Gene Summary

Name:
neurotrophin 5
Synonyms:
NT4/5,  2900040K06Rik,  NT-4,  neurotrophin-4,  NT4,  Ntf4,  Ntf-5

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged QT interval Ntf5tm1b(EUCOMM)Hmgu HOM   Early adult 9.13×10-05
increased circulating total protein level Ntf5tm1b(EUCOMM)Hmgu HOM   Early adult 9.98×10-05
abnormal locomotor behavior Ntf5tm1b(EUCOMM)Hmgu HOM   Early adult 6.72×10-07
decreased mean corpuscular volume Ntf5tm1b(EUCOMM)Hmgu HOM   Early adult 5.94×10-05
increased circulating cholesterol level Ntf5tm1b(EUCOMM)Hmgu HOM Early adult 2.11×10-06
persistence of hyaloid vascular system Ntf5tm1b(EUCOMM)Hmgu HOM   Early adult 9.27×10-05
prolonged QRS complex duration Ntf5tm1b(EUCOMM)Hmgu HOM Early adult 3.34×10-08
female infertility Ntf5tm1b(EUCOMM)Hmgu HOM Early adult 0.00
tremors Ntf5tm1b(EUCOMM)Hmgu HOM Early adult 7.40×10-07
increased circulating HDL cholesterol level Ntf5tm1b(EUCOMM)Hmgu HOM Early adult 8.15×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Ntf5 mutations

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

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

The table below shows human diseases associated to Ntf5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glaucoma 1, Open Angle, O
OMIM:613100

The table below shows human diseases predicted to be associated to Ntf5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Azoosper... OMIM:615703
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Incr... OMIM:601494
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany... ORPHA:94090
Gaisböck Syndrome
Hypertriglyceridemia, Myocardial infarction, Increased red blood cell count, Elevated plasma cell... ORPHA:90041
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Distal Myopathy, Tateyama Type
Clumsiness, Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Nor... OMIM:610198
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... ORPHA:101016
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Spastic dysarthria, Ataxia, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Elevated circulating creatine kinase concentra... ORPHA:64753
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:615048
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Arrhyt... OMIM:614860
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki... OMIM:208920
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Babinski sign, Hypertonia, Prolonged QT interval, Abnormality of extrapyramidal mo... ORPHA:480864
Scapuloperoneal Myopathy, X-Linked Dominant
Steppage gait, Right bundle branch block, Waddling gait, Elevated circulating creatine kinase con... OMIM:300695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertonia, Anemia, Hemophagocytos... OMIM:267700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypertonia, Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Elevated pulmonary artery pressure... ORPHA:57777
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Difficulty walking, Inability to walk, Right bundle branch... ORPHA:206559
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration OMIM:619040
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Prolonged QTc interval, Cardiac arrest, Elevated circulating creatine kinase conce... OMIM:616878
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Hypochromic microcytic anemia, Prolonged QT interval, Lower limb spasticity, Actio... ORPHA:66634
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Hyperphenylalaninemia, Tremor, Transient hyperphenylalaninemia OMIM:264070
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Difficulty walking, Broad-based gait, Right bundle branch block, Elevated circulat... OMIM:616479
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concent... OMIM:616267
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Gait disturbance, Mildly elevated creatine kinase, Lef... ORPHA:171445
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c... ORPHA:231111
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... OMIM:128230
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... OMIM:615924
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Ventricular arrhyth... ORPHA:36913
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Muscular Dystrophy, Becker Type
Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia OMIM:300376
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Andersen-Tawil Syndrome
Torsade de pointes, Periodic hyperkalemic paralysis, Prolonged QT interval, Polymorphic ventricul... ORPHA:37553
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoathetos... OMIM:612126
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concen... ORPHA:26793
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris OMIM:614025
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Hypogonadism, Ankl... OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Spasticity, Tremor, Intention tre... OMIM:614307
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce... OMIM:277460
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypertonia, Anemia, Hemophagocytosis, Pancytopenia, Tetraplegia, Hypoprotei... OMIM:603553
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor OMIM:165300
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Elevated cir... OMIM:181350
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration ORPHA:29073
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG OMIM:309930
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Hyperch... OMIM:612526
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating creatine k... ORPHA:276435
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cerebral Creatine Deficiency Syndrome 1
Hypertonia, Prolonged QT interval, Elevated circulating creatine concentration, Broad-based gait,... OMIM:300352
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Aceruloplasminemia
Chorea, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circulating iron concentrati... ORPHA:48818
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Loss of a... OMIM:614018
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Frequent falls, Dystonia, Myoclonus OMIM:619647
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Arrhythmia, Thrombocytopenia, Subconj... ORPHA:509
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Decreased circulating carnitine concentration, Abnormal circulating acylca... ORPHA:71212
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Transient hypophosphatemia, Prolonged QT interval, Respiratory paralysis... ORPHA:79102
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Elevated circulating creatine kinase concentration, Waddling gait, First degre... OMIM:310300
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H... ORPHA:86816
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany... ORPHA:94089
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Hyperphenylalaninemia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Spasticity, Gait apraxia, Gait ataxia, Dystonia, Abnormal... OMIM:312750
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... OMIM:617916
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, D... OMIM:618387
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Iron deficiency anemia, Hypoproteinemia, Budd-Chiari syndrome, Hypoal... OMIM:226300
Dengue Fever
Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Thrombocytopenia, Leukopenia, Epistaxi... ORPHA:99828
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, ... ORPHA:324588
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest, Tremor, Ataxia OMIM:618951
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting ... ORPHA:401768
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia OMIM:306000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Galactokinase Deficiency
Premature ovarian insufficiency, Increased level of galactitol in plasma, Hypergalactosemia, Hype... ORPHA:79237
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Urocanic Aciduria
Abnormal circulating histidine concentration, Broad-based gait, Truncal ataxia, Gait ataxia, Acti... ORPHA:210128
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Decreased serum creatinine, Progressive e... OMIM:612736
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Lower limb spasticity, Lower limb hypertonia, Progressive gait ata... ORPHA:1177
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal... OMIM:613280
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Spastic paraplegia, Ataxia,... ORPHA:167
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Congestive heart failure, Limb hypertonia, Resting tremor, Chorea, Involun... OMIM:606703
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin level, Hypomagnesemi... OMIM:263800
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypertension, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Dystonia, Myoclonus OMIM:619651
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... ORPHA:90044
Saccharopinuria
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,... ORPHA:3124
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulati... OMIM:613327
Cog4-Cdg
Limb hypertonia, Thrombocytopenia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia ORPHA:263501
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Delayed menarche... ORPHA:330050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Hyper... OMIM:617145
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Decreased fertility, ... OMIM:313200
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hypertrophic cardiomyopathy, Gait disturbance, Hemiplegia... ORPHA:96
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Hypocalcemia, Atrial fibrillation,... ORPHA:31826
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Choreoath... OMIM:606159
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Loss of ambulation, Elevated circulating creatine kinase concentration... ORPHA:254361
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... ORPHA:85451
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Periodic hypokalemi... OMIM:170390
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tremor, Elevat... ORPHA:90068
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Increased serum pyruvate, Titubation, Elevated circulating creatine kinase concentration,... OMIM:619405
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, O... ORPHA:102
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Nathalie Syndrome
Abnormal EKG OMIM:255990
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait a... ORPHA:254881
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Hypoproteinemia, Tremor OMIM:608093
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Loss of ambulation, Elevated circulating creatine kinase concent... OMIM:619518
Phenylketonuria
Hyperphenylalaninemia, Ataxia, Tremor, Lower limb spasticity ORPHA:716
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor fine motor coordination, Hypercholesterolemia ORPHA:254531
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Elevated circulating creatine kinase concentra... OMIM:159950
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, El... ORPHA:466650
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Scorpion Envenomation
Prominent U wave, Hypertension, Premature ventricular contraction, Ataxia, Myoclonus, T-wave inve... ORPHA:466677
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy, Oligomenorrhea, Incr... ORPHA:528
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, O... ORPHA:98933
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Rest... ORPHA:227510
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia OMIM:615010
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Chorea, Right bundle... ORPHA:268
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypertension, Myoclonic s... ORPHA:79443
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Supraventricular arrhythmia, Cra... ORPHA:420492
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Elevated circulating creatine kinase concentration, Waddl... ORPHA:209335
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Anemia, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated circula... OMIM:615895
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Gitelman Syndrome
Hypermagnesemia, Prolonged QT interval, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Promin... ORPHA:358
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Rigidity, Dystonia, Ata... OMIM:261640
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate, Gait disturbance, Abnormality of central motor co... ORPHA:94125
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Hypergo... ORPHA:79444
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Difficulty walking, Abnormality of extrapyramidal motor function, ... OMIM:615673
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Inability to walk, Tremor, Elevated circulating creatine kinase concentration ORPHA:90117
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Hypertension, Poor motor coordination, Limb dystonia, G... ORPHA:363400
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreo... ORPHA:391417
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli... ORPHA:567548
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Abnormal erythrocyte enzyme concentration or activity, Elevated cir... ORPHA:264580
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Lower limb spasticity, Optic nerve hypoplasia, Pulmonary arterial hyperten... OMIM:620029
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thromboc... OMIM:613839
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia... OMIM:615812
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gai... OMIM:210000
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Myotonic Dystrophy 2
Right bundle branch block, Oligozoospermia, Elevated circulating creatine kinase concentration, P... OMIM:602668
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kinase conc... OMIM:310200
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Ataxia, Unsteady ga... OMIM:614867
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural ... OMIM:607694
Dpagt1-Cdg
Optic atrophy, Hypertonia, Akinesia, Anemia, Prolonged QT interval, Inability to walk, Tremor, Di... ORPHA:86309
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Hypercholesterolemia, Aortic regurgitation ORPHA:401923
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Inability to walk, Spasticity, Right bundle branch block, Tricuspid regurgitation,... OMIM:619576
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Retinal detachment OMIM:182290
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolyti... ORPHA:713
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
4H Leukodystrophy
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper mo... ORPHA:289494
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscular volume, Hyperten... ORPHA:2169
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Syncope OMIM:603472
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Oligomenorrhea,... ORPHA:79240
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Pigmentary retinopathy OMIM:619473
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Tremor, Hypertension, Gait disturbance ORPHA:1192
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Portal hypertension, Elevated circulating alpha-fetoprot... OMIM:619662
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance, Arrhythmia ORPHA:29822
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Cerebral hemorrhage, Abnormal pyramidal sign ORPHA:542310
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Trun... ORPHA:137898
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffl... ORPHA:3077
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Laron Syndrome
Hypercholesterolemia ORPHA:633
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio... OMIM:614298
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Resting tremor, Tremor, Sh... OMIM:300055
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Chore... OMIM:233910
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Incoordination, Tremor, Frequent falls, Parapare... OMIM:302800
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi... ORPHA:3095
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Angina pectoris, Incr... ORPHA:412
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia, Splenomegaly OMIM:616719
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Gait disturbance, Retinal detachment ORPHA:819
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Poor fine motor coordination, Hypercholesterolemia ORPHA:96184
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Unsteady gait, Abnormal pyramidal sign OMIM:616795
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Ri... ORPHA:442835
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, First degree atrioventricular block, Poor fine motor coordination, Bundle branch ... ORPHA:589821
Tetanus
Hypertonia, Bradycardia, Tremor, Hypertension, Elevated circulating creatine kinase concentration... ORPHA:3299
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Dysdiadochokinesis, Tremor, E... OMIM:617675
Typhoid
Hypertonia, Gastrointestinal hemorrhage, Tremor, Cardiac arrest, Ataxia, Splenomegaly, Epistaxis,... ORPHA:99745
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Cardiomyopathy, Dystonia, Thromboc... OMIM:617710
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Pancytopenia, Right hemiplegia, Tremor, Elevated circulating creatine kinase concentratio... OMIM:607426
Neuhauser Syndrome
Retinal detachment, Hypercholesterolemia, Ataxia, Poor coordination OMIM:249310
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Elevated circulating C-reactive protein concentration, A... ORPHA:93672
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle... OMIM:610131
Friedreich Ataxia
Optic atrophy, Babinski sign, Limb ataxia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:229300
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Pelizaeus-Merzbacher Disease
Optic atrophy, Writer's cramp, Inability to walk, Broad-based gait, Tremor, Intention tremor, Spa... OMIM:312080
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Tremor, Cardiomyopathy, Sideroblastic anemia, Thrombocytopen... OMIM:222300
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Tremor, Gait ataxia, Intention tremor, A... OMIM:616505
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... ORPHA:94080
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Periodic paralysis, Tremor, Hypokalemia OMIM:613239
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Ap... ORPHA:52368
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Elevated circulating creatine kinase concentration, Hematochezia, Ataxia, Hypogonadism, P... ORPHA:79095
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism