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Gene: Fcgr3 MGI:95500

Gene Summary

Name:

Fc receptor, IgG, low affinity III

Synonyms:

FcgammaRIII, Fcg receptor III, CD16

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating serum albumin level	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.20×10^-07
decreased circulating total protein level	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.08×10^-07
increased heart rate	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	1.39×10^-05
decreased circulating calcium level	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.11×10^-05
decreased circulating creatine kinase level	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	7.04×10^-11
increased anxiety-related response	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.78×10^-05
abnormal gait	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.40×10^-08
tremors	Fcgr3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.90×10^-09

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	100% (1 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	Not available
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

82 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Embryo LacZ

LacZ images wholemount

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

1 Images

View images

Human diseases caused by Fcgr3 mutations

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

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

Human diseases associated with Fcgr3 (4 diseases)
Human diseases predicted to be associated with Fcgr3 (1124 diseases)

The table below shows human diseases associated to Fcgr3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S...	ORPHA:536
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis	OMIM:219700

The table below shows human diseases predicted to be associated to Fcgr3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi...	ORPHA:309169
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Immune Thrombocytopenia	Platelet antibody positive, Thrombocytopenia	OMIM:188030
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration	OMIM:615883
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Hypoparathyroidism, Familial Isolated, 1	Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Atypical Pantothenate Kinase-Associated Neurodegeneration	Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D...	ORPHA:216873
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy...	ORPHA:401901
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations	OMIM:615048
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ...	OMIM:128235
Immunodeficiency 20	Recurrent otitis media, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural k...	OMIM:615707
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa...	OMIM:613101
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi...	OMIM:616267
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ...	OMIM:616269
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor, Self-biting	OMIM:619988
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Dysphagia, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Hyperphenylala...	OMIM:261630
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, Laryngeal dys...	ORPHA:94090
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha...	OMIM:606159
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity...	OMIM:617006
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Brunner Syndrome	Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance	OMIM:300615
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili...	ORPHA:66624
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism...	OMIM:616710
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypertonia, Hypoproteinemia, Aggressive behavior	OMIM:608093
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl...	OMIM:603553
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Depression, Limb...	ORPHA:71517
Autoimmune Hypoparathyroidism	Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany,...	ORPHA:36913
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level	OMIM:612126
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A...	ORPHA:3077
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In...	OMIM:302500
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai...	OMIM:617916
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi...	OMIM:618093
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia, Elevated circulating creatine kinase concentration	OMIM:310095
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp...	OMIM:618387
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Incr...	OMIM:618495
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait di...	ORPHA:98764
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct...	OMIM:615362
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, En...	OMIM:616050
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Dysphagia...	OMIM:254900
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy...	ORPHA:251282
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O...	OMIM:619028
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 r...	ORPHA:572
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa...	ORPHA:240094
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Variegate Porphyria	Tachycardia	OMIM:176200
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Splenomegaly, Neutropenia, B lym...	OMIM:301078
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Adamantinoma	Hypercalcemia	ORPHA:55881
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia	OMIM:605909
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis...	ORPHA:240085
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dys...	OMIM:159950
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia	OMIM:620270
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irritability, Hyperkinetic m...	OMIM:233910
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia	OMIM:618805
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp...	OMIM:619738
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations	OMIM:188580
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe...	OMIM:619470
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti...	OMIM:613470
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia	ORPHA:79320
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter	OMIM:618347
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Irrit...	OMIM:261640
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation...	ORPHA:90117
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema...	OMIM:301080
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276556
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell...	OMIM:620044
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ...	OMIM:618986
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio...	OMIM:604416
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Fasciculations	OMIM:313200
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H...	OMIM:617435
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A...	OMIM:619375
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur...	OMIM:611705
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin...	ORPHA:3095
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hypertrophic car...	ORPHA:276575
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp...	OMIM:617388
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My...	ORPHA:254881
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop...	ORPHA:229717
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin...	OMIM:615157
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Pseudohypoparathyroidism Type 1B	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalc...	ORPHA:94089
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Elevated circulating creatine kinase concentrati...	OMIM:600649
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri...	OMIM:212138
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv...	OMIM:620321
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, I...	OMIM:614298
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ...	ORPHA:240103
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Increased total bilirubin	ORPHA:90037
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Manganese Poisoning	Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ...	ORPHA:306682
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Dengue Fever	Hypoproteinemia	ORPHA:99828
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Impaired T cell function, Pure red cell aplasi...	OMIM:613179
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy, Increased C-peptide level	ORPHA:276580
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen...	ORPHA:540
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor	OMIM:606438
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+...	OMIM:606367
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Chronic Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529799
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior	ORPHA:208441
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Increased C-pept...	ORPHA:324575
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Tetraplegia, Hand tremor, Gait disturbance, Fasciculations, Mildly elevated creat...	OMIM:604484
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Immunodeficiency 27A	Hypoalbuminemia, Anorexia	OMIM:209950
Immunodeficiency 7	Chronic oral candidiasis, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophi...	OMIM:615387
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Spastic tetraplegia, Hypocalcemia, Inappropriate laughter, Difficulty walking, ...	OMIM:618476
Neuroferritinopathy	Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Palatal tremor, Chorea, Babi...	ORPHA:157846
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Parkinsonism, Tremor, Increased circulating ferritin ...	ORPHA:167
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam...	OMIM:619279
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:300257
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Autosomal Dominant Hypocalcemia	Writer's cramp, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability, ...	ORPHA:428
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Rhabdoid Tumor	Hemiplegia, Irritability, Cerebral palsy, Hypercalcemia	ORPHA:69077
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypocalcemia	OMIM:606407
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi...	ORPHA:98850
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Dysph...	ORPHA:79263
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr...	OMIM:137440
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia	OMIM:175500
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233710
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive...	OMIM:210000
X-Linked Charcot-Marie-Tooth Disease Type 3	Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis	ORPHA:101077
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to...	ORPHA:228360
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas...	ORPHA:276198
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia	ORPHA:2070
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
Leishmaniasis	Hypoalbuminemia, Anorexia	ORPHA:507
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Thrombocytopenia,...	OMIM:214500
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c...	ORPHA:368
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Dyspha...	OMIM:607483
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun...	OMIM:240500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Hsd10 Disease	Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myoclonus, Spastic parapa...	ORPHA:391417
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:233690
Activated Pi3K-Delta Syndrome	Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr...	ORPHA:397596
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Abnormal pyramidal sign, Neuromuscul...	ORPHA:240071
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia	OMIM:613239
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Abnormal joint morphology, Lim...	ORPHA:47612
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo...	OMIM:614867
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi...	OMIM:300623
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity	ORPHA:542310
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin...	OMIM:168605
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Spinocerebellar Ataxia, Autosomal Recessive 7	Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dysmetria, Clumsiness,...	OMIM:609270
Cystathioninuria	Cystathioninemia, Tremor	ORPHA:212
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy...	ORPHA:88
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie...	ORPHA:37042
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Pseudohypoparathyroidism Type 1C	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalc...	ORPHA:79444
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Irritability, Lower limb hypertonia,...	OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Dysphagia, Spasticity	OMIM:617913
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Antineutrophil antibody positi...	ORPHA:486
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c...	OMIM:615673
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Pseudohypoparathyroidism Type 1A	Calcinosis, Involuntary movements, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, ...	ORPHA:79443
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Gait disturbance, My...	OMIM:168601
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic le...	OMIM:616005
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ...	ORPHA:363400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne...	OMIM:608233
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dystonia, Sh...	OMIM:168600
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia	ORPHA:1667
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus	ORPHA:90036
Macrophage Activation Syndrome	Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Systemic lupus erythemato...	ORPHA:158061
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh...	ORPHA:75567
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr...	ORPHA:57777
Mitochondrial Trifunctional Protein Deficiency	Frequent falls, Babinski sign, Hypocalcemia, Tip-toe gait	ORPHA:746
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Increased circulating IgE level, Recu...	OMIM:619752
Cholera	Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia	ORPHA:173
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Poor motor coordination, Dystoni...	OMIM:277900
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv...	ORPHA:79254
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increase...	ORPHA:98813
Ethylene Glycol Poisoning	Ataxia, Slurred speech, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia, Myoclonus	ORPHA:31826
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Spasticity	OMIM:617093
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Babinski sign, Decreased LDL c...	ORPHA:14
East Syndrome	Salt craving, Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficul...	ORPHA:199343
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Hypophosphatasia	Irritability, Hypercalcemia	ORPHA:436
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio...	OMIM:607694
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Hypoalbuminemia,...	OMIM:619055
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,...	ORPHA:683
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula...	ORPHA:423
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa...	OMIM:300894
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r...	ORPHA:85414
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating total IgM, Decrease...	OMIM:619510
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Osteopetrosis, Autosomal Recessive 5	Clonus, Spastic tetraplegia, Irritability, Hypertonia, Hypocalcemia, Hyperbilirubinemia, Limb hyp...	OMIM:259720
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega...	OMIM:306400
Celiac Disease, Susceptibility To, 1	Ataxia, Hypocalcemia, Depression	OMIM:212750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Hypocalcemia, Myoclonic spasms, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre...	ORPHA:47
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Congenital Enterovirus Infection	Irritability, Hypoalbuminemia, Hyperammonemia	ORPHA:292
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio...	ORPHA:159
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, ...	ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Intention tremor	OMIM:212065
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
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of...	ORPHA:289494
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Tremor, Depression, Fasciculations, Difficulty walking, Frequent falls, Mildly elev...	ORPHA:329478
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dysphagia, Depression, Decreased serum zinc, Hypoalbuminemia, Decreased cir...	ORPHA:89842
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia	ORPHA:94080
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Osteopetrosis, Autosomal Recessive 1	Facial paralysis, Hypocalcemia	OMIM:259700
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Gait dis...	ORPHA:544254
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression	ORPHA:178509
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib...	ORPHA:90060
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia	OMIM:613870
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmu...	ORPHA:227990
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Gait ataxia, Spastic dysarthria, Progressiv...	ORPHA:95433
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulating acylcarn...	OMIM:616878
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ...	ORPHA:476126
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Hepatitis, Joint ...	ORPHA:829
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala...	OMIM:312170
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance	OMIM:118300
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia	ORPHA:79273
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Panniculi...	OMIM:615758
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms	OMIM:619092
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle...	ORPHA:2137
Thymoma	Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch...	ORPHA:99867
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Mercury Poisoning	Hypertension, Hypokalemia, Tachycardia, Hypotension	ORPHA:330021
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Spasticity, Hypoalbuminemia	OMIM:618329
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder	OMIM:619556
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmu...	ORPHA:227982
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Igg4-Related Thyroid Disease	Vocal cord paralysis, Hypocalcemia, Dysphagia	ORPHA:64744
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM...	OMIM:617099
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Obsessive-compulsive ...	ORPHA:36387
Mucopolysaccharidosis-Plus Syndrome	Inability to walk, Hypoalbuminemia	OMIM:617303
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Abnormal rep...	ORPHA:457240
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Galloway-Mowat Syndrome 1	Ataxia, Spastic tetraplegia, Hypoalbuminemia, Dystonia, Spasticity	OMIM:251300
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Myositis, Panniculitis, Autoimmune hemolytic anemia	OMIM:619183
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Omenn Syndrome	Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abn...	ORPHA:39041
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo...	ORPHA:1855
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit...	ORPHA:589
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Autoimmunity, Cholangitis, Hypersplenism, Anti-thyroid peroxidase antibody positivi...	ORPHA:228426
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi...	ORPHA:411602
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, Myoclonus, Inte...	OMIM:616505
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Systemic lupus erythematosus, Chronic ly...	ORPHA:90033
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Osteolysis, F...	OMIM:612852
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D...	OMIM:614381
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Tularemia	Tachycardia	ORPHA:3392
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Dermatitis Herpetiformis	Recurrent fractures, Eczema, Autoimmunity, Microcytic anemia	ORPHA:1656
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Velocardiofacial Syndrome	Emotional lability, Hypocalcemia, Aggressive behavior	OMIM:192430
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hypophosphatasia, Infantile	Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia	OMIM:241500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca...	OMIM:614921
Hyperthyroidism, Nonautoimmune	Tachycardia, Increased circulating thyroglobulin level	OMIM:609152
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe...	OMIM:617710
Hypocalciuric Hypercalcemia, Familial, Type Iii	Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Tachycardia, Abnormal circulating fatty-acid concentration	ORPHA:263455
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Bradykinesia, P...	ORPHA:309854
Xfe Progeroid Syndrome	Poor coordination, Hypoalbuminemia	OMIM:610965
Paternal Uniparental Disomy Of Chromosome 1	Myoclonus, Polyphagia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia	ORPHA:85443
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Gait imbalance...	ORPHA:2828
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Depression	ORPHA:79095
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest	ORPHA:49827
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 32	Dystonia, Tremor, Inability to walk, Choreoathetosis, Dysphagia, Spasticity	OMIM:617664
Galloway-Mowat Syndrome 3	Spasticity, Hypoalbuminemia	OMIM:617729
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Hypoalbuminemia	OMIM:235510
Infantile Myofibromatosis	Hemiplegia/hemiparesis, Hypercalcemia	ORPHA:2591
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage	ORPHA:335
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis	OMIM:619574
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neu...	ORPHA:811
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Myoc...	ORPHA:98794
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Hypercalcemia, Tetraparesis	OMIM:602080
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Rh Deficiency Syndrome	Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Pearson Syndrome	Ataxia, Hypomagnesemia, Dysphagia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo...	OMIM:619644
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Hyperparathyroidism, Neonatal Severe	Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia	OMIM:239200
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension	ORPHA:79473
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Decreased serum zinc, Emotional lability	OMIM:201100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Antiphospholipid antibody posi...	ORPHA:391487
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ...	ORPHA:97214
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysphagia, Loss of...	OMIM:607426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi...	OMIM:618056
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy...	OMIM:235700
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
Gitelman Syndrome	Salt craving, Paralysis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia	ORPHA:358
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul...	ORPHA:723
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P...	OMIM:263800
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hypoalbuminemia	ORPHA:505248
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Sepsis In Premature Infants	Hypotension, Tachycardia, Bradycardia, Elevated circulating C-reactive protein concentration	ORPHA:90051
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia	ORPHA:276621
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Tremor, Abnormal...	ORPHA:3008
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Difficulty walk...	ORPHA:502423
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hypocalcemia, Hypophosphatemia	ORPHA:667
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis...	OMIM:251260
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:601104
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent...	ORPHA:340
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S...	ORPHA:536
Hyperlysinemia	Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di...	ORPHA:2203
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio...	ORPHA:99826
Familial Dysautonomia	Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemiparesis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia	ORPHA:2135
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98863
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Graft Versus Host Disease	Tachycardia, Hyperbilirubinemia	ORPHA:39812
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration, Tetraparesis	ORPHA:2785
Acute Adrenal Insufficiency	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:95409
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Vitamin D-Dependent Rickets, Type 2A	Irritability, Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Elevated circulating creatine kinase concentration, Epistaxis, ...	ORPHA:99827
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia	ORPHA:199299
Say-Barber-Miller Syndrome	Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo...	ORPHA:3132
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia	ORPHA:36238
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Mirizzi Syndrome	Tachycardia, Hyperbilirubinemia	ORPHA:521219
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aggressive behavior, Hypertonia, Hypoalbuminemia, Elevated circulating 7-dehydroch...	OMIM:270400
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's...	OMIM:249100
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Hypercalcemia	ORPHA:29072
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ...	OMIM:208900
Alternating Hemiplegia Of Childhood	Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnor...	ORPHA:2131
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Impulsivity, Hypomagnesemia, Dysphagia, Stereotypical body rocking, Falls, Low ...	OMIM:619503
Primary Sclerosing Cholangitis	Hypoalbuminemia, Depression	ORPHA:171
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ...	ORPHA:49041
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
22Q11.2 Deletion Syndrome	Hypocalcemia, Attention deficit hyperactivity disorder, Depression	ORPHA:567
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ...	ORPHA:436252
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp...	ORPHA:646
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia	ORPHA:79276
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Anorexia	OMIM:619381
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
Intrahepatic Cholestasis Of Pregnancy	Tremor, Increased serum bile acid concentration, Hyperbilirubinemia, Depression	ORPHA:69665
Addison Disease	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:85138
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,...	ORPHA:447753
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Hypertonia, Spasticity	OMIM:616539
Tatton-Brown-Rahman Syndrome	Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Ankle swelling, Ec...	ORPHA:3260
Leptospirosis	Hyperproteinemia, Anorexia	ORPHA:509
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:99880
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Digeorge Syndrome	Hemiparesis, Hypocalcemia, Attention deficit hyperactivity disorder	OMIM:188400
Parathyroid Carcinoma	Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia	ORPHA:143
Ogden Syndrome	Ventricular tachycardia, Premature ventricular contraction, Hyperbilirubinemia, Torsade de pointe...	OMIM:300855
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Thrombocytopenia	ORPHA:647
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ...	ORPHA:254892
Charge Syndrome	Self-mutilation, Hypocalcemia, Dysphagia	OMIM:214800
Oculopharyngodistal Myopathy 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Dysphagia	OMIM:164310
Vipoma	Hypokalemia, Hypercalcemia, Anorexia	ORPHA:97282
Ppoma	Hypercalcemia, Anorexia	ORPHA:97278
Degcags Syndrome	Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis, Hyperbilirubinemia	OMIM:619488
Glucagonoma	Hypercalcemia, Anorexia, Depression	ORPHA:97280
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Hereditary Xanthinuria	Arthropathy, Gout, Rheumatoid arthritis	ORPHA:3467
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Keratitis...	ORPHA:99843
Williams Syndrome	Ataxia, Involuntary movements, Hypercalcemia, Elevated circulating creatine kinase concentration,...	ORPHA:904
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Somatostatinoma	Hypercalcemia, Anorexia	ORPHA:97283
Grfoma	Hypercalcemia, Anorexia	ORPHA:97261
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis	ORPHA:3384
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Depression	ORPHA:652
Williams-Beuren Syndrome	Incoordination, Hypercalcemia, Poor coordination, Vocal cord paralysis, Gait imbalance, Attention...	OMIM:194050
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H...	ORPHA:91347
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Sarcoidosis	Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart block, Ventricul...	ORPHA:797
Pmm2-Cdg	Reduced thyroxin-binding globulin, Abnormality of coordination, Hypoalbuminemia, Ataxia	ORPHA:79318
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Sotos Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Poor coordination, Attention deficit hyperactivity di...	ORPHA:821
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Increased circulating IgM level, Throm...	ORPHA:99829
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis	ORPHA:137605
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Cystic Fibrosis	Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis	OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fcgr3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fcgr3.

No publications found that use IMPC mice or data for Fcgr3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fcgr3^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Fcgr3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Fcgr3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fcgr3 MGI:95500

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Embryo LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Fcgr3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data