciculations, Tremor ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Unsteady gait, Spasticity, Chorea, Clumsiness, Poo... ORPHA:79263
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:370
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hepatic steatosis, Opisthotonus, Choreoathetosis, Neonatal hypoglycemia,... ORPHA:445038
Peroxisome Biogenesis Disorder 5B
Dysmetria, Decreased liver function, Ataxia, Unsteady gait, Oculomotor apraxia, Tremor OMIM:614867
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Lethargy, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Increa... ORPHA:26793
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Inability to walk, Gait disturbance, Difficulty walking, Tremor ORPHA:101077
Autosomal Dominant Progressive External Ophthalmoplegia
Hypertonia, Abnormality of the liver, Frequent falls, Resting tremor, Left ventricular hypertroph... ORPHA:254892
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Ataxia, Lethargy OMIM:237300
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... ORPHA:79083
Argininosuccinic Aciduria
Elevated circulating aspartate aminotransferase concentration, Coma, Hepatomegaly, Ataxia, Lethar... OMIM:207900
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Dysdiadochokinesis, Hypertonia, Ataxia, Diabetes me... ORPHA:96
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Lethargy OMIM:615751
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Splenome... ORPHA:567983
Glut1 Deficiency Syndrome 2
Choreoathetosis, Dystonia, Ataxia, Tremor OMIM:612126
Congenital Generalized Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Diab... ORPHA:528
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Coma, Hepatomegaly, Jaundice, Lethargy, Elevated hep... OMIM:229600
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Shuffling gait, Parkinsonism, Apraxia, Choreoathetosis, S... OMIM:300055
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Difficulty walking, Myoclonus, Tremor OMIM:159950
Necrotizing Enterocolitis
Peritonitis, Lethargy, Ascites, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Neuronal Intranuclear Inclusion Disease
Ataxia, Loss of consciousness, Rigidity, Gait disturbance, Tremor OMIM:603472
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Isolated Complex I Deficiency
Hypoglycemia, Hepatomegaly, Ataxia, Lethargy, Diabetes mellitus ORPHA:2609
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Dystonia, Inability to walk, Athetosis, Ataxia, Hepatomegaly, Tremor, Speech a... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Microvesicular hepatic steatosis, Dystonia, Opisthotonus, Chorea, Myoclonus OMIM:616672
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Hypoglycemia, Coma, Lethargy OMIM:210210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Spastic tetraparesis, Abnormal pyramidal sign, Excessive daytime somnolence, Decrease... ORPHA:436271
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Steppage gait, Spasticity, Babinski sign, Hypertonia OMIM:609260
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Intention tremor, Ataxia, Lethargy... ORPHA:616
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Myoclonus, Tremor ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Dysdiadochokinesis, T... OMIM:614831
Methylmalonic Aciduria, Cblb Type
Coma, Hepatomegaly, Lethargy OMIM:251110
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Type II diabetes mellitus, P... ORPHA:90970
Holocarboxylase Synthetase Deficiency
Coma, Ataxia, Lethargy ORPHA:79242
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Dystonia, Ataxia, Lethargy OMIM:618321
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ataxia, Ascites, Tremor ORPHA:87876
Kufor-Rakeb Syndrome
Abnormal pyramidal sign, Parkinsonism, Lingual dystonia, Oculogyric crisis, Blepharospasm, Bradyk... ORPHA:306674
Myxedema
Lethargy OMIM:255900
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Hypertrigly... ORPHA:2348
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Ataxia, Lethargy OMIM:253260
Parkinson Disease 21
Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:616361
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Jaundice, Hepatic periportal necrosis,... OMIM:231680
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Pseudo-Torch Syndrome 2
Ascites, Elevated hepatic transaminase, Hepatomegaly, Lethargy OMIM:617397
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Lethargy ORPHA:95716
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia OMIM:619013
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Dysmetria, Frequent falls, Hand tremor, Tip-toe gait, Paraparesis, Gait disturban... OMIM:302800
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:614582
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic tran... ORPHA:228305
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Splenomegaly, Hepatomegaly, Ataxia, Clonus, Elevated h... OMIM:615673
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Fasciculations, Bradykinesia, Oculomotor apraxia, Progres... OMIM:183090
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Dysdiadochokinesis, Shuffling gait, Oculogyric crisis... ORPHA:352649
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Confusion, Progressive cerebellar atax... ORPHA:282166
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Broad-based gait, Tremor OMIM:619470
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Titubation, Reduced consciousness/confusion, Bradykinesia... ORPHA:225147
Ataxia-Telangiectasia
Ataxia, Spasticity, Elevated hepatic transaminase, Diabetes mellitus, Gait disturbance, Type II d... ORPHA:100
Ogden Syndrome
Shuffling gait, Excessive daytime somnolence, Lethargy, Torticollis, Hypertonia ORPHA:276432
Aceruloplasminemia
Parkinsonism, Dystonia, Blepharospasm, Abnormal pancreas morphology, Involuntary movements, Ataxi... ORPHA:48818
Spontaneous Periodic Hypothermia
Reduced consciousness/confusion, Tremor, Ataxia, Gait disturbance ORPHA:29822
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Inability to walk, Difficulty walking, Tremor ORPHA:330050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Hypercholesterolemia, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal... OMIM:208920
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Insuli... ORPHA:79086
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Repetitive compulsive behavior, Action tremor, Dystonia, Neonat... ORPHA:66634
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Cholestasis OMIM:201400
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Inability to walk, Gait ataxia, Spasticity, Tremor OMIM:617810
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Upper motor neuron dysfunction, Hepatic steatosis, Waddling gait, Fasciculations ORPHA:52430
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Dysmetria, Hepatomegaly, Ataxia, Diabetes mellitus, Pancreatic fibrosis, Hepat... OMIM:616263
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:614251
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Speech ap... ORPHA:79237
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Portal hypertension, Dysdiadochokinesis, Action tremor, Dystonia, Spast... ORPHA:309854
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Macronodular cirrhosis, Hepatomegaly, Letharg... OMIM:557000
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Ataxia, Elevated hepatic transaminase, Hypertriglyceridemia, Mic... ORPHA:98907
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Shuffling gait, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Tremor, Unsteady gait, Progressive cerebellar ataxia, Upper motor neuron dysfunction,... ORPHA:137898
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Spasticity, Elevated hepatic... ORPHA:541423
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Dystonia, Lethargy OMIM:277410
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Spastic tetrapare... OMIM:619487
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic liver di... ORPHA:79095
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Excessive daytime somnolence, Coma, Hepatomegaly, Spasticity, Myoclonus OMIM:246450
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal mot... ORPHA:98773
Encephalitis Lethargica
Parkinsonism, Coma, Tremor, Lethargy ORPHA:83600
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Paralysis, Bile duct proliferation, Ataxia, He... OMIM:203700
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Babinski sign, Difficulty walking, Broad-based gait, Tremor ORPHA:477673
Glutaric Acidemia I
Hypoglycemia, Opisthotonus, Dystonia, Choreoathetosis, Hepatomegaly, Rigidity, Spastic diplegia OMIM:231670
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Lethargy ORPHA:99832
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Hypoglycemia, Splenomegaly, Coma, Ataxia, Lethargy, Hepatomegaly, Tongue fascicu... OMIM:252010
Holocarboxylase Synthetase Deficiency
Hypertonia, Coma, Lethargy OMIM:253270
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Diabetes ... ORPHA:412
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Decreased circulating cortisol level, Lethargy, Hepatitis, Type I diabetes mellitus ORPHA:199299
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Nonprogressive cerebellar ataxia OMIM:610198
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Tremor, Dysdiadochokinesis OMIM:610185
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hyperlipidemia, Recurrent pancreatitis, Hepatosplenomegaly... ORPHA:444490
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Dystonia, Hepatomegaly, Ataxia, Spasticity, Chorea OMIM:619273
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase ... OMIM:617253
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Wilson Disease
Glycosuria, Hepatic failure, Dystonia, Coma, Hepatomegaly, Atypical or prolonged hepatitis, Poor ... OMIM:277900
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Parkinson Disease 20, Early-Onset
Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Eyelid apraxia, Tremor OMIM:615530
Meningococcal Meningitis
Reduced consciousness/confusion, Drowsiness, Lethargy ORPHA:33475
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Ataxia, Spasticity, Elevated hepatic transam... ORPHA:79322
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Hypoglyce... OMIM:619418
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insu... OMIM:151660
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Chr... OMIM:614921
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper motor... ORPHA:206443
Cln5 Disease
Dysmetria, Inability to walk, Poor gross motor coordination, Ataxia, Unsteady gait, Spasticity, D... ORPHA:228360
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Staphylococcal Necrotizing Pneumonia
Confusion, Diabetes mellitus, Lethargy ORPHA:36238
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Lower limb spasticity, Ataxia, Lethargy, Upper motor neuron dysfunction, Hem... ORPHA:395
Histiocytoid Cardiomyopathy
Hypoglycemia, Drowsiness, Hepatomegaly, Loss of consciousness, Lethargy, Hemiplegia, Cardiomegaly ORPHA:137675
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Lower limb spasticity, Broad-based gait, Tremor ORPHA:3077
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Tremor, Tetraplegia, Spasticity, Gait disturbance, Babinski sign, Pseudobulba... OMIM:616586
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Tremor, Type I diabetes mellitus, Gait disturbance ORPHA:1192
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Spasticity, Tremor OMIM:617988
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Lethargy ORPHA:319218
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Inabi... OMIM:312080
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Waisman Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Cogwheel rigidity OMIM:311510
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Bradykinesia, Ataxia, Poor fine motor coordination, Tremor ORPHA:36387
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:613327
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Fasciculations, Hepatomegaly, Chronic pancreatitis, Elevated he... ORPHA:98908
Mohr-Tranebjaerg Syndrome
Ankle clonus, Abnormal pyramidal sign, Dystonia, Shuffling gait, Focal dystonia, Generalized dyst... ORPHA:52368
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Lethargy ORPHA:79284
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Coma, Hepatomegaly, Hypoketotic hypoglycemia,... ORPHA:228308
Serotonin Syndrome
Hypertonia, Hepatic failure, Coma, Confusion, Rigidity, Decreased vigilance, Clonus, Delirium, My... ORPHA:43116
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Dystonia, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:168600
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... OMIM:607060
Beta-Ketothiolase Deficiency
Extrapyramidal dyskinesia, Hypoglycemia, Reduced consciousness/confusion, Excessive daytime somno... ORPHA:134
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:226316
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Lethargy, Abnormality of extrapyramidal motor function, Delirium, Tremor OMIM:277400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia OMIM:619092
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Ataxia, Recurrent hand flapping, Gait disturbance, Tremor ORPHA:544254
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Splenomegaly, Jaundice, Elevated hep... ORPHA:2137
Perry Syndrome
Parkinsonism, Short stepped shuffling gait, Dystonia, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:168605
Congenital Disorder Of Glycosylation, Type Ie
Splenomegaly, Hepatomegaly, Ataxia, Elevated hepatic transaminase, Tremor OMIM:608799
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Hypercholesterolemia, Clumsiness, Lethargy ORPHA:90674
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Intention tremor, Ataxia, Steppage gait, Gait ataxia, Babinski sign, Myocl... OMIM:616505
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Alstrom Syndrome
Hepatic steatosis, Hyperinsulinemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Elevated ... OMIM:203800
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Trichinellosis
Reduced consciousness/confusion, Excessive daytime somnolence, Confusion, Lethargy, Hemiplegia, H... ORPHA:863
Abetalipoproteinemia
Hepatic steatosis, Dysmetria, Ataxia, Steppage gait, Hepatomegaly, Gait ataxia, Upper motor neuro... ORPHA:14
Nipah Virus Disease