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Gene: Rreb1 MGI:2443664

Gene Summary

Name:

ras responsive element binding protein 1

Synonyms:

B930013M22Rik, 1110037N09Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating calcium level	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.72×10^-06
decreased erythrocyte cell number	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.99×10^-07
increased red blood cell distribution width	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.06×10^-07
decreased hemoglobin content	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.13×10^-07
increased leukocyte cell number	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.56×10^-05
decreased total body fat amount	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.55×10^-05
decreased circulating serum albumin level	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.52×10^-05
decreased hematocrit	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.89×10^-07
increased lean body mass	Rreb1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.43×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rreb1 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 Rreb1 (1 diseases)
Human diseases predicted to be associated with Rreb1 (1432 diseases)

The table below shows human diseases associated to Rreb1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
22Q11.2 Deletion Syndrome		Inguinal hernia, Abnormal dental enamel morphology, Splenomegaly, Obesity, Hypoplasia of the thym...	ORPHA:567

The table below shows human diseases predicted to be associated to Rreb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Burn-Mckeown Syndrome	Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal cardiac septum morphology, Sho...	ORPHA:1200
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Hepatospl...	OMIM:612526
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased...	OMIM:616050
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ...	OMIM:224120
14Q11.2 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Highly arched eyebrow, Hypertelori...	ORPHA:261120
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Synoph...	OMIM:300280
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Failure to thrive, Hypocalcemia	ORPHA:172
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Telecanthus, Cleft ala nasi, Hypertelorism, Underdeveloped nasal alae, Wide nasal bridge, Convex ...	ORPHA:2007
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Trigonocephaly 2	Downslanted palpebral fissures, Depressed nasal bridge, Wide nasal bridge, Hypertelorism	OMIM:614485
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Noonan Syndrome 8	Epicanthus, Ventricular septal defect, Hypertelorism, Mitral regurgitation, Pulmonic stenosis, At...	OMIM:615355
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Weiss-Kruszka Syndrome	Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Highly arched eye...	OMIM:618619
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Primary Intestinal Lymphangiectasia	Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:90362
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven...	OMIM:618052
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Neutropenia, Weight loss, Anemia, Hypocalcemia, Cellulitis...	ORPHA:47
17Q21.31 Microduplication Syndrome	Epicanthus, Anteverted nares, Synophrys, Short nose, Thick eyebrow	ORPHA:217340
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cantu Syndrome	Epicanthus, Anteverted nares, Bicuspid aortic valve, Depressed nasal bridge, Cardiomegaly, Perica...	OMIM:239850
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypertelo...	ORPHA:1529
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Noonan Syndrome 11	Depressed nasal bridge, Hypertelorism, Bulbous nose, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:618499
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Epicanthus, Short nose, Anteverted nares	ORPHA:2015
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Hypertelorism	OMIM:125700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Non-Distal Duplication 10Q	Depressed nasal bridge, Hypertelorism, Blepharophimosis, Short nose, Downslanted palpebral fissur...	ORPHA:1695
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Synophrys, Wide nasal bridge, A...	ORPHA:401935
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Short nose, Ptosis	ORPHA:438178
Acrocephalopolydactyly	Epicanthus, Hypertelorism, Depressed nasal ridge, Hepatosplenomegaly, Short nose	ORPHA:221054
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Combined Oxidative Phosphorylation Deficiency 31	Depressed nasal bridge, Anteverted nares, Bulbous nose, Deeply set eye, Left ventricular noncompa...	OMIM:617228
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Cardiomyopathy, ...	OMIM:618437
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Failure to...	OMIM:608104
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Hypertelorism, Highly arched eyebrow, A...	OMIM:300887
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, M...	OMIM:232400
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG...	OMIM:615418
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Tangier Disease	Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Splenomegaly, Facial diplegia, Distal...	OMIM:205400
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr...	OMIM:613156
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys, Abnormal heart morphology	DECIPHER:52
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Abnormal cardiac septum morphology, Proptosis	ORPHA:2370
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Anteverted nares, Hypertelorism, Aplasia/Hypoplasia of the eyebrow, Pulmonic stenosis...	ORPHA:2701
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Abnormal nasal mor...	ORPHA:83473
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Depressed nasal bridge...	ORPHA:284169
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Weight loss	ORPHA:69077
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Epicanthus, Anteverted nares, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, Deepl...	OMIM:613604
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Highly arched eyebrow, Hypertelorism, Bulbous nose, Synophrys, Wide nasal bridg...	OMIM:615979
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Ring Chromosome 8 Syndrome	Epicanthus, Short nose, Anteverted nares	ORPHA:1450
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi...	OMIM:246700
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph...	OMIM:617713
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Intellectual Developmental Disorder, X-Linked 91	Epicanthus, Short nose	OMIM:300577
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Hypertelorism, Short nose, Downslanted palpebral fissures, Broad nasal tip	OMIM:613670
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Potocki-Shaffer Syndrome	Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Downslanted pa...	OMIM:601224
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Anemia	ORPHA:436
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
8P23.1 Duplication Syndrome	Wide nose, Ventricular septal defect, Highly arched eyebrow, Hypertelorism, Deeply set eye, Pulmo...	ORPHA:251076
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Hypertelorism, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, B...	OMIM:618828
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Convex nasal ridge, Hypertelorism	ORPHA:3173
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Childhood-Onset Nemaline Myopathy	Scapular winging, Hypertelorism, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Anteverted nares, Ventricular septal defect, Short nose	OMIM:618506
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Hypertelorism, Recurrent upper respiratory tract infections, Flexion contracture...	ORPHA:391372
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Ptosis, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Fac...	OMIM:619424
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Hypertelorism, Flexion contracture, Cardiomyopathy, Facial...	ORPHA:171433
Rhiny	Short nose, Anteverted nares	OMIM:180360
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Wide nasal bridge, Ptosis	ORPHA:2229
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Noonan Syndrome 10	Epicanthus, Mitral stenosis, Ventricular septal defect, Hypertelorism, Sparse eyebrow, Mitral val...	OMIM:616564
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Synophrys, Transposition of the gr...	ORPHA:1913
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Epicanthus, Telecanthus, Anteverted nares, Thick eyebrow, Hype...	OMIM:619383
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Harel-Yoon Syndrome	Upslanted palpebral fissure, Deeply set eye, Distal amyotrophy, Hypertrophic cardiomyopathy, Shor...	OMIM:617183
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Telecanthus, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Clark-Baraitser Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Upslanted palpebral fissure,...	OMIM:617752
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
17P13.3 Microduplication Syndrome	Wide nose, Downslanted palpebral fissures, Short nose, Hypertelorism	ORPHA:217385
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply set e...	OMIM:617991
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than typ...	OMIM:300580
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Hypertelorism, Broad nasal tip, Upper eyelid coloboma, Proptosis, Short n...	OMIM:619736
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Frontofacionasal Dysplasia	Telecanthus, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Limbal derm...	ORPHA:1791
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism...	ORPHA:2143
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Neurofibromatosis-Noonan Syndrome	Hypertelorism, Pulmonic stenosis, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Pt...	ORPHA:638
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Highly ...	OMIM:618774
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Telecanthus, Facial hypotonia, Hypertelorism, Mitral valve prolapse, Mitral regurgitation, Downsl...	OMIM:615539
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Deeply set eye, Short nose, Thick eyebrow, Synophrys	ORPHA:2429
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy	OMIM:309930
Alg6-Cdg	Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Trigonocephaly 1	Epicanthus, Synophrys, Wide nasal bridge, Hypotelorism, Upslanted palpebral fissure, Short nose	OMIM:190440
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomeg...	OMIM:618652
Pierpont Syndrome	Wide nose, Telecanthus, Hypertelorism, Broad nasal tip, Unilateral narrow palpebral fissure, Deep...	OMIM:602342
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Chromosome 6Q11-Q14 Deletion Syndrome	Epicanthus, Prominent nasal bridge, Hypertelorism, Broad nasal tip, Hypotelorism, Upslanted palpe...	OMIM:613544
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa...	ORPHA:521308
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Enamel hypo...	OMIM:212750
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Short nose, Proptosis, Anteverted nares	ORPHA:1832
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Flexion contracture, Anemia, Atypical scarring of skin, ...	ORPHA:89842
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating crea...	ORPHA:36234
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Flexion contracture...	OMIM:613870
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Epicanthus, Hypertelorism, Flexion contracture, Depressed nasal tip, Mitral regurgitation, Campto...	ORPHA:88630
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Leopard Syndrome 2	Epicanthus, Depressed nasal bridge, Hypertelorism, Hypertrophic cardiomyopathy, Downslanted palpe...	OMIM:611554
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Bulbous nose, Wide ...	ORPHA:369891
Cornelia De Lange Syndrome 2	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Synophrys, Long eyelashes, Hyper...	OMIM:300590
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Choanal atresia, Hypertelorism, Wide nasal bridge, Small thenar eminence, Deeply set ...	OMIM:619148
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Synophrys, Deeply set eye, Long eyelashes, Pulmonary arterial hyperte...	OMIM:619064
Perlman Syndrome	Hepatomegaly, Epicanthus, Anteverted nares, Wide nasal bridge, Deeply set eye, Short nose, Ptosis	ORPHA:2849
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Short nose, Distichiasis, Generalized limb muscle atrophy	ORPHA:2598
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Coenzyme Q10 Deficiency, Primary, 7	Epicanthus, Ventricular septal defect, Hypoplastic left heart, Bradycardia, Hypertrophic cardiomy...	OMIM:616276
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslanted palpebral fissures, Sh...	OMIM:611936
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Pseudohypoparathyroidism, Type Ic	Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:612462
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Teebi Hypertelorism Syndrome 1	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Highly arched...	OMIM:145420
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Underdeveloped nasal alae, Bulbous nose, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline ...	OMIM:616549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Short nose, Depressed nasal bridge, Hypertelorism	OMIM:616910
Fetal Valproate Spectrum Disorder	Epicanthus, Short nose, Depressed nasal ridge	ORPHA:1906
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Microcephaly-Capillary Malformation Syndrome	Ptosis, Wide nose, Ventricular septal defect, Hypertelorism, Atrial septal defect, Short nose, Pa...	OMIM:614261
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Anteverted nares, Parachute mitral valve, Prominent nose, Depressed na...	OMIM:618316
Mulibrey Nanism	Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Hypertelorism, Congestive heart fa...	OMIM:253250
Fg Syndrome 5	Epicanthus, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Short nose	OMIM:300581
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytop...	OMIM:617303
Noonan Syndrome 6	Epicanthus, Depressed nasal bridge, Long eyebrows, Hypertelorism, Bilateral ptosis, Wide nasal br...	OMIM:613224
Mucopolysaccharidosis, Type X	Aortic regurgitation, Thickened aortic valve cusp, Wide nasal bridge, Left ventricular hypertroph...	OMIM:619698
Congenital Disorder Of Glycosylation, Type Iig	Anteverted nares, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Campt...	OMIM:611209
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Depressed nasal bridge, Hypertelorism	OMIM:618378
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia	OMIM:602361
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Hypertelorism, Upslanted palpebral fissure, Deeply set ...	OMIM:613443
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Flexion contracture	OMIM:618379
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Hypertelorism, Wide nasal bridge, Proptosis, Long eyelashes, Short nose	OMIM:618577
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Baraitser-Winter Syndrome 1	Epicanthus, Bicuspid aortic valve, Anteverted nares, Highly arched eyebrow, Hypertelorism, Wide n...	OMIM:243310
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypocalcemia	OMIM:618440
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Tetrasomy 18P	Epicanthus, Syncope, Short nose, Achalasia, Downslanted palpebral fissures	ORPHA:3307
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Dislocation Of The Hip-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Hypertelorism, Depressed nasal ridge, Wide nasal bridge, Abnormal c...	ORPHA:2412
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cerebral hemorrhage, Hypertelorism, Congenital ptosis, Dilated cardiomyopathy, Flared ...	ORPHA:280679
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly	OMIM:610717
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
8P23.1 Microdeletion Syndrome	Epicanthus, Prominent nasal bridge, Congenital diaphragmatic hernia, Wide nasal bridge, Upslanted...	ORPHA:251071
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
5Q14.3 Microdeletion Syndrome	Anteverted nares, Upslanted palpebral fissure, Deeply set eye, Short nose, Thick eyebrow	ORPHA:228384
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Ventricula...	OMIM:617201
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Upslanted palpebral fissure, Deeply set eye, Hypertrophic cardiomyopathy, Lower limb amyotrophy, ...	ORPHA:496790
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Oculoskeletodental Syndrome	Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia	OMIM:606407
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Anteverted nares, Cardiomegaly, Congestive heart failure, Splenomegaly,...	OMIM:269920
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Adamantinoma	Hypercalcemia	ORPHA:55881
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ptosis	OMIM:615917
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy	ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Even-Plus Syndrome	Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Atrial septal defect, S...	OMIM:616854
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Ventricular septal defect, Anteverted nares, Cardiomegaly, Hypertelorism, Flexion co...	OMIM:616897
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Benign Samaritan Congenital Myopathy	Epicanthus, Internally nucleated skeletal muscle fibers, Hypertelorism, Centrally nucleated skele...	ORPHA:324581
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Epicanthus, Abnormal atrioventricular valve physiology, Ab...	ORPHA:576
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ...	OMIM:620292
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Anosmia, Limb muscle weakness, Cardiomyopathy, Arrhythmia...	OMIM:266500
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Intellectual Developmental Disorder, X-Linked 21	Upslanted palpebral fissure, Short nose, Synophrys, Hypertelorism	OMIM:300143
Pterygium Colli, Isolated	Epicanthus, Short nose	OMIM:177990
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ...	ORPHA:79277
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr...	OMIM:602390
Acromicric Dysplasia	Abnormal eyebrow morphology, Anteverted nares, Bulbous nose, Long eyelashes, Short nose	ORPHA:969
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Hypertelorism, Pericardial effusion, Hepatosplenomegaly, Ab...	OMIM:608776
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, B...	OMIM:617061
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Ptosis	OMIM:520000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Al-Raqad Syndrome	Atrial septal defect, Deeply set eye, Short nose	OMIM:616459
Stickler Syndrome Type 1	Short nose, Proptosis, Mitral valve prolapse	ORPHA:90653
Peho-Like Syndrome	Epicanthus, Short nose	OMIM:617507
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
16P11.2P12.2 Microdeletion Syndrome	Epicanthus, Tricuspid regurgitation, Anteverted nares, Camptodactyly of finger, Long nose, Bulbou...	ORPHA:261211
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Congestive h...	OMIM:314400
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Macroglossia, Proptosis...	ORPHA:1914
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Ptosis, Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation,...	OMIM:212112
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Thin eyebrow, Downsla...	OMIM:617392
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Hypertelorism, Broad nasal tip, Wide nasal bridge, Upslanted palpebral fissure, Short nose	OMIM:615716
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Facial palsy, Lagophthal...	OMIM:614744
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Vici Syndrome	Wide nose, Epicanthus, Depressed nasal bridge, Hypertelorism, Congestive heart failure, Dilated c...	OMIM:242840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory ...	OMIM:614069
16P12.1P12.3 Triplication Syndrome	Unilateral ptosis, Tachycardia, Epicanthus, Thick eyebrow, Bulbous nose, Abnormal heart morpholog...	ORPHA:485405
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Bilateral ptosis, Cardiomyopathy, ...	ORPHA:329336
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber...	ORPHA:401768
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Hypertelorism, Splenomegaly, Diffuse telangiectasia, Concav...	OMIM:170100
Mogs-Cdg	Hepatomegaly, Wide nose, Cardiomegaly, Hepatosplenomegaly, Long eyelashes, Atrial septal defect, ...	ORPHA:79330
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	OMIM:264700
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Cardiomyopathy, Abnormal ca...	OMIM:217980
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Tetrasomy 12P	Telecanthus, Anteverted nares, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Short ...	ORPHA:884
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypertelorism, ...	OMIM:167730
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Anteverted nares, Ventricular septal...	OMIM:616651
Miller-Dieker Syndrome	Epicanthus, Short nose, Anteverted nares	ORPHA:531
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Depressed nasal bridge, Congenital diaphragmatic hernia, Cardiomegaly, Hyp...	OMIM:245600
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal tip, Short nose	OMIM:137550
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Deeply set eye, Short nose	OMIM:300558
Baker-Gordon Syndrome	Epicanthus, Prominent nasal tip, Short nose	OMIM:618218
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Depressed nasal bridge, Hypertelorism	OMIM:617757
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Hypertelorism, Prominent eyelashes, Wide nasal bridge, Upslanted palpebra...	OMIM:619179
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia	OMIM:239200
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Diabetes Mellitus, Permanent Neonatal, 1	Reduced C-peptide level, Small for gestational age, Elevated hemoglobin A1c	OMIM:606176
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Hypertelorism, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Narrow pal...	OMIM:618571
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Noonan Syndrome 5	Epicanthus, Depressed nasal bridge, Hypertelorism, Sparse eyebrow, Arrhythmia, Pulmonic stenosis,...	OMIM:611553
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hypertelorism, Upslanted palpebral fissure, Deeply set eye, Narrow palpebral fissure, Short nose,...	OMIM:618087
Codas Syndrome	Epicanthus, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Midline defect o...	ORPHA:1458
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Rhinitis	ORPHA:93476
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Blepharophim...	OMIM:614114
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
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
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophic cardiomyopathy, Ptosis	OMIM:613561
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory tract infections...	OMIM:252920
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge, Hypertelorism	OMIM:612563
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia	OMIM:235255
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr...	ORPHA:14
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Roifman Syndrome	Narrow nasal bridge, Noncompaction cardiomyopathy, Hip contracture, Underdeveloped nasal alae, Hy...	ORPHA:353298
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Bicuspid aortic valve, Broad nasal tip, Hypertelorism, Wide nasal bridge, Propt...	OMIM:618529
Cranioectodermal Dysplasia 2	Unilateral ptosis, Hepatomegaly, Epicanthus, Telecanthus, Depressed nasal bridge, Sparse eyelashe...	OMIM:613610
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypertelorism, Narrow naris, Short nose, Downslanted palpebr...	OMIM:122880
Encephalopathy Due To Sulfite Oxidase Deficiency	Deeply set eye, Short nose	ORPHA:833
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Hypertension, Pulmonary arteri...	OMIM:613320
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive, Anemia	ORPHA:79396
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Hypertelorism, Flexion contracture, Wide nasal bridge, Limb muscle weakn...	OMIM:218000
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Long eyelashes, Thick eyebrow	ORPHA:1514
Hemochromatosis, Type 2B	Splenomegaly, Cardiomyopathy, Congestive heart failure, Hepatomegaly	OMIM:613313
Camptodactyly Syndrome, Guadalajara Type 1	Scapular winging, Epicanthus, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, ...	ORPHA:1327
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Depressed nasal bridge, Hyperteloris...	ORPHA:7
Autosomal Dominant Progressive External Ophthalmoplegia	Ptosis, Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ra...	ORPHA:254892
Alg12-Cdg	Hyponatremia, Camptodactyly, B lymphocytopenia, Hypoalbuminemia, Abnormal adipose tissue morpholo...	ORPHA:79324
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, Blepharophimosis, Short...	ORPHA:171839
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Hypertelorism, Splenomegaly, Sparse eyebrow, N...	OMIM:604173
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Hypocholeste...	OMIM:212065
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis, Short nose	OMIM:618961
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome...	ORPHA:324410
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Hypertelorism, Broad nasal tip, Wide nasal bridge, Upslanted palpebral fissure, Long palpebral fi...	OMIM:614749
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Congenital d...	ORPHA:363528
Noonan Syndrome 3	Hypoplastic nasal bridge, Epicanthus, Ventricular septal defect, Anteverted nares, Hypertelorism,...	OMIM:609942
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Bulbous nose, Short nose, Do...	OMIM:614105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Hypercalcemia, Obesity, Increased blood urea nitrogen, Episodi...	ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Blepharophimosis, ...	OMIM:613026
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Synophrys, Perimembranous ventricular septal defect, Transposition of the great...	OMIM:617877
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Depressed nasal bridge, Anteverted nares, Abnormal heart morphology, Short nose, Dow...	ORPHA:314655
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Synophrys, Wide nasal b...	OMIM:614701
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Anemia, Hypoalbuminemia, Subcutaneous lipoma	ORPHA:79076
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Anteverted nares, Congenital diaphragmatic hernia, Atrial septal defect,...	ORPHA:1915
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hypocalcemic...	ORPHA:94089
Hypophosphatasia, Infantile	Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia, Anemia	OMIM:241500
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Ventricular septal defect, Choanal atresia, Upslanted ...	OMIM:610536
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen...	ORPHA:699
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Hypertelorism, Secundum atrial septal defect, Congestive heart failure, ...	OMIM:616866
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Telecanthus, Hypertelorism, Synophrys, Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	ORPHA:289157
Distal Duplication 5Q	Epicanthus, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Hypertelorism, Short...	ORPHA:96097
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hernia, Thrombocyto...	ORPHA:505248
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor...	ORPHA:1248
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Timothy Syndrome	Hypocalcemia	OMIM:601005
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Inguinal hernia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjug...	OMIM:613658
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Leukopenia, Hy...	ORPHA:2298
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Congenital Disorder Of Glycosylation, Type Iu	Hypotelorism, Short nose, Congenital contracture	OMIM:615042
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral...	OMIM:616420
Ohdo Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Wide nasal bridge, Blepharo...	OMIM:249620
Isotretinoin-Like Syndrome	Inguinal hernia, Lymphopenia, Hypocalcemia	ORPHA:2306
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Depressed nasal bridge, Palpebral edema, Bulbous nose, Macroglossia, Blepharophimosis...	ORPHA:261144
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Bradycardia, Ca...	OMIM:610015
Meckel Syndrome, Type 8	Pericardial effusion, Short nose, Depressed nasal ridge, Enlarged kidney	OMIM:613885
Non-Distal Duplication 13Q	Abnormal eyelash morphology, Synophrys, Hypotelorism, Short nose, Thick eyebrow	ORPHA:1702
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Increased vari...	OMIM:258450
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Depressed nasal bridge, Narrow...	OMIM:619127
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Highly arched eyebrow, Hypertelorism, Synophrys, Conotrun...	ORPHA:96147
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Narrow nasal bridge, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular ...	ORPHA:466791
Trisomy 12P	Epicanthus, Hypertelorism, Wide nasal bridge, Proptosis, Short nose, Thick eyebrow	ORPHA:1699
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal t...	OMIM:222448
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Upslanted palpebral fissure, Atrial septal defect, Short nose	ORPHA:79113
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail...	OMIM:610965
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Upslanted palpebral fissure, Proptosis, Choanal stenosis, Atrial septal defect,...	ORPHA:1790
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Ptosis, Sup...	ORPHA:98863
Bainbridge-Ropers Syndrome	Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Deeply set eye, C...	OMIM:615485
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Cantú Syndrome	Epicanthus, Abnormal heart valve morphology, Anteverted nares, Curly eyelashes, Cardiomegaly, Wid...	ORPHA:1517
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Short nose, Anteverted nares	OMIM:619356
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypocalcemia	OMIM:607143
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Hypertelorism, Broad nasal tip, Wide nasal bridge, Abnormal heart morpholo...	OMIM:239300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, We...	ORPHA:199299
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Macroglossia, Short nose	OMIM:242860
Tetrasomy 5P	Epicanthus, Anteverted nares, Hypertelorism, Congestive heart failure, Aplasia/Hypoplasia of the ...	ORPHA:3309
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension	ORPHA:320
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hypertelorism, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Long eyelash...	OMIM:620250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cerebral hemorrhage, Hypertelorism, Dilated cardiomyopathy, Abnormal left ventricle mo...	OMIM:300845
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Synophrys, Wide nasal bridge, Lim...	OMIM:615803
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Noonan Syndrome 4	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Sparse eyebrow, Bil...	OMIM:610733
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Anteverted nares, Prominent nasal ...	OMIM:618454
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,...	OMIM:193700
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Camptodactyly of finger	ORPHA:1495
Autosomal Dominant Optic Atrophy Plus Syndrome	Bilateral ptosis, Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose, Joint contracture, Skeletal muscle atrophy	OMIM:615419
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Rhizomelic Dysplasia, Patterson-Lowry Type	Epicanthus, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge, Hypertelorism	ORPHA:210548
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Pericardial effusion, Hypotelorism, Upsl...	OMIM:617822
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nose, Hypertelorism, Hypotelorism, Narrow palpebral fissure, Hy...	ORPHA:439822
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Antevert...	OMIM:616894
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Proptosis, Short nose, Ptosis	ORPHA:1185
Pseudohypoparathyroidism Type 1C	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hyp...	ORPHA:79444
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Verheij Syndrome	Ventricular septal defect, Anteverted nares, Broad nasal tip, Wide nasal bridge, Truncus arterios...	OMIM:615583
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:3222
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Noonan Syndrome 7	Epicanthus, Depressed nasal bridge, Hypertelorism, Pulmonic stenosis, Atrial septal defect, Palpe...	OMIM:613706
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Hypertelorism, Mitral valve prolapse, Mitral regurgitation, Aor...	OMIM:614185
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Lowry-Maclean Syndrome	Choanal atresia, Congenital diaphragmatic hernia, Proptosis, Atrioventricular canal defect, Short...	ORPHA:2409
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypertelorism, Broad nasal tip, Wide nasal bridge, Long palpebral fissure, Atrial septal defect, ...	OMIM:614207
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Synophrys, Wide nasal bri...	ORPHA:894
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Bicuspid aortic valve, Ven...	ORPHA:363705
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Congenital diaphragmatic hernia, Long n...	OMIM:617602
Fetal Hydantoin Syndrome	Epicanthus, Hypertelorism, Depressed nasal ridge, Short nose, Ptosis	ORPHA:1912
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Depressed nasal bridge, Hypertelorism, Upslanted palpebral fissure...	OMIM:619833
Cartilage-Hair Hypoplasia	Failure to thrive, Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Anteverted nares, Sparse eyelashes, Ventricular septal defect, Keratoconjunctivitis s...	OMIM:234050
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Long palpebral fissure, Shor...	ORPHA:163649
Dermotrichic Syndrome	Blepharophimosis, Short nose, Depressed nasal bridge	ORPHA:99688
Cardiofaciocutaneous Syndrome	Epicanthus, Abnormal heart valve morphology, Anteverted nares, Depressed nasal bridge, Hypertelor...	ORPHA:1340
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Frontofacionasal Dysplasia	Telecanthus, Hypertelorism, Underdeveloped nasal alae, Ankyloblepharon, Eyelid coloboma, Bifid no...	OMIM:229400
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Ankyloblepharon, Sparse or absent eyelashes, Eyelid coloboma, Poplitea...	ORPHA:1234
Distal Deletion 9P	Epicanthus, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Short nose	ORPHA:1642
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Cyclopia, Hypotelorism...	ORPHA:280200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Antley-Bixler Syndrome	Anteverted nares, Camptodactyly of finger, Choanal atresia, Hypertelorism, Proptosis, Short nose,...	ORPHA:83
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Double Outlet Right Ventricle	Failure to thrive, Hypocalcemia	ORPHA:3426
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis	OMIM:145981
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Chops Syndrome	Ventricular septal defect, Anteverted nares, Hypertelorism, Splenomegaly, Synophrys, Anomalous pu...	OMIM:616368
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae...	ORPHA:2083
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Ptosis	OMIM:619046
Smith-Kingsmore Syndrome	Depressed nasal bridge, Diastasis recti, Hypertelorism, Short nose, Downslanted palpebral fissures	OMIM:616638
Chromosome 16P13.3 Duplication Syndrome	Synophrys, Deeply set eye, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Hypert...	OMIM:613458
Craniosynostosis, Herrmann-Opitz Type	Short nose, Convex nasal ridge, Hypertelorism	ORPHA:2145
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Depressed nasal bridge, Hyp...	OMIM:612289
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hy...	OMIM:607014
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Epicanthus, Anteverted nares, Facial palsy, Aplasia of the pectoralis ma...	ORPHA:1358
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Hypertelorism	ORPHA:163961
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
20Q11.2 Microduplication Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Palpebral edema, Wide nasal bridge, Proptos...	ORPHA:363659
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Absent eyela...	OMIM:115150
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Anosmia, Total anosmia	OMIM:614879
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Ptosis, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal ala...	OMIM:615866
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypertelorism, Choanal stenosis, Shallow orbits, Short n...	OMIM:101600
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Anteverted nares, Sparse eyebrow, Wide nasal bridge, Hypertrophic cardiomyopathy	OMIM:618810
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
16P13.11 Microdeletion Syndrome	Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Cyc...	ORPHA:261236
White-Kernohan Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Thick eyebrow, Underdeveloped ...	OMIM:619426
Familial Isolated Hyperparathyroidism	Hypercalcemia, Chondrocalcinosis, Hypophosphatemia	ORPHA:99879
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Epicanthus, Depressed nasal bridge, Bulbous nose, Deeply set eye, Short nose	OMIM:618430
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:246900
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Edinburgh Malformation Syndrome	Short nose, Anteverted nares, Choanal atresia, Synophrys	ORPHA:1895
Baller-Gerold Syndrome	Narrow nasal bridge, Epicanthus, Prominent nasal bridge, Hypertelorism, Hypotelorism, Abnormal ca...	ORPHA:1225
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina...	OMIM:619055
Liver Disease, Severe Congenital	Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci...	OMIM:619991
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
19P13.13 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Macroglossia, Deeply set eye...	ORPHA:357001
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Epicanthus, Anteverted nares, Synophrys, Hypotelorism, Short nose, Downslanted palpebr...	ORPHA:391408
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:612840
Tangier Disease	Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Coronary artery stenosis, Ectr...	ORPHA:31150
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Acrodysostosis	Epicanthus, Anteverted nares, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Wide ...	ORPHA:950
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Wide nas...	ORPHA:1519
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge, Hypertelorism	ORPHA:93328
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to th...	ORPHA:358
Distal Duplication 18Q	Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Choanal atresia, Short nose	ORPHA:1716
Jacobsen Syndrome	Epicanthus, Telecanthus, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hyp...	OMIM:147791
Nablus Mask-Like Facial Syndrome	Telecanthus, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Hypertelorism, Abse...	OMIM:608156
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Impaired myoca...	ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia	OMIM:618329
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Epicanthus, Lacrimal duct stenosis, Prominent nasal bridg...	OMIM:619745
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hypertelorism, Myocarditis, Co...	ORPHA:3342
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Proptosis, Wide nasal bridge	OMIM:614078
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Choanal stenosis, Short...	OMIM:619859
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hyp...	ORPHA:79443
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Shoulder flexion contrac...	OMIM:620369
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, ...	OMIM:613457
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Eyelid coloboma, Proptosis, Abnormal...	ORPHA:3339
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hyp...	OMIM:244450
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Short nose, Anteverted nares, Hypertelorism	OMIM:601853
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Vici Syndrome	Hypotelorism, Cardiomyopathy, Hypertelorism, Depressed nasal tip	ORPHA:1493
Noonan Syndrome 2	Epicanthus, Mitral stenosis, Ventricular septal defect, Hypertelorism, Sparse eyebrow, Cardiomyop...	OMIM:605275
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Hypertelorism, Intraventricular hemorrhage, Wide nasal ...	OMIM:616430
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Anteverted nares, Hypertelorism, Highly arched eyebrow, Ao...	OMIM:220111
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia	OMIM:617729
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Downslanted palpebral fissures, Shallow orbits	ORPHA:1129
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Hypertelorism, Congestive heart failure, Splenomeg...	OMIM:230500
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Obesity	OMIM:103580
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Distal Deletion 10Q	Scapular winging, Epicanthus, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Hypotelo...	ORPHA:96148
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Depressed nasal bridge, Abnormal eyelid morphology, Hypertelorism, Deeply set eye, Sh...	ORPHA:1812
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:95409
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle ...	ORPHA:2463
Pontocerebellar Hypoplasia, Type 2E	Epicanthus, Wide nose, Flexion contracture, Facial telangiectasia, Short nose	OMIM:615851
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Dextrocardia, Underdeveloped nasal alae, Abnormal cardiac septum morphol...	ORPHA:2315
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Cenani-Lenz Syndrome	Ectropion, Hypertelorism, Proptosis, Short nose, Downslanted palpebral fissures, Convex nasal rid...	ORPHA:3258
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Hypertelorism, Splenomegaly...	OMIM:608013
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276556
Difference Of Sex Development-Intellectual Disability Syndrome	Deeply set eye, Short nose, Synophrys	ORPHA:2983
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac...	ORPHA:3386
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:235510
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Blepharitis, Horizontal eyebrow	ORPHA:294023
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve	OMIM:617168
Refsum Disease	Skeletal muscle atrophy, Heart block, Splenomegaly, Anosmia, Cardiomyopathy, Ptosis	ORPHA:773
Hennekam Syndrome	Splenomegaly, Lymphopenia, Camptodactyly of finger, Hypocalcemia	ORPHA:2136
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Embryonal rhabdom...	OMIM:257300
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Short nose, Recurrent upper respiratory tract infections, Ventr...	ORPHA:3078
Smith-Magenis Syndrome	Depressed nasal bridge, Anteverted nares, Hypertelorism, Synophrys, Wide nasal bridge, Upslanted ...	ORPHA:819
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Right bundle branch block, Deeply set...	OMIM:618590
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hypertelorism, Highly arched ...	ORPHA:261494
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Depressed nasal bridge, Cardiac arrest, Myofiber disarray, Myopathy, Increased vari...	OMIM:604377
Galloway-Mowat Syndrome 1	Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th...	OMIM:251300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly	ORPHA:2394
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Abnormal eyelid morphology, V...	OMIM:300855
Oculodentodigital Dysplasia	Narrow nasal bridge, Epicanthus, Anteverted nares, Ventricular septal defect, Camptodactyly of fi...	ORPHA:2710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Cardiomyopathy, Hepatomegaly	ORPHA:79312
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
C Syndrome	Hepatomegaly, Epicanthus, Anteverted nares, Ventricular septal defect, Wide nasal bridge, Upslant...	OMIM:211750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Abnormal eyelash morphology, Flared nostrils, Camptodactyly of 2nd-5th fi...	OMIM:206920
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Thenar mus...	OMIM:612394
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Congestive heart fai...	OMIM:231050
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis	OMIM:600740
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Bulbous nose, Syno...	ORPHA:364577
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly	ORPHA:772
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Deeply set eye, Concave nasal ridge, Shor...	OMIM:613038
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Scapular winging, Depressed nasal bridge, Telecanthus, Con...	ORPHA:26791
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy	ORPHA:276580
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anteverted nares, Depressed nasal ridge, Atrial septal defect, Hypertrophic cardiom...	ORPHA:1842
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Faciocardiorenal Syndrome	Hypertelorism, Underdeveloped nasal alae, Wide nasal bridge, Tricuspid valve prolapse, Endocardia...	ORPHA:1973
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Depressed nasal br...	ORPHA:79328
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Depressed nasal bridge, Underdeveloped nasal alae, Flexion contractur...	OMIM:616007
Hurler Syndrome	Hepatomegaly, Anteverted nares, Abnormal heart valve morphology, Depressed nasal bridge, Angina p...	ORPHA:93473
Trisomy 10P	Decreased muscle mass, Epicanthus, Depressed nasal bridge, Anteverted nares, Abnormality of the n...	ORPHA:171929
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Wide nose, Hepatomegaly, Secundum atrial septal defect, Congestive heart...	OMIM:608779
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Ptosis	OMIM:530000
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Hypoplastic right heart, Hypertelorism, Blepharophimosis, Congestive heart failure, Bu...	OMIM:617403
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Ant...	OMIM:619343
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Hypotelorism	OMIM:619053
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Long eyelashes, Depressed nasal bridge, Ankle flexion contracture	OMIM:617802
Cerebrofaciothoracic Dysplasia	Epicanthus, Wide nose, Hypertelorism, Synophrys, Short nose, Downslanted palpebral fissures, Thic...	ORPHA:1394
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Hypertelorism, Proptosis, Short nose	ORPHA:561
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Hypertelorism, Almond-sha...	ORPHA:177907
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Achondrogenesis	Short nose, Anteverted nares	ORPHA:932
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:615398
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy...	OMIM:300842
Diaphanospondylodysostosis	Epicanthus, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Short nose, Enlarged ki...	OMIM:608022
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Wide n...	ORPHA:560
Autosomal Recessive Robinow Syndrome	Epicanthus, Ventricular septal defect, Abnormal pulmonary valve morphology, Anteverted nares, Dep...	ORPHA:1507
Peho Syndrome	Epicanthus, Short nose	OMIM:260565
Ayme-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissu...	OMIM:601088
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Ptosis	OMIM:618798
Velocardiofacial Syndrome	Umbilical hernia, Inguinal hernia, Hypocalcemia	OMIM:192430
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:156
Oculodentodigital Dysplasia	Narrow nasal bridge, Epicanthus, Anteverted nares, Underdeveloped nasal alae, Blepharophimosis, J...	OMIM:164200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Mitral valve prolapse, Down...	OMIM:104350
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Underdeveloped nasal alae, Hypertelorism, Cicatricial lagophthalmos, ...	OMIM:263650
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Ptosis	ORPHA:254913
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, H...	ORPHA:171
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Camptodactyly of finger	ORPHA:2547
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Prominent nose, Hypertelorism, Bulbous nose, Depressed nasal ridge, Macrog...	OMIM:156200
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Splenomegaly, Obesity, Hypoplasia of the thym...	ORPHA:567
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Depressed nasal bridge, Splenomegaly, Short nose	OMIM:605309
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Blepharophimosis, Short nose, Ptosis	ORPHA:2031
Infantile Myofibromatosis	Hypercalcemia, Chondrocalcinosis	ORPHA:2591
Abcd Syndrome	Polycythemia, Large for gestational age	OMIM:600501
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Abnormality of the nose	ORPHA:79321
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Decreased heart rate variability, Underde...	OMIM:619005
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Anteverted nares, Subretinal pigment epithelium hemorrhage, Broad nasal ti...	ORPHA:357074
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Subvalvular aortic stenosis, Pulmonary arterial hypertension, Short nose,...	ORPHA:65286
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Hypertelorism, Abnormal heart morphology,...	ORPHA:2953
Achondrogenesis Type 1B	Short nose, Anteverted nares	ORPHA:93298
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Anteverted nares, Camptodactyly of finger, Cardiomegaly,...	OMIM:602782
Aarskog-Scott Syndrome	Anteverted nares, Hypertelorism, Wide nasal bridge, Short nose, Downslanted palpebral fissures, P...	OMIM:305400
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Short nose, Broad columella, Thick eyebrow	OMIM:617865
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Ventricular septal defect, Prominent nasal bridge, Dacryocystitis, Deeply set eye, Sho...	ORPHA:251028
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:369
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Pterygium	ORPHA:93329
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Hypertrophic cardiomyopathy	OMIM:620326
Achondrogenesis Type 1A	Short nose, Anteverted nares	ORPHA:93299
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Intraventricular hemorrhage, Wide nasal bridge, Narrow palpebral fissure, Short colum...	OMIM:613603
Coffin-Siris Syndrome	Thick eyebrow, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad nasal t...	ORPHA:1465
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Epicanthus, Anteverted nares, Highly arched eyebrow, Hypertelorism, Synophrys, Wide na...	OMIM:213980
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Hypertelorism, Bicuspid pu...	ORPHA:3427
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Penoscrotal Transposition	Cardiomyopathy, Epicanthus	ORPHA:2842
Trisomy 20P	Epicanthus, Anteverted nares, Camptodactyly of finger, Highly arched eyebrow, Hypertelorism, Upsl...	ORPHA:261318
Distal Deletion 12Q	Telecanthus, Anteverted nares, Bulbous nose, Elbow flexion contracture, Congenital hypertrophy of...	ORPHA:96149
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hypotelorism, Hepatomegaly, Short nose, Contractures of the large joints	ORPHA:329178
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Hypertelorism, Broad nasal tip, Wide nasal bridge, Short nose...	OMIM:300749
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Desmosterolosis	Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Total anomalous pulmonary venous return, ...	OMIM:602398
Pfeiffer Syndrome Type 1	Short nose, Proptosis, Depressed nasal bridge, Hypertelorism	ORPHA:93258
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Complete atrioventricular canal defect, Congenital ptosis, Synophrys, Slanting of the...	ORPHA:476126
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Unilateral ptosis, Anteverte...	OMIM:301044
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Depressed nasal bridge, Hypertelorism, Short nose, Ptosis	OMIM:616723
Ruvalcaba Syndrome	Short nose, Downslanted palpebral fissures, Convex nasal ridge, Ptosis	ORPHA:3121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Hypertelor...	OMIM:614080
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Anteverted nares, Hypertelorism, Upslanted palpebral fissure, Proptosis, ...	OMIM:616331
Jacobsen Syndrome	Epicanthus, Ectropion, Ventricular septal defect, Anteverted nares, Hypertelorism, Wide nasal bri...	ORPHA:2308
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Toriello-Carey Syndrome	Telecanthus, Sparse eyebrow, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosi...	ORPHA:3338
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Aymé-Gripp Syndrome	Pericarditis, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Pericardial...	ORPHA:1272
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Splenomegaly, Obesity, Anemia, Hypoplasia of the thymus, Hypocal...	OMIM:188400
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614613
Okamoto Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, H...	ORPHA:2729
Oculoectodermal Syndrome	Epicanthus, Depressed nasal bridge, Transient ischemic attack, Limbal dermoid, Wide nasal bridge,...	OMIM:600268
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Hypertelorism, M...	OMIM:301040
Bardet-Biedl Syndrome 1	Left ventricular hypertrophy, Hypertension	OMIM:209900
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Hepatomegaly	ORPHA:27
Miller-Dieker Lissencephaly Syndrome	Epicanthus, Anteverted nares, Wide nasal bridge, Abnormal heart morphology, Upslanted palpebral f...	OMIM:247200
Toluene Embryopathy	Epicanthus, Short nose, Short palpebral fissure	ORPHA:1920
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Epicanthus, Hypertelorism, Upslanted palpebral fissure, Short nose, Enlarged kidney	OMIM:200995
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Eyelid coloboma, Atrial septal defect, Anteverted nares, Facial palsy...	OMIM:615873
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Flexion contracture	ORPHA:544503
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Prominent nasal bridge, Hypertelorism, Hypotelorism, Joint contracture...	OMIM:601812
Monosomy 9P	Epicanthus, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Choanal at...	ORPHA:261112
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Ectropion, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased int...	ORPHA:98907
Fibrochondrogenesis 1	Anteverted nares, Depressed nasal bridge, Proptosis, Camptodactyly, Short nose, Joint contracture...	OMIM:228520
Ring Chromosome 7 Syndrome	Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, S...	ORPHA:1449
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Anteverted nares, Hypertelorism, Synophrys, Upslanted palpebral fissure, Proximal mus...	ORPHA:280633
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Highly arched eyebrow, Hypertelorism, Wide nasal bridge, Pulmonary arterial hyp...	ORPHA:2282
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Thick eye...	OMIM:618332
Costello Syndrome	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Mitral valve prolapse, Macroglossi...	ORPHA:3071
Peho Syndrome	Epicanthus, Anteverted nares, Palpebral edema, Flexion contracture, Arthrogryposis multiplex cong...	ORPHA:2836
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Renal And Mullerian Duct Hypoplasia	Short nose, Hypertelorism	OMIM:266810
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Odontochondrodysplasia	Short nose, Depressed nasal bridge	ORPHA:166272
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Pallister-Hall-Like Syndrome	Short nose, Depressed nasal bridge	OMIM:241800
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Trisomy 18	Epicanthus, Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, Camptoda...	ORPHA:3380
Gm1 Gangliosidosis	Depressed nasal bridge, Ventricular septal defect, Camptodactyly of finger, Broad nasal tip, Cong...	ORPHA:354
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Hypertelorism, Mitral regurgitation, Proptosis, Increased siz...	ORPHA:457395
Trisomy 8P	Multiple joint contractures, Anteverted nares, Abnormal atrioventricular connection, Depressed na...	ORPHA:264450
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Hypertelorism, Long eyelashes, Shallow orbits, Short nose, Downslanted pa...	OMIM:601353
Omodysplasia 1	Epicanthus, Depressed nasal bridge, Ventricular septal defect, Blepharophimosis, Wide nasal bridg...	OMIM:258315
Vipoma	Hypercalcemia, Weight loss, Hypokalemia, Normochromic anemia, Subcutaneous lipoma	ORPHA:97282
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Hypertelorism, Synophrys, Wide nasal bridge, Long eyelash...	ORPHA:319182
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Gapo Syndrome	Hepatomegaly, Epicanthus, Depressed nasal bridge, Anteverted nares, Facial palsy, Hypertelorism, ...	OMIM:230740
Desmosterolosis	Epicanthus, Depressed nasal bridge, Abnormality of the nose, Splenomegaly, Anomalous pulmonary ve...	ORPHA:35107
Femoral-Facial Syndrome	Upslanted palpebral fissure, Short nose	ORPHA:1988
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypertelorism, ...	ORPHA:306542
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes...	ORPHA:330015
Wars2-Related Combined Oxidative Phosphorylation Defect	Hypertelorism, Wide nasal bridge, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	ORPHA:572798
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s...	ORPHA:405
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Bulbous nose, Fl...	OMIM:309590
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hemolytic anemia, Hip contracture, Inguinal hernia, Flexion ...	OMIM:619503
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Splenomegaly, Abnormality ...	ORPHA:79083
Warburg Micro Syndrome 3	Blepharophimosis, Short nose, Decreased muscle mass, Flexion contracture	OMIM:614222
Martsolf Syndrome 1	Epicanthus, Depressed nasal bridge, Cardiac arrest, Broad nasal tip, Congestive heart failure, Ca...	OMIM:212720
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia	OMIM:156400
Glucagonoma	Hypercalcemia, Acanthocytosis, Weight loss, Normochromic anemia, Subcutaneous lipoma	ORPHA:97280
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Abnormal heart valve morphology, Camptodactyly of finger, Hypertelorism, ...	ORPHA:90652
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Splenomegaly, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Epicanthus, Type 2 muscle fiber predominance, Concave nasal ridge, Arrhy...	OMIM:615471
Fucosidosis	Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Hypertelorism, Splenomegaly, Flexi...	OMIM:230000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Epicanthus, Anteverted nares, Ventricul...	ORPHA:373
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short colume...	ORPHA:79345
Fibrochondrogenesis 2	Short nose, Anteverted nares	OMIM:614524
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Down Syndrome	Epicanthus, Depressed nasal bridge, Depressed nasal ridge, Upslanted palpebral fissure, Macroglos...	ORPHA:870
Cerebrooculonasal Syndrome	Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Hypertelorism, Sparse eyebrow, S...	OMIM:605627
Wolfram Syndrome 1	Cardiomyopathy, Ptosis	OMIM:222300
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Bohring-Opitz Syndrome	Depressed nasal bridge, Anteverted nares, Facial hypotonia, Cardiomegaly, Hypertelorism, Synophry...	ORPHA:97297
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Somatostatinoma	Subcutaneous lipoma, Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Hepatomegaly	OMIM:606054
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Ventricular septal defect, Upslanted palpebral fissure, Shallow orbits, A...	OMIM:301030
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopath...	OMIM:619121
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Short nose, Anteverted nares	OMIM:613735
Otopalatodigital Syndrome, Type I	Short nose, Downslanted palpebral fissures, Wide nasal bridge, Hypertelorism	OMIM:311300
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Desbuquois Dysplasia 1	Short nose, Concave nasal ridge, Depressed nasal bridge, Proptosis	OMIM:251450
Ctcf-Related Neurodevelopmental Disorder	Epicanthus, Anteverted nares, Highly arched eyebrow, Broad nasal tip, Hypertelorism, Synophrys, D...	ORPHA:363611
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Depressed nasal bridge, Hypotelorism, Short nose, Downslanted palpebral fissures, Con...	OMIM:300661
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Epicanthus, Progressive flexion contractures, Abnormal location of the eyebrow, Almond-shaped pal...	ORPHA:522077
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Oculopharyngodistal Myopathy 1	Ptosis, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Dila...	OMIM:164310
Warburg Micro Syndrome 2	Deeply set eye, Short nose, Flexion contracture, Prominent nasal bridge	OMIM:614225
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Depressed nasal bridge, Sparse eyelashes, Hypertelorism, Absent eyela...	OMIM:268400
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Lagophthalm...	OMIM:616580
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Short nose, Joint contracture, Wide nasal bridge	OMIM:618005
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Hypertelorism, Abnormal heart...	ORPHA:284984
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Epicanthus, Anteverted nares, Depressed nasal bridge, Diastas...	OMIM:252500
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Hypertelorism, Proptosis, Short nose	ORPHA:93259
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Cranioectodermal Dysplasia 1	Inguinal hernia, Hypocalcemia, Enamel hypoplasia	OMIM:218330
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Leopard Syndrome 1	Bundle branch block, Scapular winging, Epicanthus, Hypertelorism, Complete atrioventricular canal...	OMIM:151100
Autosomal Dominant Robinow Syndrome	Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Hyperte...	ORPHA:3107
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Hypertelorism, Proptosis, Choanal...	OMIM:259775
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Malan Syndrome	Short nose, Downslanted palpebral fissures	OMIM:614753
Jaberi-Elahi Syndrome	Sparse eyebrow, Short nose, Sparse eyelashes, Depressed nasal bridge	OMIM:617988
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, ...	ORPHA:183
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Epicanthus, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Recurre...	OMIM:253220
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Hypertelorism, Shallow orbits, Long palpebral fissure, ...	OMIM:258480
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Elbow flexion co...	ORPHA:508533
Opsismodysplasia	Splenomegaly, Hepatomegaly, Short nose, Depressed nasal bridge	ORPHA:2746
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Anteverted nares, Highly arched eyebrow, Congestive heart failure, Syn...	ORPHA:444077
Marshall-Smith Syndrome	Anteverted nares, Ventricular septal defect, Choanal atresia, Depressed nasal bridge, Highly arch...	OMIM:602535
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Anteverted nares, Prominent nasal bridge, Hypertelorism, Upslanted palpebral fissure...	ORPHA:1974
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Joint hemorrhage, Epistaxis, Cerebral hemorrhage	OMIM:277450
Agel Amyloidosis	Facial palsy, Bilateral ptosis, Cardiomyopathy, Keratoconjunctivitis sicca, Blepharochalasis, Arr...	ORPHA:85448
Robinow Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hypertelori...	ORPHA:97360
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atresia, Histiocyt...	OMIM:300952
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Bulbous nose, Dilated cardiomyopathy, Increased muscle lipid content,...	OMIM:608836
Holoprosencephaly 7	Flat nasal alae, Hypertelorism, Synophrys, Absent nasal septal cartilage, Wide nasal bridge, Depr...	OMIM:610828
Lathosterolosis	Hepatomegaly, Epicanthus, Anteverted nares, Bulbous nose, Short nose, Downslanted palpebral fissu...	ORPHA:46059
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole...	OMIM:270400
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho...	ORPHA:536471
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Osteoglophonic Dysplasia	Telecanthus, Depressed nasal bridge, Anteverted nares, Choanal atresia, Camptodactyly of finger, ...	OMIM:166250
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Short nose, Anteverted nares	OMIM:103050
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Rhombencephalosynapsis	Short nose, Anteverted nares, Hypertelorism	ORPHA:59315
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly	OMIM:251000
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Hypertelorism, Proptosis, Short nose	ORPHA:93260
Stuve-Wiedemann Syndrome 1	Anteverted nares, Short palpebral fissure, Elbow flexion contracture, Knee flexion contracture, C...	OMIM:601559
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Depressed nasal ridge	OMIM:300863
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Hypertelorism, Camptodactyly, Long palpebral fissure, S...	OMIM:227330
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Flexion contracture, Proptosis, Narrow nasal ridge	OMIM:608612
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ca...	OMIM:300967
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect, Anteverted nares	OMIM:612938
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Epiblepharon, Joint contracture, Pate...	OMIM:618460
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Cutis Laxa, Autosomal Recessive, Type Iia	Downslanted palpebral fissures, Short nose, Anteverted nares	OMIM:219200
Dend Syndrome	Bilateral ptosis, Short nose, Anteverted nares	ORPHA:79134
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Marshall Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short nose	OMIM:154780
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, Long nose, Macrog...	OMIM:618143
Zttk Syndrome	Aortic regurgitation, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Sparse eyebr...	OMIM:617140
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Telecanthus, Tricuspid regurgitation, Diastasis recti, Hypertelorism, Mitra...	OMIM:601776
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:614922
Osteopetrosis, Autosomal Recessive 7	Anemia, Splenomegaly, Hypocalcemic seizures	OMIM:612301
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Hyp...	OMIM:613795
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:5
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short nose, Proptosis, Convex nasal ridge	ORPHA:90154
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy	OMIM:618839
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Epicanthus, Hypertelorism, Blepharophimosis, Wide nasal bridge, Antecubital pterygiu...	OMIM:609945
Monosomy 13Q34	Hypercalcemia, Obesity	ORPHA:96168
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Hypertelorism	OMIM:614863
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Short nose, Flexion contracture, Telangiectasia	OMIM:601675
Robinow Syndrome, Autosomal Recessive 1	Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Macroglossia, Right v...	OMIM:268310
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Depressed nasal bridge, Abnormal nasal morphology, Congestive he...	ORPHA:579
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Wide nose, Anteverted nares, Angina pectoris, Telangiectasia, Intracrani...	ORPHA:109
Microlissencephaly-Micromelia Syndrome	Short nose, Palpebral edema	ORPHA:50810
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy, Prominent nose	OMIM:616051
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly	OMIM:225750
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Depressed nasal bridge, Cardiomega...	ORPHA:79280
Degcags Syndrome	Prominent nose, Synophrys, Hypotelorism, Atrial septal defect, Diaphragmatic eventration, Patent ...	OMIM:619488
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Depressed nasal ridge	ORPHA:163966
1P21.3 Microdeletion Syndrome	Upslanted palpebral fissure, Deeply set eye, Short nose, Broad nasal tip	ORPHA:293948
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Epicanthus, Ventricular septal defect, Hypertelorism, Long eyelashes, Pulmo...	OMIM:607721
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Acrocallosal Syndrome	Epicanthus, Abnormal pulmonary valve morphology, Hypertelorism, Wide nasal bridge, Abnormal cardi...	OMIM:200990
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Meier-Gorlin Syndrome 6	Entropion, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed nasal r...	OMIM:616835
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Narrow nasal rid...	ORPHA:280365
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Robinow Syndrome, Autosomal Dominant 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Upslanted...	OMIM:180700
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Hypertelorism, Macrogl...	OMIM:269150
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Prominent nasa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Prominent nasa...	ORPHA:363958
Coffin-Lowry Syndrome	Wide nose, Telecanthus, Anteverted nares, Highly arched eyebrow, Hypertelorism, Thick nasal septu...	OMIM:303600
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Stickler Syndrome	Skeletal muscle atrophy, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Hyper...	ORPHA:828
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Anteverted nares, Wide nasal bridge, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy	OMIM:614052
Monosomy 9Q22.3	Epicanthus, Rhabdomyosarcoma, Cardiac fibroma, Short nose, Downslanted palpebral fissures	ORPHA:77301
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis, Ptosis	ORPHA:436271
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hypertelorism, Wide nasal ...	OMIM:617157
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Depressed nasal bridge, Splenomegaly, Recurrent upper resp...	OMIM:253200
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo...	ORPHA:79086
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Trichothiodystrophy	Epicanthus, Multiple joint contractures, Ventricular septal defect, Hypertelorism, Hypotelorism, ...	ORPHA:33364
Zimmermann-Laband Syndrome 1	Hepatomegaly, Highly arched eyebrow, Broad nasal tip, Splenomegaly, Synophrys, Wide nasal bridge,...	OMIM:135500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Weakness of facial musculature, Hypertro...	OMIM:220110
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Broad eyebrow, Torticollis, Ventricular septal defect, Bicuspid aortic valv...	OMIM:619475
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Hepatosplenomegaly, Cardiomyopathy, Macroglossia	ORPHA:79255
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Mucopolysaccharidosis Type 2, Severe Form	Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of...	ORPHA:217085
Acrofacial Dysostosis, Catania Type	Short nose, Downslanted palpebral fissures	ORPHA:1786
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Anteverted nares, Ventricular septal defect, Broad nasal tip, Long nose,...	OMIM:619522
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Absent eyebrow, Anteverted nares, Bulbous nose, Unilateral narrow palpebral ...	OMIM:601358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Prominent nasal bridge, Abnormal pulmonary valve...	ORPHA:268261
Mucopolysaccharidosis Type 2	Hepatomegaly, Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Sp...	ORPHA:580
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Enthesitis, Hypophosphatemic rickets, Hypocalcemic tetany, Tooth abscess	ORPHA:289176
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Atrial septal defect, Hepatomegaly, Anteverted nares, Depressed ...	OMIM:312870
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of...	ORPHA:217093
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count...	ORPHA:797
Micro Syndrome	Short nose, Anteverted nares, Wide nasal bridge	ORPHA:2510
Lathosterolosis	Epicanthus, Anteverted nares, Wide nasal bridge, Hepatosplenomegaly, Short nose, Downslanted palp...	OMIM:607330
Rabson-Mendenhall Syndrome	Wide nose, Enlarged ovaries, Anteverted nares, Ventricular septal defect, Prominent nasal bridge,...	ORPHA:769
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Epicanthus, Hypertelorism, Epicanthus inversus, Upslanted palpebral fi...	OMIM:618820
Parathyroid Carcinoma	Hypercalcemia, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:143
Charge Syndrome	Omphalocele, Umbilical hernia, Lymphopenia, Hypocalcemia	OMIM:214800
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spl...	OMIM:619534
Blomstrand Lethal Chondrodysplasia	Telecanthus, Depressed nasal bridge, Anteverted nares, Proptosis, Short nose	ORPHA:50945
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Mitral valve ...	ORPHA:536467
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Short nose, Ectropion	ORPHA:2719
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Prominent nose, Cardiomegaly, Macroglossia, Shallow orbits	ORPHA:96191
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Obesity	ORPHA:369837
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:157
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Hypocalcemia	OMIM:620330
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Yunis-Varon Syndrome	Narrow nasal base, Ventricular septal defect, Anteverted nares, Sparse eyelashes, Cardiomegaly, H...	ORPHA:3472
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Pallister-Hall Syndrome	Anteverted nares, Ventricular septal defect, Choanal atresia, Depressed nasal bridge, Short nose	OMIM:146510
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Depressed nasal bridge, Sparse eyelashes, Underdeveloped nasal alae, Absent eyela...	OMIM:305100
Deeah Syndrome	Hepatomegaly, Epicanthus, Decreased heart rate variability, Prominent nasal tip, Short nose, Shor...	OMIM:619004
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Wide nose, Epicanthus, Depressed nasal bridge, Prominent nasal bri...	OMIM:613406
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Cardiomyopathy	ORPHA:264580
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Depressed nasal bridge, Anteverted nares, Hypertelorism, Bulbous nose, Short nose	OMIM:271510
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Hypercalcemia, Chondrocalcinosis, Hypophosphatemia	ORPHA:99880
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Hypercalcemia, Weight loss	ORPHA:913
Cadds	Short nose	ORPHA:369942
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Costello Syndrome	Epicanthus, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Rhabdomyosarcoma...	OMIM:218040
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy	ORPHA:95
Mucopolysaccharidosis Type 3	Hepatomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Synophrys, Flexion contracture, Atrioventr...	ORPHA:581
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Tricuspid regurgitation, Abnormal nasolacrimal system morphology, Congenital diaphragm...	ORPHA:2556
Schneckenbecken Dysplasia	Short nose	OMIM:269250
Atelosteogenesis, Type I	Short nose, Proptosis, Depressed nasal bridge, Hypertelorism	OMIM:108720
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Short nose, Anteverted nares, Depressed nasal bridge	OMIM:200600
Johanson-Blizzard Syndrome	Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi...	OMIM:243800
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Long eyelashes, Epistaxis	ORPHA:79430
Ppoma	Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97278
Pheochromocytoma	Hypercalcemia	OMIM:171300
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ptosis	ORPHA:2609
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Eyel...	ORPHA:51
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Cardiomyopathy	OMIM:616084
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Hepatomegaly, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly...	ORPHA:17
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Depressed nasal ridge, Deeply set eye, Atrial septal defect, Pa...	OMIM:607872
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Flexion contracture, Deeply set eye, Short nose, Convex nasal ridge	OMIM:619321
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Prominent nose, Cardiomegaly, Con...	OMIM:256040
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Thin eyebrow, Abnormal T-wave, ...	ORPHA:2131
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Short nose, Hypomimic face	OMIM:617527
Fanconi Anemia	Epicanthus, Choanal atresia, Hypertelorism, Almond-shaped palpebral fissure, Abnormal eyelid morp...	ORPHA:84
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Spondylocarpotarsal Synostosis Syndrome	Scapular winging, Anteverted nares, Hypertelorism, Broad nasal tip, Short nose	OMIM:272460
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Hypertelorism	OMIM:252160
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Ante...	OMIM:194050
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Telecanthus, Depressed nasal bridge, Choanal atresia, Prominent nose, Flared nostrils, Wide nasal...	ORPHA:480880
Schinzel-Giedion Syndrome	Broad nasal tip, Hypertelorism, Abnormal heart morphology, Shallow orbits, Macroglossia, Proptosi...	ORPHA:798
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Short nose, Limb hypertonia	ORPHA:521426
Peters Plus Syndrome	Anteverted nares, Depressed nasal bridge, Hypertelorism, Bicuspid pulmonary valve, Upslanted palp...	ORPHA:709
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Hypertelorism	OMIM:252150
Cornelia De Lange Syndrome	Anteverted nares, Ventricular septal defect, Choanal atresia, Depressed nasal bridge, Congenital ...	ORPHA:199
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Transient ischemic attack, Sparse eyebrow, Wide nasal bridge,...	ORPHA:500150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Enlarged polycystic ovaries, Bulbous nose, Flexion contr...	ORPHA:95699
Grfoma	Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97261
Femoral-Facial Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Upslanted palpebral fissure, Pulmonic steno...	OMIM:134780
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Recurrent upp...	ORPHA:95430
Hereditary Spherocytosis	Splenomegaly, Restrictive cardiomyopathy, Hepatomegaly	ORPHA:822
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Ventricular septal defect, Hypertelorism, Abnormal heart morphology, Mitral valve pro...	ORPHA:363700
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Orofaciodigital Syndrome Type 4	Wide nose, Camptodactyly of finger, Choanal atresia, Hypertelorism, Depressed nasal ridge, Propto...	ORPHA:2753
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Wide nose, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Anteverte...	ORPHA:96334
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Elbow flexion contracture, Knee fle...	OMIM:271665
Pmm2-Cdg	Multiple joint contractures, Lipodystrophy, Reduced thyroxin-binding globulin, Abnormal subcutane...	ORPHA:79318
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Tricuspid regurgitation, Noncompaction cardiomyopathy, Recurrent upper respiratory tract infectio...	ORPHA:508542
C Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Aplasia/Hy...	ORPHA:1308
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Hypercalcemia	ORPHA:653
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Pallister-Hall Syndrome	Ventricular septal defect, Choanal atresia, Anteverted nares, Hypertelorism, Depressed nasal ridg...	ORPHA:672
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Subcutaneous lipoma	ORPHA:276152
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
17Q11 Microdeletion Syndrome	Depressed nasal bridge, Telangiectasia of the skin, Rhabdomyosarcoma, Hypertelorism, Renovascular...	ORPHA:97685
Aspartylglucosaminuria	Hepatomegaly, Hypertelorism, Splenomegaly, Wide nasal bridge, Macroglossia, Short nose	ORPHA:93
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Wide nose, Hepatomegaly, Hypertelorism, Hypertrophic c...	ORPHA:508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face	ORPHA:309854
Noonan Syndrome 1	Epicanthus, Ventricular septal defect, Hypertelorism, Pulmonic stenosis, Atrial septal defect, Hy...	OMIM:163950
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Con...	OMIM:601803
Multiple Endocrine Neoplasia Type 1	Multiple lipomas, Hypercalcemia, Weight loss	ORPHA:652
Postinfectious Vasculitis	Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti...	ORPHA:48435
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Penile Agenesis	Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Short nose	ORPHA:49
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hematochezia, Hyperten...	OMIM:615846
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Enl...	OMIM:276700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy	OMIM:616539
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly	OMIM:608594
Acromegaly	Wide nose, Palpebral edema, Synophrys, Macroglossia, Hypertension, Mitral regurgitation, Hypertro...	ORPHA:963
Somatomammotropinoma	Wide nose, Palpebral edema, Synophrys, Macroglossia, Hypertension, Mitral regurgitation, Hypertro...	ORPHA:314769
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Narrow nasal ridge, Hypertension, Pulmonary arterial hypertension, Short...	OMIM:606721
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Proptosis, Hypertrophic cardio...	ORPHA:1328
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Castleman Disease	Restrictive cardiomyopathy	ORPHA:160
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Ptosis	OMIM:124000
Sponastrime Dysplasia	Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Epicanthus, Hypop...	ORPHA:93357
Sotos Syndrome	Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Bilateral camptodacty...	ORPHA:821
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert...	OMIM:269700
Phocomelia, Schinzel Type	Short nose	ORPHA:2879
Yunis-Varon Syndrome	Epicanthus, Ventricular septal defect, Anteverted nares, Sparse eyelashes, Hypertelorism, Sparse ...	OMIM:216340
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608

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 Rreb1

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 Rreb1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The transcription factor Rreb1 regulates epithelial architecture, invasiveness, and vasculogenesis in early mouse embryos.	eLife (April 2021)	Rreb1^{tm1a(EUCOMM)Wtsi}	PMC8131102
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Rreb1^{tm1b(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Rreb1^{tm1b(EUCOMM)Wtsi} Rreb1^{tm1b(EUCOMM)Wtsi}	PMC6671969

Order Mouse and ES Cells

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
Rreb1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Rreb1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Rreb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rreb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rreb1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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