Gene: Lipi MGI:2443868

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

lipase, member I

Synonyms:

D930038D03Rik, lpd1

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 Lipi 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.

Human diseases associated with Lipi (0 diseases)
Human diseases predicted to be associated with Lipi (546 diseases)

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

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

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid...	OMIM:232700
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hypertriglyceridemi...	OMIM:615924
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Morbid Obesity And Spermatogenic Failure	Obesity, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hyperc...	OMIM:615703
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Hepatic steatosis, Myoc...	ORPHA:363400
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Gait di...	OMIM:618400
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ...	OMIM:616053
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss...	OMIM:616516
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati...	ORPHA:309169
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hypocalcemia, Hypercholesterolemi...	OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:620357
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Neonatal death, Hyperprolinemia, Hyperalaninemia, Limb hypertonia	OMIM:615918
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:615048
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea, Abnormal cir...	ORPHA:369840
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Hypertoni...	ORPHA:26792
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Obesity And Hypopigmentation	Red hair, Obesity, Hepatic steatosis	OMIM:620195
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD...	OMIM:278000
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia	OMIM:264070
Spinocerebellar Ataxia Type 37	Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Failure to thrive, Decreased liver function, Generalized dystonia, Inability to walk,...	ORPHA:70472
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ...	ORPHA:521406
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Clumsiness...	OMIM:277460
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:613280
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis,...	OMIM:618805
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Tremor, Biliary tract abnormality, Prolong...	ORPHA:79234
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles...	OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia	ORPHA:71529
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower...	ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm...	OMIM:619048
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Hypobetalipoproteinemia, Familial, 1	Ataxia, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase ...	OMIM:615558
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato...	OMIM:617872
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Hypertriglyceridemia	OMIM:608898
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Limb ataxia, Gait ataxi...	OMIM:616719
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Hypertriglyceridemia 1	Increased VLDL cholesterol concentration, Hypertriglyceridemia	OMIM:145750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast...	ORPHA:314978
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Abnormality of the liver, Increased...	OMIM:614307
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Dystonia, Babinski sign, Hypertonia, Hep...	OMIM:264470
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increas...	OMIM:267700
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Abnormal circulating lipid concentration, Hirsutism	OMIM:608709
Migraine, Familial Hemiplegic, 1	Ataxia, Hemiplegia, Tremor, Hemiparesis	OMIM:141500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k...	ORPHA:276435
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o...	OMIM:614018
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem...	OMIM:300423
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Congenital Generalized Lipodystrophy	Failure to thrive, Hypertrichosis, Hepatic steatosis, Low anterior hairline, Low posterior hairli...	ORPHA:528
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Hyperlipidemia, Gait disturbance, Tetraplegia, Mildly elevated creat...	OMIM:604484
Wilson Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa...	ORPHA:905
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Failure to thrive, Tremor	OMIM:619651
Griscelli Syndrome Type 1	White hair, Premature graying of hair, Hyperlipidemia, Hypertonia, Ataxia	ORPHA:79476
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis...	ORPHA:98907
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circulating very ...	OMIM:617916
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperuricemia, Hirsutism, Cirrhosis, ...	OMIM:604367
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio...	ORPHA:210128
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hirsutism, Ataxia, Truncal at...	OMIM:610185
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Tr...	ORPHA:300536
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Un...	OMIM:614867
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Tremor, Ataxia	OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Steppage gait...	OMIM:618387
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Hepatic steatosis, Ataxia	OMIM:275630
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Tangier Disease	Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Elevated circulating apoli...	OMIM:205400
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis...	OMIM:619386
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di...	OMIM:617145
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Body Mass Index Quantitative Trait Locus 19	Obesity, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Neuroectodermal Melanolysosomal Disease	Spasticity, Premature graying of hair, Tremor, Rigidity, Hypertonia, Ataxia, Hypopigmentation of ...	ORPHA:33445
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thri...	OMIM:603553
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ...	OMIM:612736
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata...	OMIM:261640
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Fasciculations, Difficulty walking, Chro...	OMIM:610717
Acquired Partial Lipodystrophy	Generalized hirsutism, Hepatic steatosis	ORPHA:79087
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc...	ORPHA:2590
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Hepatic steatosis	OMIM:615119
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance	OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait	OMIM:213200
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Myoclonus, Gait ataxia, Dysmetria, Tremor, Hyperalaninemia, Dystonia, Dysd...	ORPHA:254881
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Speech apraxia, Chor...	OMIM:615356
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Temple Syndrome	Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Overweight, Small for gesta...	OMIM:616222
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate...	OMIM:606069
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Loss of ambulation, Hepatomegaly, Dystonia	OMIM:615010
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Spasticity, Failure to thrive, Decre...	OMIM:617093
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin...	ORPHA:99750
Glut1 Deficiency Syndrome 2	Splenomegaly, Tremor, Reduced haptoglobin level, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c...	OMIM:208920
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand...	ORPHA:53351
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia	OMIM:619028
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Saccharopinuria	Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnormal circulating enzyme...	ORPHA:3124
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL cholesterol concentr...	ORPHA:412
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating aspartate ...	OMIM:212140
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Small nail, Tremor, Broad-based gait	OMIM:619470
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol...	OMIM:618620
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kin...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kin...	ORPHA:98853
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Elevated circulating creatine kinase concentration, Dysmetria, Ataxia, Unsteady gait, Inc...	OMIM:619405
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ...	OMIM:610198
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Generalized hirsutism, Pancreatitis, Hypertriglyceridemia, Hepat...	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Hyperuricemia, Generalized hirsutism, Cirrhosis, Pancreatitis, H...	ORPHA:79083
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Tremor, Ataxia	ORPHA:101075
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:240085
Coenzyme Q10 Deficiency, Primary, 4	Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnormal pyramidal sign, I...	OMIM:612016
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At...	ORPHA:79263
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kin...	ORPHA:98855
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Tetraparesis, Chorea, Myoclonus, Hyperammonemia, Microvesicular hepatic steato...	OMIM:616672
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Dpm1-Cdg	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Failure to...	ORPHA:79322
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki...	OMIM:614831
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Gait imbalance, Elevated circulating creatine kina...	ORPHA:64753
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ...	ORPHA:209335
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Ataxia-Telangiectasia	Spasticity, Elevated circulating hepatic transaminase concentration, Failure to thrive, Premature...	ORPHA:100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ...	OMIM:619911
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas...	OMIM:159950
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Tremor, Ataxia	ORPHA:101078
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Fasciculations, Difficulty walking, Abno...	ORPHA:98908
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Abnormal pancreas...	ORPHA:48818
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Broad-based gait, Failure to thrive, Micronodular cirrhosis, Hepatocellular necr...	OMIM:256810
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P...	OMIM:606693
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Smith-Magenis Syndrome	Increased body weight, Synophrys, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff...	OMIM:615673
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fasciculations, Hepatic steatosis, Elevated circulating creatine kinase concentration, Upper moto...	ORPHA:52430
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,...	OMIM:618877
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre...	OMIM:210000
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Babinski sign, ...	OMIM:302800
Griscelli Syndrome Type 2	Premature graying of hair, Hyperlipidemia, Splenomegaly, Hypertonia, Hepatomegaly, Jaundice, Hypo...	ORPHA:79477
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly, Hypotri...	ORPHA:14
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc...	ORPHA:435660
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, ...	ORPHA:309854
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait	OMIM:616795
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Obesity, Tremor, Dystoni...	OMIM:300055
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis	OMIM:615996
3-Methylglutaconic Aciduria Type 7	Spasticity, Elevated circulating hepatic transaminase concentration, Myoclonus, Hepatic steatosis...	ORPHA:445038
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t...	ORPHA:3095
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hepatic steatosis, Generalized hirsutism, Cirrhosis, Hy...	ORPHA:79086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Obesity, Tremor, Parkinsonism, Lower limb spast...	ORPHA:3077
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma...	ORPHA:70594
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Hepatic...	OMIM:613327
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Gait disturbance, Hypercholesterolemia, Hypertriglyceridem...	ORPHA:819
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentr...	OMIM:619487
Jaberi-Elahi Syndrome	Sparse eyebrow, Broad-based gait, Failure to thrive, Fine hair, Inability to walk, Gait ataxia, D...	OMIM:617988
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated...	ORPHA:79240
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai...	OMIM:617435
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Microtriplication 11Q24.1	Speech apraxia, Obesity, Long eyelashes, Hyperlipidemia, Thick eyebrow, Hyperkinetic movements, S...	ORPHA:289522
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase con...	OMIM:614924
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Hyperalaninemia, Dystonia, Increased serum pyruvate, Small fo...	OMIM:312170
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Opisthotonus, Acute hepatic steatosis, Failure to thrive	OMIM:210200
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Decreased liver function, Myoclonus, Hepatic steatosis, Neonatal death, St...	OMIM:614922
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert...	ORPHA:137898
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,...	OMIM:312080
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in...	OMIM:619418
Mandibuloacral Dysplasia	Alopecia, Increased circulating free fatty acid level, Hypoplastic fingernail, Hypercholesterolem...	ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ...	OMIM:615595
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Decreased serum creatinine	OMIM:617744
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Failure to thrive, Difficulty walking, Abnormality of coordina...	ORPHA:442835
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Myoclonus, Hepatic steatosis, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, D...	OMIM:616271
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity...	OMIM:615812
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia, Brit...	OMIM:236200
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Weight loss, Apr...	OMIM:137440
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
X-Linked Charcot-Marie-Tooth Disease Type 5	Paraparesis, Gait disturbance, Tremor, Ataxia	ORPHA:99014
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Premature graying of hair	ORPHA:66633
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Failure to thrive, Decreased liver function, Abnormal pyramidal sign, Gait disturbance, Ataxia, H...	ORPHA:436271
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steat...	ORPHA:189427
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ...	ORPHA:650
Chédiak-Higashi Syndrome	Ataxia, Spastic paraplegia, Elevated circulating hepatic transaminase concentration, Decreased li...	ORPHA:167
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Reni Syndrome	Ataxia, Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia	OMIM:607694
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, Loss of ambulation...	ORPHA:206443
19P13.12 Microdeletion Syndrome	Obesity, Hyperlipidemia, Hepatic steatosis, Generalized hirsutism, Synophrys	ORPHA:254346
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas...	OMIM:300957
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Hypera...	ORPHA:298
Perry Syndrome	Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss...	OMIM:168605
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic...	OMIM:128100
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Alopecia of scalp, Elevated circul...	OMIM:277700
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive	ORPHA:977
Cimdag Syndrome	Cholelithiasis, Spasticity, Chorea, Microvesicular hepatic steatosis, Ataxia, Hepatomegaly, Dystonia	OMIM:619273
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Hyperphenylalaninemia, Dystonia, Chore...	OMIM:233910
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatic steatosis, Hirsutism, Hypercholesterolemia, Hype...	OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatos...	ORPHA:280365
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Babinski sign, Chronic hep...	ORPHA:746
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Alopecia of scalp, Splenomegaly, Tremor, Decreased serum zinc, Ataxia, Hepatom...	OMIM:201100
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Absent eyelashes, Abnormal intrahepatic bile duc...	ORPHA:363618
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi...	OMIM:615530
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte...	OMIM:616505
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho...	OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Hypertr...	OMIM:617591
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Gait ataxia, Increased hepatic glycogen content, Babinski sign, Clumsiness, Gait dis...	OMIM:619259
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Elevated circulating hepatic transaminase concentration, Broad-based gait, Hepatic stea...	ORPHA:2959
Alstrom Syndrome	Alopecia, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol conc...	OMIM:203800
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Mohr-Tranebjaerg Syndrome	Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr...	ORPHA:52368
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Spast...	ORPHA:541423
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet...	OMIM:616263
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	OMIM:608836
Obesity Due To Congenital Leptin Deficiency	Obesity, Hypertriglyceridemia	ORPHA:66628
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Spasticity, Failure...	OMIM:124000
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Coarse hair, Inability to walk, Long eyelashes, Splenomegaly, Low anterior hairl...	OMIM:617303
Obesity Due To Leptin Receptor Gene Deficiency	Obesity, Hypertriglyceridemia	ORPHA:179494
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Elevated ...	OMIM:614298
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Failure to thrive	ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Spasticity, Elevated circulating hepatic transaminase concentration, Failure to ...	OMIM:618329
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia	ORPHA:529665
Lipodystrophy, Familial Partial, Type 7	Dysdiadochokinesis, Failure to thrive, Gait ataxia, Dysmetria, Babinski sign, Recurrent pancreati...	OMIM:606721
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid con...	ORPHA:77293
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Elevated circulating hepatic transaminase concentration, Spastic hemiparesis, Myoclon...	ORPHA:20
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Failure to thrive, Myoclonus, Hepatic st...	ORPHA:17
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hepatic steatosis, Eleva...	OMIM:212138
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Nail dystrophy, Hypercholesterolemia, Small nail, Hypertriglyceridemia	OMIM:610644
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Elevated circulating creat...	OMIM:617675
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity...	OMIM:176270
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepat...	ORPHA:79259
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fa...	ORPHA:845
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:300894
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:228308
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate...	ORPHA:263455
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Classic Phenylketonuria	Hemiplegia, Paraplegia, Tremor, Hyperphenylalaninemia, Hypertonia, Hypopigmentation of hair	ORPHA:79254
Immunodeficiency 97 With Autoinflammation	Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Aromatase Deficiency	Obesity, Hyperlipidemia, Eunuchoid habitus, Hepatic steatosis, Generalized hirsutism	ORPHA:91
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hemiplegia/hemiparesis,...	ORPHA:156
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr...	OMIM:203700
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Tremo...	ORPHA:69665
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:348
H Syndrome	Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Hepatosplenomegaly, Hypertriglyceridemia	ORPHA:168569
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:313200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Increased intramyocellular lipid droplets, Ataxia, H...	OMIM:220110
Xp21 Deletion Syndrome	Spasticity, Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail, Microvesicular hepatic steatosis	OMIM:620601
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Hirsuti...	OMIM:608594
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss, Periodic paralysis, Tremor	OMIM:613239
Monosomy 13Q34	Obesity, Hypercalcemia, Horizontal eyebrow, Hepatic steatosis	ORPHA:96168
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir...	OMIM:612716
Gaisböck Syndrome	Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem...	ORPHA:90041
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Hirsuti...	OMIM:269700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Progr...	OMIM:619475
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Sézary Syndrome	Alopecia, Nail dystrophy, Splenomegaly, Tremor, Hepatomegaly	ORPHA:3162
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Mildly elevated creatine kinase, Difficulty walking, Dysmetria, Tremor, Increased intramyocellula...	ORPHA:502423
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa...	OMIM:261515
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of a...	OMIM:607426
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Aicardi-Goutieres Syndrome 7	Hepatitis, Tetraparesis, Increased circulating ferritin concentration, Splenomegaly, Hepatic stea...	OMIM:615846
Joubert Syndrome With Hepatic Defect	Highly arched eyebrow, Elevated circulating hepatic transaminase concentration, Portal hypertensi...	ORPHA:1454
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin...	ORPHA:699
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem...	ORPHA:99027
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Failure to thrive, Premature graying of hair, Abnormal hair morpho...	ORPHA:79474
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Hyperlysinemia	Poor motor coordination, Hypoornithinemia, Failure to thrive, Tip-toe gait, Thin eyebrow, Hyperam...	ORPHA:2203
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Small for gestational age, Hypoproteinemia	OMIM:256300
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Tip-toe gait, Hyperammonemia, Tremor, Hyperglutam...	ORPHA:3008
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ...	ORPHA:1578
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperbilirubinemia, H...	OMIM:229600
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:118450
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Nail dystrophy, Hypertri...	OMIM:619127
Ataxia-Telangiectasia	Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Failure to thrive, Abno...	OMIM:208900
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Hypertriglyceridemia	ORPHA:31150
Triosephosphate Isomerase Deficiency	Cholelithiasis, Spasticity, Failure to thrive, Cholecystitis, Splenomegaly, Tremor, Unsteady gait...	OMIM:615512
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Myoclonus, Microvesicular hepatic...	OMIM:618278
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ...	OMIM:611126
Metachromatic Leukodystrophy	Progressive spasticity, Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturba...	ORPHA:512
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:613658
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici...	OMIM:619991
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Failure to thrive, Tetraparesis, Splenomegaly, Tremor, Ataxia, Increased circulatin...	OMIM:613179
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis, Small for gestational age, Hypertrichosis	OMIM:210900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Failure to thrive, Hyperammonemia, Tremor, Neonatal death, Hyperalanin...	OMIM:614052
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Spasticity, Failure to thrive, Hyperammonemia, Dysmetria, Microvesicular h...	OMIM:220111
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Premature graying of ...	OMIM:256040
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Small for gestational age, Alopecia, Failure to thrive, Small nail, Alopecia of s...	OMIM:264090
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Abnormal circulating crea...	ORPHA:199351
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Wiedemann-Rautenstrauch Syndrome	Ataxia, Aplasia/Hypoplasia of the nails, Spasticity, Failure to thrive, Slender build, Hepatic st...	ORPHA:3455
Bardet-Biedl Syndrome	Ataxia, Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Me...	ORPHA:110
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Hypertriglyceridemia	ORPHA:536532
Glycerol Kinase Deficiency	Hyperglycerolemia, Chronic pancreatitis, Small for gestational age, Hypertriglyceridemia	OMIM:307030
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Hyperlipidemia, Abnormality of extrapyramidal motor function, Dystonia, Spar...	OMIM:241080
Niemann-Pick Disease Type C	Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi...	ORPHA:646
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Hyperglycinemia, Hyperammonemia, Tremor, Hepatomegaly, Methylmalonic acidemia	OMIM:251100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Fine hair, Premature graying of hair, Hemiplegia, Nail dystrophy, Tremor, Abnormality...	OMIM:612199
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Exocrine pancreatic insufficiency, Tremor, Babinski sign, Cirrhosi...	OMIM:616539
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:157
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abn...	OMIM:234200
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly	OMIM:243910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Spasticity, Small nail, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, L...	OMIM:300868
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Hemiplegia, Hyperlipidemia, Hemiparesis, Pancreatitis, Small for gestational age	ORPHA:1830
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Hyperlipidemia, Brittle hair	OMIM:608612
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Azotemia, Hepatic steatosis, Abdominal obesity	OMIM:619321
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Obesity, Tremor, Respiratory ...	ORPHA:79102
Methanol Poisoning	Hyperlipidemia	ORPHA:31825

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us