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Gene: Ntf5 MGI:97381

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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

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Viewing: all phenotypes

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

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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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
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... ORPHA:90041
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... ORPHA:158048
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... ORPHA:309169
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations, Clumsiness ORPHA:488650
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Cryptorchidism... OMIM:610198
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... OMIM:614860
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
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
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... OMIM:208920
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Steppage gait, Elevated circulating creatine kinase concentration, Wad... OMIM:300695
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Inability to walk, Dilated cardiomyopathy, Ri... ORPHA:206559
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... OMIM:616267
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypertonia, Elevated circulating creatine kinase concentration OMIM:615351
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemi... ORPHA:94090
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop... ORPHA:398124
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Elevated circulating creatine kinase... ORPHA:480864
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Muscle Filaminopathy
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... ORPHA:171445
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Babinski si... OMIM:616479
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... OMIM:615924
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Ataxia, Bilateral cryptorchidism, Dilated cardiomyo... ORPHA:66634
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Hyperphosphate... ORPHA:36913
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Cardiac arrest, Clonus, Ele... OMIM:616878
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... OMIM:615768
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... OMIM:277460
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
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
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:181350
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls OMIM:619647
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocalcemia, Hyperch... OMIM:612526
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... OMIM:603553
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Elevated circulating creatine kinase concentration, Sudden cardiac death, First de... OMIM:310300
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Speech apraxia, Broad-based gait, Elevated circulating creatine concentrat... OMIM:300352
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,... OMIM:614307
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyper... ORPHA:79102
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Rett Syndrome
Dystonia, Gait apraxia, Gait ataxia, Truncal ataxia, Abnormal T-wave, Spasticity, Prolonged QTc i... OMIM:312750
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... OMIM:617916
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... OMIM:618387
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Familial Dyskinesia And Facial Myokymia
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... ORPHA:324588
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Glycogen Storage Disease Ixa1
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Urocanic Aciduria
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... ORPHA:210128
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... ORPHA:71212
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Hypoprotein... ORPHA:99828
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... ORPHA:90044
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Cardiac arrest OMIM:618951
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... ORPHA:263297
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis... OMIM:226300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Galactokinase Deficiency
Speech apraxia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomega... ORPHA:79237
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... OMIM:606703
Cholesteryl Ester Storage Disease
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Hypertrophic cardiomyopathy, Ataxia, Limb dystonia OMIM:620270
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia, Action tremor ORPHA:77296
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Myoclonus, Dystonia OMIM:619651
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... OMIM:313200
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... OMIM:606159
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Ventricular tachycardia, Hypokalemia, Increased circula... OMIM:263800
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia ORPHA:263501
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Gastrointestinal hemorrhage ORPHA:2494
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Cryptorchidism, Hypertonia, Hypoproteinemia OMIM:608093
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Cardiomyopathy, Difficulty walking, Dyston... ORPHA:401768
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... ORPHA:102
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Hypokalemia, Syncope... OMIM:170390
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Lower limb spasticity, Abnormal pyramidal sign, Cardiomyopathy, Progressive gait at... ORPHA:1177
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... OMIM:301310
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... ORPHA:48818
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Loss of ambulation, Frequent falls, Elevated circulating creatine kina... ORPHA:254361
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... OMIM:617013
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Thrombocytopenia OMIM:615010
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... OMIM:159950
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemi... ORPHA:94089
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor fine motor coordination, Hypercholesterolemia ORPHA:254531
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... ORPHA:98933
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... ORPHA:227510
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Elevated circulating creatine kinase concent... OMIM:619518
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... ORPHA:466650
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Amenorrhea, Oligomenorrhea, Hypercholesterolemia,... ORPHA:528
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... ORPHA:420492
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f... OMIM:278000
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Chorea, Righ... ORPHA:268
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Abnormal left ventricular function, Cardiomyopathy, Gait disturbance, Loss of ambula... ORPHA:98912
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche ORPHA:330050
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Pri... ORPHA:466677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Involuntary movements, Choreoa... ORPHA:79443
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Abnormality ... ORPHA:94125
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations, Elevated circulating creatine kinase concentration ORPHA:90117
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat... OMIM:615895
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... ORPHA:2590
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemi... ORPHA:79444
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Gitelman Syndrome
Prolonged QT interval, Paralysis, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-nor... ORPHA:358
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype... OMIM:261640
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... OMIM:612953
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax... ORPHA:363400
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... OMIM:613839
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... OMIM:233910
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Hypertension, Hypertonia, Gait disturbance, Anemia ORPHA:1192
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Temple Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypercholesterolemia, Decreased testicular size OMIM:616222
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... OMIM:614867
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Congestive heart f... ORPHA:3077
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Oligozoospermia, Right bundle br... OMIM:602668
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... OMIM:615673
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... ORPHA:713
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Syncope, Gait disturbance OMIM:603472
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Lower limb spasticity, Intention tremor OMIM:620029
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Lower limb... ORPHA:2169
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Spontaneous Periodic Hypothermia
Tremor, Arrhythmia, Ataxia, Gait disturbance ORPHA:29822
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Poor fine motor coordination, Cryptorchidism, Hypercholesterolemia ORPHA:96184
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... ORPHA:3095
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... OMIM:617435
Neuroferritinopathy
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Palatal tremor, Chorea, Babi... ORPHA:157846
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Cystathioninuria
Cystathioninemia, Tremor ORPHA:212
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... OMIM:302800
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Ataxia, Inability to walk, Dysmetria, Right bundle branch block, Mitral ... OMIM:619576
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait OMIM:616795
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystoni... OMIM:607694
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Akinesia, Tremor, Inability to walk, Intracranial hemorrhage, Hype... ORPHA:86309
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, ... ORPHA:3299
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... ORPHA:412
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Bundle branch block, Poor fine motor coordination, First degree atrioventricular ... ORPHA:589821
4H Leukodystrophy
Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokin... ORPHA:289494
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c... OMIM:613179
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor... ORPHA:137898
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Cryptorchidism, Hypoproteinemia, Hypocalcemia OMIM:235255
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration,... OMIM:607426
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Tachycardia, Periodic paralysis OMIM:613239
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Hypertonia,... ORPHA:99745
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev... ORPHA:93672
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric... OMIM:610131
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Bradycardia, Macroorchidism, Hypercholesterolemia, Abnormal circulating thyroglobulin... ORPHA:90674
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... OMIM:614298
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... ORPHA:94080