Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ep300 MGI:1276116

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

E1A binding protein p300

Synonyms:

KAT3B, p300

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ep300 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 Ep300 (4 diseases)
Human diseases predicted to be associated with Ep300 (2296 diseases)

The table below shows human diseases associated to Ep300 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Pneumonia, Narrow palate, Gastroesophageal reflux, Abnormal heart morpholo...	ORPHA:353284
Rubinstein-Taybi Syndrome 2	Intestinal malrotation, Narrow palate, High palate	OMIM:613684
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma	OMIM:114500
Menke-Hennekam Syndrome 2	Recurrent upper respiratory tract infections, Duodenal ulcer	OMIM:618333

The table below shows human diseases predicted to be associated to Ep300 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at...	OMIM:616867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Respiratory insufficien...	OMIM:618654
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:301075
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Ascites, Oligohydramnios, Death in infancy, Neonatal death, Perimembr...	OMIM:608104
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Nemaline Myopathy 9	Nemaline bodies, Respiratory insufficiency, Ventricular septal defect, Polyhydramnios, High palat...	OMIM:615731
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis	OMIM:604416
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respira...	OMIM:300696
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def...	OMIM:619170
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Neuromus...	ORPHA:171442
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Polyhydramnios, Flexion contracture, Fa...	OMIM:615348
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator...	OMIM:300580
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Meckel diverticulum, Abnormal heart morphology, Partial diaphragma...	ORPHA:2847
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Neuromuscular dysphagia, Cardiom...	ORPHA:171439
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Nephronophthisis	Anemia	ORPHA:655
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Camptodactyly of finger,...	OMIM:614399
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis...	ORPHA:2302
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec...	OMIM:616866
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive heart failure	ORPHA:91130
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Neonatal death,...	OMIM:615524
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Megaduodenum, Perimemb...	OMIM:611376
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular septal defect, Peri...	ORPHA:363444
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo...	ORPHA:1209
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect, Bradycardia, Respirator...	OMIM:616277
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Respiratory insufficiency due to muscle weakness,...	OMIM:616816
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, High...	OMIM:618804
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Death in infancy, Villous atrophy, Dehydration	OMIM:251850
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effu...	ORPHA:2414
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Respiratory failure, Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Congenital Atransferrinemia	Anemia	ORPHA:1195
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy...	ORPHA:352447
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Erythema, ...	ORPHA:449285
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Perimembranous...	OMIM:600987
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia	OMIM:620400
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory insufficiency, Ty...	OMIM:255310
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage,...	ORPHA:335
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Aspl...	OMIM:614034
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Intermediate Nemaline Myopathy	High, narrow palate, Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fib...	ORPHA:171433
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, Respiratory insufficiency, EMG: myopathi...	ORPHA:171445
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Indomethacin Embryofetopathy	Cardiomyopathy, Respiratory insufficiency, Oligohydramnios, Ventricular septal defect, Atrial sep...	ORPHA:1909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right v...	OMIM:253700
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Rectus femoris muscle atrophy, High palate, Muscu...	ORPHA:98905
Microphthalmia/Coloboma 5	Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Ethanolaminosis	Cardiomegaly	OMIM:227150
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ...	OMIM:249670
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, High palate	OMIM:618205
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Respiratory failure requiring assisted ventilation, Abnormal tricuspid v...	ORPHA:555874
Congenital Disorder Of Glycosylation, Type Iie	Neonatal asphyxia, Gastroesophageal reflux, Secundum atrial septal defect, Skeletal muscle atroph...	OMIM:608779
Congenital Disorder Of Glycosylation, Type Il	Ascites, Villous atrophy, Atrial septal defect, Pericardial effusion, Hydrops fetalis	OMIM:608776
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Alg1-Cdg	Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Abnormality of the gastroi...	ORPHA:79327
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an...	ORPHA:444463
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Congenital Myopathy 11	Neonatal respiratory distress, Patent foramen ovale, Weakness of facial musculature, Atrial septa...	OMIM:619967
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Cardiorespiratory arrest, ...	OMIM:619424
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m...	ORPHA:1354
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Generalized edema, Intestinal lymphangiectasia,...	ORPHA:90362
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Re...	OMIM:619042
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Limb muscle weakness, High palate, Dysphagia, Mus...	OMIM:256030
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Perching Syndrome	Cyanosis, Joint contracture, Camptodactyly, High palate, Dysphagia	OMIM:617055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi...	ORPHA:353
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertr...	OMIM:263000
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Secundum atrial septal defec...	ORPHA:2257
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Respiratory insufficiency, Situs inversus totalis, Patent foramen ovale, Car...	OMIM:620642
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly...	ORPHA:370968
Eng-Strom Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Glossoptosis, Death in infancy, Ventricular septal defect	OMIM:614876
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Oligohydramnios, ...	ORPHA:1194
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Death in infancy, Polyhydramnios, Dysphagia, Respiratory failure	OMIM:225753
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Respiratory insufficiency, Hypertrophic cardiomyopathy, Ventricular septa...	OMIM:616276
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv...	OMIM:619445
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Neonatal respiratory distress, Gastroesophageal reflux, Skeletal ...	ORPHA:70
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe...	OMIM:617228
Catel-Manzke Syndrome	Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Glossoptosis, Cleft palate	ORPHA:1388
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent duc...	ORPHA:980
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle...	OMIM:611890
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:237800
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne...	OMIM:620249
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur...	ORPHA:90308
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Dysphagia, Respirat...	ORPHA:90117
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Tet...	OMIM:600001
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of fa...	ORPHA:254875
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur...	OMIM:310200
Neuralgic Amyotrophy	Bifid uvula, Upper limb muscle weakness, Respiratory insufficiency, Scapular winging, Acrocyanosi...	ORPHA:2901
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart mo...	ORPHA:70472
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Respiratory failure, Lipoid pneumonia, EMG: myopathic abnormalities	OMIM:620326
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Anal atresia, Respiratory failure	OMIM:276950
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Adams-Oliver Syndrome 4	Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Double Outlet Right Ventricle	Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Intestinal malrotation, He...	ORPHA:3426
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Weakness of facial musculature	OMIM:618637
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Steatorrhea, Villous atrophy, Death in childhood, Death in infancy, Nonimmune hyd...	OMIM:212065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Limb muscle weakness, Respiratory failure, Hand muscle atrophy	OMIM:600561
Feingold Syndrome 2	Intestinal atresia, Ventricular septal defect	OMIM:614326
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula...	ORPHA:444013
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Congenital Herpes Simplex Virus Infection	Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory tract infection...	ORPHA:308552
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Cantu Syndrome	Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao...	OMIM:239850
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Type 1 fib...	ORPHA:596
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Abnormal pericardium morphology, Gast...	ORPHA:679
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc...	OMIM:620278
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Perimembranous ventricular septal ...	OMIM:158170
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	ORPHA:75840
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Cardiomyopathy, Dilated, 2H	Cardiorespiratory arrest, Secundum atrial septal defect, Muscular ventricular septal defect, Redu...	OMIM:620203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Immunodeficiency 95	Lymphopenia	OMIM:619773
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Serkal Syndrome	Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal ...	ORPHA:139466
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillbirth, Polyh...	OMIM:614922
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Recurrent aspiratio...	ORPHA:2590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Congenital Tracheal Stenosis	Hypoplastic left heart, Neonatal asphyxia, Fetal ascites, Meckel diverticulum, Duodenal atresia, ...	ORPHA:141127
Prune Belly Syndrome	Volvulus, Recurrent respiratory infections, Tetralogy of Fallot, Intestinal malrotation, Oligohyd...	ORPHA:2970
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Bronchitis, Respiratory failure, Pulmonary fibrosis, Pleu...	ORPHA:449280
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Congenital Tracheomalacia	Ventricular septal defect, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Gast...	ORPHA:95430
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Thrombocytosis	OMIM:226300
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial...	OMIM:613870
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Respiratory insufficiency, Type 1 muscle fiber pr...	OMIM:160565
Cap Myopathy	Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi...	ORPHA:171881
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Ab...	ORPHA:244
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Halperin-Birk Syndrome	Gastroesophageal reflux, Pseudobulbar paralysis, Congenital diaphragmatic hernia, Death in childh...	OMIM:618651
Gombo Syndrome	Microphthalmia	OMIM:233270
Criss-Cross Heart	Respiratory insufficiency, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve ...	ORPHA:1461
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Bivent...	OMIM:619573
Xk Aprosencephaly Syndrome	Polyhydramnios, Anal atresia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ...	OMIM:265380
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth	OMIM:152800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory insufficiency	ORPHA:238329
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Respiratory insuf...	ORPHA:1120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Microphthalmia	ORPHA:324416
Severe Congenital Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Edem...	ORPHA:171430
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Autoinflammation With Infantile Enterocolitis	Diffuse alveolar hemorrhage, Villous atrophy, Enterocolitis, Urticaria	OMIM:616050
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Pyloric stenosis, Upper limb mus...	OMIM:616924
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Villous atrophy, High palate, Flexion contracture, Ar...	OMIM:601110
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Heterotaxy, Visceral, 7, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pulmonary artery atresia, M...	OMIM:616749
Meckel Syndrome, Type 8	Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney	OMIM:613885
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Gastroesophageal reflux, Cardiomyopathy, Absent muscle fiber merosin, Atelect...	ORPHA:258
Joubert Syndrome 15	Exencephaly	OMIM:614464
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho...	OMIM:243150
Alg9-Cdg	Bifid uvula, Hypoplasia of the musculature, Gastroesophageal reflux, Abnormal lung lobation, Tric...	ORPHA:79328
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot...	OMIM:615779
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyopathy, Abnor...	ORPHA:183
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Hyperekplexia 4	Distal arthrogryposis, High palate, Camptodactyly, Flexion contracture, Respiratory failure	OMIM:618011
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Congenital Fiber-Type Disproportion Myopathy	Hypoplasia of the musculature, Aspiration pneumonia, Hip contracture, Flexion contracture of fing...	ORPHA:2020
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Abnormal bleeding, Gastrointestinal infarctions, Transient isc...	ORPHA:2038
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy	OMIM:616471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f...	OMIM:258450
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Intestinal malrotation, Truncus arteriosus, Ventricular septal defect,...	ORPHA:401935
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Gastroesophageal reflux, Respiratory insufficiency, Facial diplegia, High palate, ...	OMIM:618186
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy	OMIM:619386
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, P...	OMIM:615355
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Respiratory insufficiency, Rhabdomyolysis, Myop...	OMIM:609015
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defe...	OMIM:212093
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat...	ORPHA:363705
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial...	ORPHA:185
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Respiratory insufficiency, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality of t...	ORPHA:1166
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Myocardial infarction, C...	ORPHA:132
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Anal atresia, Atrial sep...	OMIM:612946
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
Syndromic Diarrhea	Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Abnormal bleeding, Villous atrophy, Death in childhood, Steatorrhea, ...	OMIM:602579
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ...	OMIM:618278
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Central...	OMIM:620067
Lactose Intolerance, Adult Type	Decreased small intestinal mucosa lactase level	OMIM:223100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Cardiomegaly, Camptodactyly of toe, Fragile s...	ORPHA:158687
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, High palate, Atrial septal defect, Contracture of the p...	OMIM:620662
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Diarrhea 9	Villous atrophy	OMIM:618168
Structural Heart Defects And Renal Anomalies Syndrome	Generalized edema, Tetralogy of Fallot, Cyanosis, Death in infancy, Truncus arteriosus, Ventricul...	OMIM:617478
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Ogden Syndrome	Facial wrinkling, Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventr...	OMIM:300855
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In...	ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Li-Campeau Syndrome	Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, Atrial septal defe...	OMIM:619189
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin...	OMIM:612949
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora...	ORPHA:199241
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cyanosis, Overriding aorta, Double outlet right ventricle, Atrial septal def...	ORPHA:3304
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Death in childhood, Ventricular septal defect	OMIM:613759
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra...	ORPHA:99104
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abno...	ORPHA:26791
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Respiratory insufficiency, Ab...	ORPHA:1759
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Re...	ORPHA:746
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Secondary Short Bowel Syndrome	Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte...	ORPHA:95427
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,...	ORPHA:99050
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Transaldolase Deficiency	Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrop...	ORPHA:101028
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Situs inversus totalis, Recurrent sinusitis, ...	OMIM:608647
Chromosome 15Q14 Deletion Syndrome	Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul...	OMIM:616898
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial...	OMIM:300887
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:620246
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M...	OMIM:604377
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy...	ORPHA:119
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Netherton Syndrome	Angioedema, Hypernatremic dehydration, Villous atrophy, Recurrent infection of the gastrointestin...	OMIM:256500
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Death in child...	OMIM:245400
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal de...	OMIM:618624
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect	OMIM:618330
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ...	ORPHA:210122
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Congestive heart failure, Polyhydramnios, Atrial septal defect, Facial hyp...	ORPHA:500533
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis, Respiratory fail...	ORPHA:88618
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly, Microphthalmia	ORPHA:2117
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred...	OMIM:620161
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Bone Marrow Failure Syndrome 4	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:618116
Fumarase Deficiency	Ascites, Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect, Polyhydra...	OMIM:606812
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Patent foramen ovale, Bradycardia	OMIM:617182
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Immunodeficiency 44	Lymphopenia	OMIM:616636
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Polyhydramnio...	ORPHA:3405
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Nephronophthisis 2	Respiratory insufficiency, Oligohydramnios, Situs inversus totalis, Pulmonary insufficiency, Hype...	OMIM:602088
14Q11.2 Microdeletion Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint contracture, Respiratory ...	OMIM:620327
Emanuel Syndrome	Aortic valve stenosis, Gastroesophageal reflux, Intestinal malrotation, Oligohydramnios, Congenit...	OMIM:609029
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Systemic Sclerosis	Intestinal bleeding, Telangiectasia, Dysphagia, Gastroesophageal reflux, Right ventricular failur...	ORPHA:90291
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow palate, Oligohydramnios, Ventricular septa...	OMIM:617022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Truncus Arteriosus	Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arte...	ORPHA:3384
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Polyhydramnios, High palate, Arthrogryposis multiplex congenita, Respi...	OMIM:615330
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Bifid uvula, Tetralogy of Fallot, Villous atrophy, Ventricular septal defec...	OMIM:222470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Microvillus Inclusion Disease	Abnormal small intestinal villus morphology, Villous atrophy, Dehydration, Hypovolemia	ORPHA:2290
Chromosome 5Q12 Deletion Syndrome	Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri...	OMIM:615668
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Anteriorly placed anus, Exercise-induc...	ORPHA:26793
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, ...	OMIM:608836
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Pulmonary hypoplasia, Agenesis of pulmonary vessels, Respiratory insuffi...	OMIM:601186
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Tetralogy of Fallot, Mitral regurgitation, Mitral valve pro...	OMIM:612561
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anenc...	OMIM:611134
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Respiratory insufficiency, Cyanosis, Rhabdomyolysis, Arrhythmia, Ven...	ORPHA:159
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epistaxis, Gastrointestinal hemorrhage, Poor wound healing, Post-partum hemorrhage, Prolonged ble...	ORPHA:465
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency	OMIM:313420
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory insufficiency, Ty...	OMIM:254090
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,...	OMIM:614299
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:616570
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:613204
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Respiratory insufficiency, Cere...	ORPHA:1880
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Humero-Radial Synostosis	Meningocele, Aplasia/Hypoplasia affecting the eye	ORPHA:3265
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Protruding tongue, Ventricular septal defect, Perimembranous ventricular...	OMIM:301040
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect	ORPHA:228399
Pontocerebellar Hypoplasia, Type 17	Gastroesophageal reflux, Secundum atrial septal defect, Respiratory insufficiency, Ventricular se...	OMIM:619909
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, Gastrointestinal dysmotility, Dysphagia	ORPHA:391428
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Resp...	ORPHA:70587
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe...	OMIM:620070
Meacham Syndrome	Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept...	OMIM:608978
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal...	ORPHA:36412
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhy...	OMIM:249270
Esophageal Atresia	Pyloric stenosis, Barrett esophagus, Gastroesophageal reflux, Gastrointestinal carcinoma, Bronchi...	ORPHA:1199
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ...	OMIM:615996
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia	ORPHA:141333
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac...	OMIM:619167
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Villous atrophy, Perioral erythema, Duodenitis	OMIM:614328
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly	OMIM:620282
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis	ORPHA:729
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Recurrent upper respiratory tract infections, Congestive heart failure, Vil...	ORPHA:391487
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Double Outlet Left Ventricle	Cyanosis, Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid ...	ORPHA:3427
Nanophthalmos	Microphthalmia	ORPHA:35612
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy	ORPHA:100024
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han...	ORPHA:536516
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo...	ORPHA:92050
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnorm...	ORPHA:79083
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotation, Pat...	OMIM:618316
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Abnormal heart morphology, Joint contractu...	ORPHA:352490
Mulibrey Nanism	Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, P...	OMIM:253250
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Portal hyper...	OMIM:619487
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Tricuspid regurgitation, Increased nuchal translucency, Patent for...	OMIM:618870
Lessel-Kreienkamp Syndrome	Gastroesophageal reflux, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Paten...	OMIM:619149
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G...	OMIM:615156
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Heart murmur, Pneumonia, Acrocyanosis	ORPHA:1867
Waardenburg Syndrome Type 3	Acrocyanosis, Atrial septal defect, Atelectasis, Camptodactyly of finger	ORPHA:896
Juvenile Polyposis Of Infancy	High, narrow palate, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Protein-losi...	ORPHA:79076
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Respiratory insufficie...	OMIM:618291
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Truncus arteriosus, Ventricular se...	OMIM:616589
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Lower limb muscle weakness, Atelectasis, Hypertrophic cardiomyopathy, R...	ORPHA:365
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop...	ORPHA:292
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Edema, Cardiomyopathy, Ascites, Portal hypertension, Bradycardia, Polyhy...	OMIM:232500
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Muscular dystrophy...	OMIM:226670
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Death in childhood, Weakness of facial musculature, Increased intram...	OMIM:220110
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ...	OMIM:601927
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Death in inf...	OMIM:208085
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Gastroesophageal reflux, Muscle fiber atro...	ORPHA:98914
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Gastroesophageal reflux, Muscle fiber atro...	ORPHA:590
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Cleft palate, Ventricular septal defect	ORPHA:94066
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death ...	OMIM:610505
Lethal Osteosclerotic Bone Dysplasia	Median cleft palate, Respiratory failure	ORPHA:1832
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Abnormal heart morphology, Camptodactyly of toe, Atrial septal def...	OMIM:175700
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia, Respiratory failure, Ventricular septal defect	OMIM:617895
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia...	OMIM:235700
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Hypertension, Reduced subcutaneous adipose tissue, Myopathy	ORPHA:363400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate	ORPHA:2345
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Gastroesophageal reflux, Tetr...	ORPHA:7
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Gastroesophageal reflux, Cardiorespiratory arrest, Congestive heart failu...	ORPHA:3342
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Temple-Baraitser Syndrome	Gastroesophageal reflux, Atrial septal defect, Pulmonic stenosis	OMIM:611816
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Leukopenia, Leukocytosis, Thrombocytosis	ORPHA:20
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis	ORPHA:134
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat...	OMIM:607459
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Atrial septal defect, Polyhydramni...	OMIM:615102
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Poor wound healing, Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve pr...	OMIM:615539
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ...	OMIM:618494
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Orthostatic Hypotension 2	Anemia	OMIM:618182
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f...	ORPHA:2348
Meckel Syndrome 14	Cardiorespiratory arrest, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency...	OMIM:619879
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Patent foramen ovale, Ventricular septal defe...	ORPHA:209905
Kagami-Ogata Syndrome	Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect...	OMIM:608149
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect	OMIM:263630
Nanophthalmos 4	Microphthalmia	OMIM:615972
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617072
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Even-Plus Syndrome	Oligohydramnios, Patent foramen ovale, Atrial septal defect, High palate, Anal atresia	OMIM:616854
Coffin-Siris Syndrome 6	High, narrow palate, Gastroesophageal reflux, Atrial septal defect, Cleft palate, Diaphragmatic e...	OMIM:617808
Seizures-Scoliosis-Macrocephaly Syndrome	Polyhydramnios, Gastroesophageal reflux, Atrial septal defect	ORPHA:466926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo...	OMIM:619767
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis	OMIM:615486
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:2905
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Respiratory insufficiency, Facia...	ORPHA:171436
Atelis Syndrome 1	High palate, Bronchiectasis, Atrial septal defect, Ventricular septal defect	OMIM:620184
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio...	OMIM:616564
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Gastroesophageal reflux, Ventr...	OMIM:619769
Necrotizing Enterocolitis	Hypotension, Shock, Abnormal heart morphology, Ascites, Cyanosis, Bradycardia, Edema	ORPHA:391673
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Abnor...	ORPHA:2032
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Avian Influenza	Pneumonia, Congestive heart failure, Pleural effusion, Rhabdomyolysis, Pneumothorax, Respiratory ...	ORPHA:454836
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect	OMIM:617744
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven...	ORPHA:508498
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Joint contracture of the hand, Narrow palate, Periorbital edema, Inte...	OMIM:235510
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Situs inversus totalis, Chronic bronchitis, Ventricular septal defect,...	OMIM:616037
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:261243
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S...	OMIM:604320
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho...	OMIM:620609
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, V...	OMIM:121050
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Hepatic Veno-Occlusive Disease	Ascites, Jaundice, Respiratory failure	ORPHA:890
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, ...	OMIM:300963
Congenital Rubella Syndrome	Abnormality of the pulmonary artery, Ventricular septal defect, Atrial septal defect, Jaundice, P...	ORPHA:290
Cooper-Jabs Syndrome	Anteriorly placed anus, Respiratory insufficiency, Camptodactyly of finger, Congenital diaphragma...	ORPHA:1488
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Recurrent respiratory infections, Pulmonary fibrosis	OMIM:619510
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
17Q12 Microduplication Syndrome	Polyhydramnios, Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation...	OMIM:610978
Schuurs-Hoeijmakers Syndrome	Volvulus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology, Patent...	OMIM:615009
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Dilated cardiomyopa...	OMIM:164310
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Emanuel Syndrome	Aortic valve stenosis, Bifid uvula, Gastroesophageal reflux, Oligohydramnios, Congenital diaphrag...	ORPHA:96170
Thanatophoric Dysplasia	Respiratory insufficiency, Increased nuchal translucency, Atrial septal defect, Polyhydramnios, P...	ORPHA:2655
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Dysphagia, Impaired oral bolus formation	OMIM:617235
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Donnai-Barrow Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Abnormal bleeding, Death in infancy, Ventricular septal defe...	OMIM:614576
Right Atrial Isomerism	Total anomalous pulmonary venous return, Pulmonary artery atresia, Abnormal lung lobation, Tetral...	OMIM:208530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Holt-Oram Syndrome	Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Si...	OMIM:142900
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Ascites	ORPHA:858
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Spherocytosis, Type 4	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:612653
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa...	ORPHA:1913
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:70595
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Thanatophoric Dysplasia Type 2	Respiratory insufficiency, Increased nuchal translucency, Atrial septal defect, Aplasia/Hypoplasi...	ORPHA:93274
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Atrial septal defect, High palate, Hypoplastic right heart, Patent duc...	OMIM:618142
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Villous ...	OMIM:614700
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Developmental And Epileptic Encephalopathy 90	Limb hypertonia, Atrial septal defect	OMIM:301058
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re...	ORPHA:57777
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr...	OMIM:606071
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect	OMIM:615476
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure requirin...	OMIM:619026
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Respiratory insufficiency, Ascites, Pleural effusion, Bradycardia,...	OMIM:617397
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Immunodeficiency 31C	Protein-losing enteropathy, Skeletal muscle atrophy, Villous atrophy, Recurrent respiratory infec...	OMIM:614162
Bone Dysplasia, Lethal Holmgren Type	Respiratory insufficiency, Hypertrophic cardiomyopathy, Atrial septal defect, Recurrent respirato...	ORPHA:1842
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Jansen-De Vries Syndrome	Bicuspid aortic valve, Gastroesophageal reflux, Central diaphragmatic hernia, Ventricular septal ...	OMIM:617450
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Trichohepatoenteric Syndrome 2	Colitis, Villous atrophy	OMIM:614602
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
3P25.3 Microdeletion Syndrome	High, narrow palate, Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect...	ORPHA:435638
Frontoocular Syndrome	High palate, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Dysphagia, Ventricular septal defect	OMIM:619083
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Poor wound healing, Bruising susceptibility, Tricuspid regurgitation, Abnor...	ORPHA:230851
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect	OMIM:614526
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Burn-Mckeown Syndrome	Bifid uvula, Ventricular septal defect, Atrial septal defect, Hypomimic face, Cleft palate	OMIM:608572
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Shock, Abnormal pulmonary interstitial morphology, Respir...	ORPHA:178320
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co...	ORPHA:88630
Poliomyelitis	Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim...	ORPHA:2912
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Congestive heart failure, Respiratory insufficiency, Oligohydramnios, My...	OMIM:615512
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial...	OMIM:605711
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect, Cleft...	ORPHA:2516
Dextrocardia	Meckel diverticulum, Abnormal EKG, Abnormal heart morphology, Abnormal lung lobation, Intestinal ...	ORPHA:1666
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ...	ORPHA:392
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Lymphedema, Ascites, Death in infancy, Ventricular septal defect, Pul...	OMIM:235255
Multiple Intestinal Atresia	Polyhydramnios, Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure	ORPHA:2254
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Respiratory insufficiency, Ascites, Oligohydramnios, Ventri...	OMIM:617021
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Atrial septal defect, Cleft palate	ORPHA:93946
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, High, narrow palate, Recurrent upper respiratory tract infections, Gastro...	OMIM:180849
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Dysphagia, Hypoglycosylation of alpha-dystroglycan	OMIM:620166
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Res...	OMIM:252010
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ventricular hypertro...	OMIM:614261
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt...	OMIM:619051
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Polyhydramnios, Atrial septal defect	OMIM:611087
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, High palate	OMIM:617915
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Gastroesophageal reflux, Intestinal malrotation, Ventricular septa...	ORPHA:457193
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Cleft palate, Ventricular septal defect	OMIM:147800
Neuraminidase Deficiency	Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepat...	OMIM:256550
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Respiratory insufficiency, Myositis, Pulmonary arterial hyperte...	ORPHA:81
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Prolonged bleeding time, Biventricular hypert...	OMIM:618280
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Atrial septal defect, Cleft palate	OMIM:615502
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec...	OMIM:603387
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, High palate, Flexion contract...	OMIM:616470
Tetrasomy 5P	Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the ab...	ORPHA:3309
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Developmental And Epileptic Encephalopathy 102	Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect	OMIM:619881
Oslam Syndrome	Anemia	OMIM:165660
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Congenital Heart Defects And Skeletal Malformations Syndrome	Intestinal malrotation, Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defe...	OMIM:617602
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Skeletal muscle atrophy, Achalasia	ORPHA:2400
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Recurrent upper respiratory tract infections, Protein-losing enteropathy, Anasarca,...	OMIM:618183
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Esophageal varix, Right atrial enlargement...	OMIM:616028
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea...	OMIM:619657
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Genitopalatocardiac Syndrome	Cleft palate, Transposition of the great arteries, Double outlet right ventricle, Ventricular sep...	OMIM:231060
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Lambert Syndrome	Jaundice, Ventricular septal defect	ORPHA:1296
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Pleural effusion, Respiratory failure, Pneumothorax, Acute infecti...	ORPHA:36238
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Idiopathic Hypereosinophilic Syndrome	Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinop...	ORPHA:3260
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema	ORPHA:93552
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio	OMIM:618048
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Flexion contracture, Distal amyotrophy, Respiratory failure	OMIM:616505
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Anteriorly placed anus, Tricuspid regurgitation, Mitral valve prolapse, Dysp...	OMIM:612863
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicusp...	OMIM:612474
Tarp Syndrome	Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Oligohydramnios, Neonatal death, A...	OMIM:311900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hyperparathyroidism	ORPHA:2668
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasi...	OMIM:616843
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect	OMIM:314320
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Gastroesophageal reflux, Ventricular septal defect, Recurrent aspi...	ORPHA:79243
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Refractory Celiac Disease	Protein-losing enteropathy, Villous atrophy, Jejunitis	ORPHA:398063
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal...	ORPHA:1425
Spinocerebellar Ataxia Type 1	Abnormality of masticatory muscle, Respiratory failure, Skeletal muscle atrophy, Dysphagia	ORPHA:98755
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Kapur-Toriello Syndrome	Joint contracture of the hand, Camptodactyly of finger, Intestinal malrotation, Ventricular septa...	OMIM:244300
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia	OMIM:616171
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t...	ORPHA:457279
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Tongue atrophy, Skeletal muscle atrophy, Upper limb muscle w...	ORPHA:803
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Diastasis recti, Polyhydramnios, Ventricular septal defect	ORPHA:254534
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect	ORPHA:3369
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent sinusitis, Atrial septal defect, High palate, Recurrent respirator...	OMIM:618282
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:329224
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Abnormal blood gas level, Respiratory...	ORPHA:70578
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Villous atrophy, Ileoileal intussusception, Prolonged neonatal...	OMIM:619377
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Atrioventricular canal defect,...	OMIM:613751
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot...	ORPHA:3097
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Bruising susceptibility, Recurrent respiratory infections, Lymphedema, I...	ORPHA:3226
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aor...	ORPHA:261197
Mhc Class Ii Deficiency 1	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Villo...	OMIM:209920
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Dermatomyositis	Erythema, Lung adenocarcinoma, Arrhythmia, Periorbital edema, Cutaneous photosensitivity, Dysphag...	ORPHA:221
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Cleft palate, Ventricular septal defect	OMIM:620210
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Cleft palate, Ventricular septal defect	OMIM:601355
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Abnormal lung lobation, Intestinal malr...	ORPHA:99776
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Seckel Syndrome 9	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s...	OMIM:616777
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema	OMIM:617822
Costello Syndrome	Respiratory insufficiency, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	OMIM:218040
Potocki-Lupski Syndrome	Gastroesophageal reflux, Oral-pharyngeal dysphagia, Patent foramen ovale, Atrial septal defect, H...	OMIM:610883
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology	ORPHA:100025
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Alg6-Cdg	Macroglossia, Jaundice, Protein-losing enteropathy	ORPHA:79320
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Esophagitis, Ventr...	OMIM:612562
Leigh Syndrome	Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co...	ORPHA:506
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Multiple gastric polyps, Prolonged neonatal jaun...	OMIM:225750
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Lymphadenopathy, Thromboc...	ORPHA:507
Abetalipoproteinemia	Abnormal bleeding, Congestive heart failure, Myopathy, Cardiomegaly, Distal lower limb muscle wea...	ORPHA:14
Joubert Syndrome 18	Camptodactyly, Lobulated tongue, Cleft palate, Ventricular septal defect	OMIM:614815
Acrocardiofacial Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Death in infancy, Truncus arterios...	ORPHA:2008
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr...	ORPHA:401768
Down Syndrome	Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular ...	OMIM:190685
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, High palate, Recurrent res...	OMIM:618950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia	OMIM:613155
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Respiratory insufficiency, Ventricular septal...	OMIM:139210
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:77261
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Fucosidosis	Cardiomegaly, Vascular skin abnormality, Acrocyanosis, Decreased muscle mass	ORPHA:349
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu...	OMIM:617201
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Hypertrophic cardiomyopathy, Cutis marmorata, Protruding tongue, Death in childhood,...	OMIM:612938
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
20Q13.33 Microdeletion Syndrome	Hematochezia, Abnormal cardiac ventricle morphology, Oligohydramnios, Atrial septal defect, Facia...	ORPHA:261311
Q Fever	Vasculitis, Abnormal heart valve morphology, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ...	ORPHA:781
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Trisomy 1Q	Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu...	ORPHA:261344
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Abruzzo-Erickson Syndrome	Atrial septal defect, Cleft palate	ORPHA:921
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure, Cardiomyopathy	ORPHA:445038
Lujan-Fryns Syndrome	High palate, Atrial septal defect, Camptodactyly of finger	ORPHA:776
Costello Syndrome	Gastroesophageal reflux, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve pro...	ORPHA:3071
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Atrial septal defect, Dysphagia, Impa...	OMIM:613706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Loeys-Dietz Syndrome 5	Bifid uvula, Bruising susceptibility, Decreased muscle mass, Cleft soft palate, Mitral regurgitat...	OMIM:615582
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Trisomy 13	High, narrow palate, Abnormal lung lobation, Ventricular septal defect, Atrial septal defect, Hyd...	ORPHA:3378
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm...	ORPHA:100026
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Beta-Mercaptolactate Cysteine Disulfiduria	High palate, Atrial septal defect	ORPHA:1035
Anophthalmia Plus Syndrome	Spina bifida, Anophthalmia	ORPHA:1104
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Pulmonary interstitial lymphocyte infiltration, Recurrent respiratory infections, Villous atrophy	OMIM:606367
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Thro...	ORPHA:1304
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia	OMIM:126320
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Niemann-Pick Disease, Type C2	Fetal ascites, Neonatal respiratory distress, Respiratory insufficiency, Polyhydramnios, Death in...	OMIM:607625
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent pneumonia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:500159
Roifman Syndrome	Noncompaction cardiomyopathy, Recurrent pneumonia, Hip contracture, Ventricular septal defect	OMIM:616651
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Patent ductus arteriosus, Death in infancy, Ventricular septal defect	ORPHA:452
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly	OMIM:618107
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Recurrent ...	OMIM:613177
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Anal atresi...	OMIM:612582
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Predominantly lower limb lymphedema, Upp...	ORPHA:293939
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flexion contracture, High palate, Atrial septal defect, Ventricular septal defect	OMIM:617452
Braddock-Carey Syndrome 1	Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Cleft pa...	OMIM:619980
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal...	OMIM:614857
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Myopathy, Cardiomegaly, Left ve...	OMIM:617713
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Diabetic Embryopathy	Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Aplasia/Hypo...	ORPHA:1926
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida	OMIM:207950
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia...	OMIM:235200
Bresek Syndrome	Intrauterine growth retardation, Neonatal death, Hydrocephalus, Microphthalmia, Optic nerve hypop...	ORPHA:85284
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Mediastinal...	OMIM:614742
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue atrophy, Dysphagia	OMIM:613435
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Increased nuchal translucency, Excessive wrinkled skin, Atrial septal ...	ORPHA:1860
Zechi-Ceide Syndrome	Abnormal heart morphology, Atrial septal defect, Cleft palate	ORPHA:217017
Methimazole Embryofetopathy	Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia, Ventricular septal defect	ORPHA:1923
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy...	ORPHA:542323
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Duodenal atresia, Atrial reentry tachycardia, Atrioventr...	OMIM:270100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se...	ORPHA:369891
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Hypertrophic cardiomyopathy, Atrial septal defect, High palate,...	OMIM:619383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory insufficiency, T...	OMIM:253800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Ileus	OMIM:304790
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Recurrent respiratory infections	OMIM:619063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Cryptorchidism, Thrombocytopenia	OMIM:620365
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Transaldolase Deficiency	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial septal d...	OMIM:606003
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Abnormal bleeding, Bruising susceptibility, Decreased muscle mass, Ab...	ORPHA:2953
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in...	OMIM:613845
Lymphatic Malformation 13	Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Neonatal death, Nonimmune hydrop...	OMIM:620244
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pulmonary hypoplasia, Contracture of the distal interphalangeal joint of the fingers, Perimembran...	ORPHA:83617
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cutis marmorata, Ventricular septal defect	OMIM:602501
Keutel Syndrome	Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp...	ORPHA:85202
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Stevenson-Carey Syndrome	Camptodactyly, Joint contracture of the hand, Gastroesophageal reflux, Atrial septal defect	OMIM:611961
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Patent ductus arte...	ORPHA:2248
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ...	ORPHA:254346
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture	ORPHA:284417
Bohring-Opitz Syndrome	Narrow palate, Neonatal respiratory distress, Gastroesophageal reflux, Intestinal malrotation, Po...	OMIM:605039
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Atrial septal defect, Scapular winging, High palate, Dysphagia, Patent...	OMIM:617061
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohydramnios, Congenital di...	OMIM:611812
Tarp Syndrome	Tetralogy of Fallot, Cyanosis, Abnormal duodenum morphology, Atrial septal defect, Glossoptosis, ...	ORPHA:2886
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Fg Syndrome Type 1	Gastroesophageal reflux, Abnormal large intestine morphology, Facial wrinkling, Mitral valve prol...	ORPHA:93932
Pneumocystosis	Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ...	ORPHA:723
Wildervanck Syndrome	Meningocele	ORPHA:3456
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Arterial rupture, Bruising susceptibility, Poor wound healing, Atrial septal defect	OMIM:619115
Conotruncal Heart Malformations	Transposition of the great arteries, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Kaposiform Lymphangiomatosis	Epistaxis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Subconjuncti...	ORPHA:464329
Fanconi Anemia, Complementation Group B	Duodenal atresia, Abnormal lung lobation, Death in infancy, Ventricular septal defect, Tracheoeso...	OMIM:300514
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Ventricular septal defect	OMIM:214300
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Polyhydramnios, Pulmonic stenosis	OMIM:611553
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Death in infancy, Atrial septal defect, Polyhydram...	ORPHA:1790
7Q31 Microdeletion Syndrome	Gastroesophageal reflux, Skeletal muscle atrophy, Atrial septal defect, Torticollis, Patent ductu...	ORPHA:251061
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1335
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septa...	ORPHA:485405
Noonan Syndrome 4	Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defec...	OMIM:610733
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardi...	OMIM:615846
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal ...	ORPHA:2556
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Respiratory insufficienc...	OMIM:616720
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic car...	OMIM:617303
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Ventricular septal defect...	ORPHA:1708
Megalencephaly	Atrial septal defect	ORPHA:2477
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Stomach cancer, Intest...	ORPHA:1052
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Dysphagia, Arthrogrypos...	OMIM:614961
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Gastroesophageal reflux, Congenital diaphragmatic hernia, High pal...	ORPHA:363528
Metatropic Dysplasia	Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi...	OMIM:156530
Eosinophilic Fasciitis	Myositis, Muscular edema, Acrocyanosis, Edema	ORPHA:3165
Cog8-Cdg	Prolonged prothrombin time, Protein-losing enteropathy, Skeletal muscle atrophy, Spontaneous hema...	ORPHA:95428
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Intestina...	ORPHA:2255
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Limb joint contracture, High palate, Atrial septal defect, Ventricular septal defect	ORPHA:505237
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Facial hypotonia, Ventricular septal defect	OMIM:618798
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Skeletal muscle atrophy,...	ORPHA:17
Proprotein Convertase 1/3 Deficiency	Villous atrophy	OMIM:600955
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ...	OMIM:613404
Noonan Syndrome 13	Gastroesophageal reflux, Bruising susceptibility, Lymphedema, Mitral regurgitation, Mitral valve ...	OMIM:619087
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Duodenal stenosis, Patent ductus arteriosus, Camptodactyly of finger	ORPHA:2547
Pelger-Huet Anomaly	Lower limb hypertonia, Median cleft palate, Foot dorsiflexor weakness, Ventricular septal defect	OMIM:169400
Gm1 Gangliosidosis	Gastroesophageal reflux, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Cam...	ORPHA:354
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Neonatal respiratory distress, Gastroesophageal reflux, High palate, Ventricular septal...	OMIM:614653
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Bruising susceptibility, Tricuspid regurgitation, Intestinal malrotation, D...	OMIM:601776
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Hydrolethalus	Anencephaly, Hydrocephalus, Anophthalmia, Microphthalmia	ORPHA:2189
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect	OMIM:619721
Tetrasomy 15Q26	Camptodactyly, Patent ductus arteriosus, Atrial septal defect, High palate	OMIM:614846
Noonan Syndrome 3	Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d...	OMIM:609942
Hydatidiform Mole	Anemia	ORPHA:99927
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Ventricular septal defect, Double outlet right ventricle, Polyhydramnios, Pulmonary a...	OMIM:301056
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Ogden Syndrome	High, narrow palate, Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arr...	ORPHA:276432
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Intestinal malrotation, Esophagiti...	ORPHA:2538
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Joint contracture, Polyhydramnios, Recurrent lower respiratory tract infect...	OMIM:618005
Buerger Disease	Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon...	ORPHA:36258
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Respirato...	OMIM:300868
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia...	ORPHA:542306
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Unilateral Polymicrogyria	Epistaxis, Pseudobulbar paralysis, Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous m...	ORPHA:268943
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Pelvic girdle muscle weakness, Prolonge...	ORPHA:273
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2772
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:195
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Meckel Syndrome, Type 7	Aortic valve stenosis, Oligohydramnios, Situs inversus totalis, Portal hypertension, Patent ductu...	OMIM:267010
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Atelectasis, Respiratory insufficiency, Hamartoma of tongue, Intestinal malrota...	OMIM:269860
Nephronophthisis 9	Anemia	OMIM:613824
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Recurrent respiratory infections, Respiratory failure, Aplasia/Hypoplasia of the ...	ORPHA:2759
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:615879
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic...	OMIM:309801
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Intestinal malrotation, Oligohydramnios, Situs inversus totalis, Portal hy...	OMIM:208540
Mogs-Cdg	Generalized edema, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal def...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Prolonged prothrombin time, Respiratory insuffi...	OMIM:618329
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho...	ORPHA:1908
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen o...	OMIM:619699
17Q23.1Q23.2 Microdeletion Syndrome	Gastroesophageal reflux, Congenital contracture, Pulmonary arterial hypertension, Atrial septal d...	ORPHA:261279
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Cyanosis, Pulmonary edema, Gastritis, Prolonged QT ...	ORPHA:31826
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Left ventricular hypertrophy, Atrial septal defect, Cerebral edema, Left-to-right shunt	OMIM:620510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Listeriosis	Pneumonia, Arteritis, Congestive heart failure, Rhabdomyolysis, Miscarriage, Myocarditis, Jaundic...	ORPHA:533
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Cleft palate, Ventricular septal defect	ORPHA:261190
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Ascites, Ventricular septal defect, Pulmonary lymphangiectasia, Polyh...	ORPHA:1655
Oculoauriculofrontonasal Syndrome	Cleft palate, Ventricular septal defect	ORPHA:398156
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, High palate, Atrial septal defect	OMIM:618354
Fryns Syndrome	Joint contracture of the hand, Chylothorax, Meckel diverticulum, Intestinal malrotation, Polyhydr...	OMIM:229850
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Skeletal muscle atrophy, Dysphagia, Polyhydramnios, Arthrogryposis multiplex...	ORPHA:496641
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:618838
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia	ORPHA:397596
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Neonatal respiratory distress, Pulmonary artery at...	OMIM:618164
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Intestinal malrotation, Pulmonary arterial hypertension, Atrial sept...	OMIM:613834
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator...	OMIM:612541
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Neonatal asphyxia, Heart murmur, Atrial septal defect, Cleft palate	ORPHA:2728
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Ventricular septal defect	OMIM:609654
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Polyhydramnios, Cl...	OMIM:202650
Heart And Brain Malformation Syndrome	High, narrow palate, Gastroesophageal reflux, Camptodactyly of finger, Ventricular septal defect,...	OMIM:616920
Pearson Marrow-Pancreas Syndrome	Erythema, Villous atrophy, Death in childhood, Steatorrhea, Hydrops fetalis, Dehydration	OMIM:557000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Atrioventricular canal defect, F...	ORPHA:453499
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Pate...	OMIM:300048
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Abnormal lung lobation, Ventricular septal defect, Subvalvular aortic steno...	OMIM:614114
Skraban-Deardorff Syndrome	Cleft palate, Ventricular septal defect	OMIM:617616
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Subarachnoid hemorrhage, Premature graying of hair	OMIM:277175
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Ventricular septal defect, Pulmona...	OMIM:616449
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Hypomandibular Faciocranial Dysostosis	Aglossia, Patent ductus arteriosus, Atrial septal defect	OMIM:241310
Distal Triplication 15Q	Abnormal heart morphology, Atrial septal defect, High palate, Camptodactyly, Flexion contracture,...	ORPHA:314588
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Atrial septal defect, High palate, Patent ductus arteriosus, Cleft palate	OMIM:220500
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Testicular atrophy	OMIM:618165
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ...	OMIM:615237
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Congenital diaphragmatic hernia, Anal atresia, Atrial sep...	OMIM:614080
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Hydrocephalus, Microphthalmia	OMIM:300863
Eosinophilic Gastroenteritis	Hematochezia, Protein-losing enteropathy, Ascites, Abnormality of the gastrointestinal tract, Ste...	ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Dehydration, Edema	ORPHA:103910
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, High palate, Ventricular septal...	OMIM:619995
Alagille Syndrome 2	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu...	OMIM:610205
Sepsis In Premature Infants	Hypotension, Abnormal bleeding, Functional abnormality of the gastrointestinal tract, Petechiae, ...	ORPHA:90051
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, High palate, Cleft palate, Edema	OMIM:618348
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Congestive he...	ORPHA:90349
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Buratti-Harel Syndrome	Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Velopharyngeal insufficiency, Submucou...	OMIM:619314
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Cleft palate	ORPHA:1915
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Bifid uvula, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular se...	OMIM:614921
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia, Hypoxemia, Cyanosis	ORPHA:330012
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Gastroesophageal reflux, Congestive heart failure, Neonatal death, Palmoplantar cutis laxa, Pulmo...	OMIM:616482
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Camptodactyly, Atrial septal defect, Cleft palate	ORPHA:459061
Coffin-Siris Syndrome 7	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr...	OMIM:618027
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Abnormal heart morphology, Intestinal malrotation, Abnormal gastrointestinal tract m...	ORPHA:404440
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia, Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus...	OMIM:617063
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Ventricular septal defect	ORPHA:2256
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla...	ORPHA:397744
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:228390
Kapur-Toriello Syndrome	Tetralogy of Fallot, Intestinal malrotation, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Recurrent pneumonia, Patent ductus arteriosus, Ventricular septal defect	OMIM:617751
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Recombinant 8 Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi...	ORPHA:96167
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atr...	OMIM:614300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, Edema	ORPHA:79319
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale	OMIM:614582
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Palpebral edema, Atrial septal defect, Camptodactyly, Macroglossia, High palate, Patent ductus ar...	ORPHA:397709
Al Kaissi Syndrome	High, narrow palate, Atrial septal defect, Torticollis	OMIM:617694
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Recurrent pneumonia	OMIM:613502
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Ventricular septal defect	OMIM:113000
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Koolen-De Vries Syndrome	Narrow palate, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand mus...	OMIM:610443
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Absence of the pulmonary valve, Congestive heart failure, Ven...	OMIM:601808
Sneddon Syndrome	Lymphopenia	OMIM:182410
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventricular canal ...	OMIM:619608
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Acrocyanosis, Joint contracture of the 5th finger, Bradycardia	OMIM:614407
Native American Myopathy	Bifid uvula, Gastroesophageal reflux, Congenital contracture, Skeletal muscle atrophy, Respirator...	ORPHA:168572
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Atrial septa...	OMIM:617159
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Gastroesophageal reflux, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Camptod...	OMIM:617360
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Oligohydramnios...	ORPHA:576
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Bifid uvula, Secundum atrial septal defect, Facial diplegia	OMIM:619121
Short Stature-Micrognathia Syndrome	Gastroesophageal reflux, Ventricular septal defect, High palate, Cleft palate, Skeletal muscle hy...	OMIM:617164
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	ORPHA:3306
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Pulmonary artery atresia, Double inlet right ventricle, Dextrotranspositi...	OMIM:619702
Aymé-Gripp Syndrome	Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri...	ORPHA:1272
Acquired Methemoglobinemia	Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia	ORPHA:464453
Infantile Krabbe Disease	Gastroesophageal reflux, Respiratory failure, Abnormal heart rate variability, Shoulder girdle mu...	ORPHA:206436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Mitral stenosis, Submucous cleft hard...	OMIM:617660
Fontaine Progeroid Syndrome	Protruding tongue, Reduced subcutaneous adipose tissue, Neonatal death, Bicuspid aortic valve, At...	OMIM:612289
Woods Syndrome	Ventricular septal defect	OMIM:615236
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Polyhydramnios, Wrist flexion contracture, Flexion contracture of finger, Campto...	ORPHA:254528
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic cardiomyop...	ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Microphthalmia	OMIM:613153
Nephrotic Syndrome, Type 11	High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect	OMIM:616730
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Flexion contracture, Gastroesophageal reflux, Atrial septal defect	OMIM:619720
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:610536
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Dysphagia, Flexion contracture, Arthrogryposis multip...	OMIM:617301
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Patent foramen ovale, Ventricular septal defect, Atrial sept...	OMIM:270450
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Brain abscess, Abnormal lymph node morphology, Abnormal testis morphology, Anemia, ...	ORPHA:54251
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept...	ORPHA:2519
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Leigh Syndrome, Nuclear	Respiratory failure, Respiratory insufficiency	OMIM:256000
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Polyhydramnios, Protein-losing enteropathy, Spontaneous pneumothorax, Lymphedema	OMIM:618154
Donnai-Barrow Syndrome	Intestinal malrotation, Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular s...	OMIM:222448
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus...	ORPHA:340
Pseudotrisomy 13 Syndrome	Median cleft palate, Complete atrioventricular canal defect, Ventricular septal defect, Atrial se...	OMIM:264480
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec...	ORPHA:2473
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Peripheral pulmonary artery stenosis, Aganglionic megacolon, Atrial septal defect,...	OMIM:614749
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Anoperineal fistula, Bronchitis, Villous atrophy, Joint swelling, Crohn's disease, Gas...	OMIM:619381
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Zellweger Syndrome	Respiratory insufficiency, Death in infancy, Ventricular septal defect, Jaundice, High palate, Py...	ORPHA:912
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dilated cardiomyopathy, Edema, Dehydration, Pneumothorax, Fragile skin, Gastrointestin...	ORPHA:79404
Myasthenic Syndrome, Congenital, 21, Presynaptic	Respiratory insufficiency, Cyanosis, Knee flexion contracture, Weakness of facial musculature, Me...	OMIM:617239
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Respiratory ins...	OMIM:619173
Brachytelephalangic Chondrodysplasia Punctata	Neonatal respiratory distress, Gastroesophageal reflux, Ventricular septal defect, Pulmonary arte...	ORPHA:79345
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Gastroesophageal reflux, Contracture of the proximal interphalangeal joint of the 2nd finger, Ven...	OMIM:300998
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Mitral valve prolapse, Umbilical hernia	ORPHA:536532
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Joint contracture of the 5th finger, Joint contracture of the 4th finger, Patent foramen ovale, S...	OMIM:618914
Intellectual Developmental Disorder, Autosomal Recessive 65	Contracture of the proximal interphalangeal joint of the 5th finger, Secundum atrial septal defec...	OMIM:618109
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Sotos Syndrome	High, narrow palate, Narrow palate, Gastroesophageal reflux, Muscular ventricular septal defect, ...	OMIM:117550
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Cleft...	OMIM:619123
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Contractures of the large joints, Ventricular septa...	ORPHA:3078
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale	OMIM:618821
Breath-Holding Spells	Cyanosis	OMIM:607578
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Gastroesophageal reflux, Cleft palate, Ventricular septal defect	ORPHA:447980
Focal Dermal Hypoplasia	Erythema, Gastroesophageal reflux, Duodenal atresia, Camptodactyly of finger, Diastasis recti, Co...	ORPHA:2092
Pierpont Syndrome	Microphthalmia	OMIM:602342
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t...	OMIM:602782
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Respiratory failure	OMIM:250940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure	OMIM:616538
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Wrist flexion contracture, Atrial sept...	ORPHA:436003
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral edema, Respiratory failure, Death in childhood, Torticollis	OMIM:617186
Mgat2-Cdg	Gastroesophageal reflux, Abnormal bleeding, Abnormal heart morphology, Ventricular septal defect,...	ORPHA:79329
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, High, narrow palate, Camptodactyly of finger, Ankyloglossia, Truncus arteri...	ORPHA:261330
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Palpitations, Rhabdomyol...	OMIM:255125
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis, Respiratory failure requiring assisted ventilation	OMIM:620423
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal fistula, High p...	OMIM:620511
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasi...	ORPHA:3376
Fanconi Anemia, Complementation Group F	Pneumonia, Duodenal atresia, Atrial septal defect, Polyhydramnios, Patent ductus arteriosus	OMIM:603467
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Secundum atrial septal defect	ORPHA:96190
Zaki Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia, Patent foramen ovale, High palate	OMIM:619648
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Oligohydramnios, Median...	OMIM:617402
Spondyloepimetaphyseal Dysplasia, Krakow Type	Bruising susceptibility, Elbow contracture, Knee flexion contracture, Atrial septal defect, High ...	OMIM:618162
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea...	ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	High palate, Gastroesophageal reflux, Atrial septal defect, Mitral valve prolapse	OMIM:300986
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele, Microphthalmia	OMIM:614424
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, High palate, Atrial septal defect, Ventricular septal defect	OMIM:309520
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Respiratory failure, Dysphagia, Death in childhood	OMIM:619847
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ...	ORPHA:99827
Restrictive Dermopathy 2	Cyanosis, Gastroesophageal reflux, Rectal prolapse	OMIM:619793
Hemochromatosis, Type 5	Anemia	OMIM:615517
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Anal stenosis, Gas...	ORPHA:280633
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Hydrocephalus, Microphthalmia	ORPHA:370959
Opitz Gbbb Syndrome	Abnormal heart morphology, Ankyloglossia, Congenital diaphragmatic hernia, Patent foramen ovale, ...	ORPHA:2745
Pseudo-Torch Syndrome 1	Petechiae, Patent foramen ovale, Jaundice, High palate, Patent ductus arteriosus	OMIM:251290
Thakker-Donnai Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Tracheoesophagea...	ORPHA:1780
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Pulmonary hypoplasia, Neonatal respiratory distress, Ventricular sep...	OMIM:620025
Warsaw Breakage Syndrome	Tetralogy of Fallot, Cutis marmorata, High palate, Ventricular septal defect	OMIM:613398
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Recurrent respiratory infections, Impaired oropharyngeal...	ORPHA:2004
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis, Secundum atrial septal defect	OMIM:611926
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Mild postnatal growth retardation, Spl...	ORPHA:2136
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Bradycardia, Jaundice, Respiratory failure,...	OMIM:617248
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Beaulieu-Boycott-Innes Syndrome	Velopharyngeal insufficiency, Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect	OMIM:601357
Noonan Syndrome 9	Prolonged prothrombin time, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Alazami Syndrome	Cutis marmorata, Atrial septal defect	ORPHA:319671
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Gastroesophageal reflux, Dysphagia, Ventricular septal defect	ORPHA:494344
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Erythema, Intestinal obstruction, Acrocyanosis, Purpura,...	ORPHA:343
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia with an accessory con...	ORPHA:404443
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Hydrocephalus, Microphthalmia	ORPHA:163966
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Joint contracture of the hand, Gastroesophageal reflux, Anal stenosis, Intestinal ma...	OMIM:300373
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Nijmegen Breakage Syndrome	Recurrent pneumonia, Anal stenosis, Skeletal muscle atrophy, Anorectal anomaly, Anal atresia, Rec...	ORPHA:647
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, High ...	OMIM:620113
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Nocardiosis	Pneumonia, Abnormal heart valve morphology, Emphysema, Pleural effusion, Pneumothorax, Respirator...	ORPHA:31204
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Tracheoesophageal fistula, Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotation, Ventricular s...	OMIM:263520
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Alg12-Cdg	Recurrent pneumonia, Gastroesophageal reflux, Biventricular hypertrophy, Muscular ventricular sep...	ORPHA:79324
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Mitral...	ORPHA:740
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, High palate, Cleft palate, Pulmonary ...	OMIM:612530
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Intestinal fistula...	ORPHA:100078
Verheij Syndrome	Truncus arteriosus, Cleft palate, Ventricular septal defect	OMIM:615583
Cerebrocostomandibular Syndrome	Anal stenosis, Gastroesophageal reflux, Neonatal respiratory distress, Anteriorly placed anus, El...	OMIM:117650
Genitopatellar Syndrome	Gastroesophageal reflux, Knee flexion contracture, Hip contracture, Atrial septal defect, Arthrog...	ORPHA:85201
Mosaic Variegated Aneuploidy Syndrome 1	Oligohydramnios, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atrial septal defect, Duodenal at...	OMIM:257300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Renal Agenesis	Oligohydramnios, Ventricular septal defect, Anal atresia, Hypertension, Pulmonary hypoplasia	ORPHA:411709
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Gastroesophageal reflux, Cutis marmorata, Ventricular septal defect, Bicuspid aortic valve, Atria...	OMIM:610759
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri...	OMIM:618935
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Ventricular septal defect	OMIM:616901
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no...	OMIM:300967
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Macrog...	OMIM:614609
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly	ORPHA:42
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he...	ORPHA:70591
Bickerstaff Brainstem Encephalitis	Pneumonia, Facial paralysis, Limb muscle weakness, Respiratory tract infection, Recurrent gastroe...	ORPHA:79138
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Shashi-Pena Syndrome	Patent ductus arteriosus, Limb hypertonia, Atrial septal defect	OMIM:617190
Noonan Syndrome	Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema...	ORPHA:648
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy	OMIM:615802
Ulnar-Mammary Syndrome	Camptodactyly of finger, Ventricular septal defect, Arrhythmia, Ectopic anus, Anal atresia, Aplas...	ORPHA:3138
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, G...	OMIM:618021
Rhabdoid Tumor	Neoplasm of the liver, Hypertension, Internal hemorrhage, Respiratory insufficiency	ORPHA:69077
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Mitral regurgitation, Death in in...	OMIM:614866
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Transient ischemic attack, Left ventricular systolic dysfunctio...	ORPHA:51608
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, High palate, Secundum atrial septal defect	OMIM:620194
Paternal Uniparental Disomy Of Chromosome 6	Neonatal respiratory distress, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Macroglo...	ORPHA:96191
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Zygomycosis	Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Atele...	ORPHA:73263
Lethal Kniest-Like Dysplasia	Polyhydramnios, Atrial septal defect, Cleft palate, Edema	ORPHA:2347
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Cleft palate	ORPHA:79113
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, Patent foramen ovale, Arrhythmia, Atrial septal defect, Cleft palate	OMIM:619184
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly	OMIM:616100
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension, Respiratory failure	OMIM:619483
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Joubert Syndrome 3	Atrial septal defect	OMIM:608629
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect	ORPHA:1455
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Boutonneuse Fever	Vasculitis, Respiratory failure, Petechiae	ORPHA:83313
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Diastasis recti, Polyhy...	ORPHA:96334
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb amyotrophy, Respiratory failure, Abnormal morphology of musculature of pharynx	ORPHA:280210
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ventricular failure,...	ORPHA:90363
White-Sutton Syndrome	Bifid uvula, Gastroesophageal reflux, Congenital diaphragmatic hernia, Patent foramen ovale, Atri...	OMIM:616364
Kawasaki Disease	Leukocytosis, Thrombocytosis	ORPHA:2331
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect...	ORPHA:261236
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage,...	ORPHA:49566
Kleefstra Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:261494
Optic Atrophy 11	Increased variability in muscle fiber diameter, Facial diplegia, Fiber type grouping	OMIM:617302
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Recurrent pneumonia, Gastrointestinal hemorrhage, Spontaneous pneumot...	ORPHA:731
Down Syndrome	Narrow palate, Gastroesophageal reflux, Secundum atrial septal defect, Celiac disease, Tetralogy ...	ORPHA:870
Lissencephaly 9 With Complex Brainstem Malformation	Dysphagia, Ventricular septal defect	OMIM:618325
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Parenteral Nutrition-Associated Cholestasis	Jaundice, Villous atrophy, Portal hypertension	ORPHA:567983
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:145420
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ...	ORPHA:2968
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Sm...	ORPHA:2929
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Hypertrophic cardiomyopathy, Tricuspid regurgi...	OMIM:617506
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Neonatal respiratory distress, Protruding tongue, Death in childhood, Ventri...	OMIM:214100
Duane-Radial Ray Syndrome	Anal stenosis, Pectoralis hypoplasia, Ventricular septal defect, Aganglionic megacolon, Atrial se...	OMIM:607323
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial ...	OMIM:123700
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Mitochondrial Complex I Deficiency, Nuclear Type 10	Dysphagia, Respiratory failure	OMIM:618233
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale	OMIM:620075
Adams-Oliver Syndrome 2	Hydrocephalus, Microphthalmia	OMIM:614219
Robinow Syndrome, Autosomal Dominant 3	Anteriorly placed anus, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect,...	OMIM:616894
Trisomy 18	Narrow palate, Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventric...	ORPHA:3380
Alagille Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangiectasia of the skin, Atri...	ORPHA:52
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment...	ORPHA:358
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Recurrent pneumonia, Ventricular septal defect, High palate, Recurrent aspiration pn...	OMIM:300472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Microphthalmia	OMIM:615249
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High palate, Glossitis, Patent duc...	OMIM:277380
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Subvalvular...	OMIM:613001
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios, Hydro...	OMIM:616546
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:457077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia...	ORPHA:1692
3Q29 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of toe, Ectopic anus, High palate, Cleft palate	ORPHA:251038
Trisomy 8P	Bifid uvula, Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, ...	ORPHA:264450
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Fibrochondrogenesis 1	Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis, ...	OMIM:228520
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, Atrial septal defect, Scapular winging, High palate	OMIM:609625
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Lymphedema	ORPHA:3137
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Neonatal asphyxia, Bronchitis, Recurrent sinusitis, Tel...	ORPHA:420741
Chédiak-Higashi Syndrome	Epistaxis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Edema	ORPHA:167
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	High palate, Gastroesophageal reflux, Secundum atrial septal defect	OMIM:620242
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Ventricular ...	OMIM:100300
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Jaundice, Increased muscle glycogen content	OMIM:232800
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Patent...	OMIM:613309
Hardikar Syndrome	Intestinal malrotation, Cleft soft palate, Portal hypertension, Patent foramen ovale, Ventricular...	OMIM:301068
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Spina bifida	ORPHA:1327
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Kury-Isidor Syndrome	High palate, Ventricular septal defect	OMIM:619762
Combined Immunodeficiency-Enteropathy Spectrum	Congenital pulmonary airway malformation, Jejunoileal ulceration, Intestinal malrotation, Ventric...	ORPHA:436252
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Anophthalmia, Microphthalmia	OMIM:147250
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Cleft palate, Ventricular septal defect	ORPHA:52055
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Osteopetrosis, Autosomal Recessive 5	Ascites, Limb hypertonia, Stillbirth, Facial palsy, Respiratory failure	OMIM:259720
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Secundum atrial septal defect, Hypertension, Cutis marmorata	OMIM:619758
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia, Protruding tongue	OMIM:619580
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Secundum atrial septal defect, Increased nuchal translucency	OMIM:620183
Cardiofaciocutaneous Syndrome	Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Functional abnormality ...	ORPHA:1340
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Recurrent pneumonia, Furrowed tongue, Contracture of the proximal interphala...	ORPHA:464738
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis m...	ORPHA:48435
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Atrial septal defect	ORPHA:93947
ERI1-related disease	Velopharyngeal insufficiency, Tricuspid regurgitation, Abnormal heart morphology, Ventricular sep...	OMIM:608739
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Cardiomegaly, Pulmonary arterial hypertension, Short stature, Hyper...	OMIM:613320
Bloom Syndrome	Pneumonia, Gastroesophageal reflux, Bronchitis, Neoplasm of the colon, Stomach cancer, Respirator...	ORPHA:125
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Median cleft palate, Myopathy, ...	OMIM:242840
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Fanconi Anemia, Complementation Group I	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:609053
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Distal Deletion 10Q	Facial diplegia, Atrial septal defect, Scapular winging, High palate, Anal atresia, Patent ductus...	ORPHA:96148
Orofaciodigital Syndrome V	Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Ventricular septal defect, ...	OMIM:174300
3Mc Syndrome 1	Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Pa...	OMIM:257920
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus	ORPHA:229
Monosomy 13Q34	Hematochezia, Epistaxis, Prolonged prothrombin time, Common atrium, Pulmonic stenosis	ORPHA:96168
Feingold Syndrome Type 1	Duodenal atresia, Abnormal heart morphology, Multiple muscular ventricular septal defects, Jejuna...	ORPHA:391641
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Decreased muscle mass, Elbow contracture, Ulcerative coliti...	OMIM:617137
Monosomy 18P	Holoprosencephaly, Microphthalmia	ORPHA:1598
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Hyper...	ORPHA:2260
Phaver Syndrome	Pulmonary artery atresia, Camptodactyly of finger, Ventricular septal defect	ORPHA:2876
Wiedemann-Steiner Syndrome	Contracture of the distal interphalangeal joint of the fingers, Atrial septal defect, Patent duct...	OMIM:605130
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Respiratory insufficiency, Tricuspid regurgitation, High palate, Pate...	OMIM:620371
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Aqued...	ORPHA:3412
Codas Syndrome	Gastroesophageal reflux, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ...	OMIM:600373
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, High palate, Patent duct...	OMIM:130720
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Hamartoma of tongue, Complete atrioventricular canal defect, Neonatal death,...	OMIM:617925
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia	OMIM:615758
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Prolonged bleeding following circumcision, Tetralogy of Fallot, Atrioventric...	OMIM:274000
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Tricuspid regurgitation, Ventricular septal defect, Pulmonary arter...	OMIM:620663
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect	OMIM:614886
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased intramy...	ORPHA:502423
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Skeletal muscle atrophy, Respiratory insufficiency, Oligohydramnios, Diastas...	ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Gastroesophageal reflux	OMIM:615595
Feingold Syndrome 1	Duodenal atresia, Ventricular septal defect, Jejunal atresia, Tracheoesophageal fistula, Esophage...	OMIM:164280
Tuberous Sclerosis Complex	Generalized abnormality of skin, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Respiratory...	ORPHA:805
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Anal stenosis, Atrial septal defect, Cleft palate	OMIM:614207
Rabson-Mendenhall Syndrome	Cardiomyopathy, Premature graying of hair, Furrowed tongue, Reduced subcutaneous adipose tissue, ...	ORPHA:769
De Barsy Syndrome	Progeroid facial appearance, Decreased muscle mass, Prominent veins on trunk, Excessive wrinkled ...	ORPHA:2962
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co...	OMIM:620454
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Tachycardia, Hypertension, Respiratory failure	ORPHA:330021
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Heart murmur, Intracr...	ORPHA:163979
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Duodenal atresia, Ventricular septal defect	OMIM:617798
Wolcott-Rallison Syndrome	Ascites, Double outlet right ventricle, Atrial septal defect, Jaundice, Dehydration	ORPHA:1667
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama...	OMIM:175500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Anasarca, Respiratory insufficiency, Emphysema, Intestinal malrotation, ...	OMIM:613658
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Gaucher Disease, Perinatal Lethal	Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Nonim...	OMIM:608013
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Poor wound healing, Bruising susceptibility, Prolonged bleeding time, Ar...	ORPHA:287
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Submucous cleft hard palate,...	ORPHA:3047
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Gastroesophageal reflux, ...	ORPHA:464311
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car...	OMIM:614294
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Spondyloocular Syndrome	Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Duodenal ulcer	OMIM:605822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Pat...	ORPHA:1517
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Delayed puberty, Supra...	ORPHA:91347
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Cryptogenic Organizing Pneumonia	Hypoxemia, Pneumothorax, Cyanosis	ORPHA:1302
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Intestinal malrotation, Ventricular septal defect, Atrial septal d...	OMIM:244450
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Gastroesophageal reflux, Knee flexion contracture, Patent foramen ovale, Lim...	OMIM:618076
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Patent foramen ovale, Polyhydr...	OMIM:607143
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu...	OMIM:178110
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, High palate, Double outlet right ventricle, Ventricular septal defect	OMIM:616652
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl...	OMIM:618223
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Cleft palate, Ventricular septal defect	ORPHA:1770
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia	OMIM:617244
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Anal atresia, Atrial septal defect, Recurrent respiratory infections, Patent ductus ...	OMIM:300968
Pelvis-Shoulder Dysplasia	Hydrocephalus, Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Neonatal respiratory distress, Gastroesophageal reflux, Secundum ...	OMIM:616268
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Restrictive cardiomyopathy, Gastroesophageal reflux, Abnormal lung lobation,...	ORPHA:369837
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni...	OMIM:617205
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Gastrointest...	OMIM:600376
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:268249
Gracile Bone Dysplasia	Aniridia, Hydrocephalus, Microphthalmia	OMIM:602361
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced subcutaneous adipose tissue, Right...	OMIM:617403
Smith-Lemli-Opitz Syndrome	Pyloric stenosis, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Atrioventricular...	ORPHA:818
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Respiratory arr...	OMIM:614947
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ...	ORPHA:2461
Diets-Jongmans Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Duodenal atresia, Ventricular septal defect	OMIM:618846
Kabuki Syndrome 2	Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, High palate, Cleft palate	OMIM:300867
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia...	OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Death...	OMIM:613150
Hydrolethalus Syndrome 1	Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular septal defect, Agenes...	OMIM:236680
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus	ORPHA:2437
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Contracture of the proximal ...	OMIM:619472
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Patent foramen ovale, Ventric...	OMIM:616368
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Lymphedema, Abnormal heart valve morphology, Elbow flexion contracture, Pr...	ORPHA:536471
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Flexion contra...	OMIM:147791
Van Esch-O'Driscoll Syndrome	Bifid uvula, Ventricular septal defect, Pulmonary artery stenosis, Tracheoesophageal fistula, Pul...	OMIM:301030
Oculoskeletodental Syndrome	Lacunar stroke, Macroglossia, Protein-losing enteropathy, Elbow flexion contracture	OMIM:618440
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus	OMIM:615272
Sweeney-Cox Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Median cleft palate, Patent foramen ovale,...	OMIM:617746
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Pleural effusion, Splenomegaly, Limb muscle weakness, Shortened ...	OMIM:232300
Radio-Tartaglia Syndrome	High, narrow palate, Gastroesophageal reflux, Ventricular septal defect, High palate, Dysphagia	OMIM:619312
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid...	OMIM:300707
Limb Body Wall Complex	Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:2369
Hamamy Syndrome	Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regurgitation, Atrial septa...	OMIM:611174
Fanconi Anemia, Complementation Group N	Anal atresia, Atrial septal defect, Ventricular septal defect	OMIM:610832
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Anteriorly placed anus, Aspiration pneumonia, High ...	OMIM:602535
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Pseudobulbar paralysis, Tricuspid regurgitation, Ab...	ORPHA:466791
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Aganglionic megacolon, Limb hypertonia, Ventricular septal defect	OMIM:609460
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Degcags Syndrome	Pneumonia, Pyloric stenosis, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Premature grayin...	OMIM:619488
Ramos-Arroyo Syndrome	Xerostomia, Smooth tongue, Aganglionic megacolon, Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gastroesophageal reflux, Shoulder flexion contracture, Respiratory insufficiency, Tetralogy of Fa...	OMIM:210710
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Respiratory insufficiency, Jaundice, Aplasia/Hypopl...	ORPHA:646
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Emphysema, Transient ischemic at...	ORPHA:500150
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Increased nuchal translucency, Ventricular septal defect, Bicuspid aorti...	OMIM:620654
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Gastroesophageal reflux, Duodenal atresia, Median cleft palate, Patent fo...	OMIM:301043
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Duodenal atresia, Oligohydr...	ORPHA:464306
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Unilateral cleft palate, Submucous cleft hard palate, Ventricular sep...	OMIM:619103
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Patent foramen ovale, Left ventricular hypertrophy, Ectodermal dysplasia, At...	OMIM:613610
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia	OMIM:610756
Myasthenia Gravis	Myositis, Acrocyanosis, Dysphagia, Raynaud phenomenon	ORPHA:589
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Protruding tongue, Patent foramen ovale	OMIM:619179
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Bdv Syndrome	Atrial septal defect	OMIM:619326
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Short stature, Hypertension, Myoc...	OMIM:208000
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil...	OMIM:613179
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Respiratory failure	ORPHA:2707
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Anal atresia, Purpura, Patent ductus arteriosus,...	ORPHA:567
Zttk Syndrome	Aortic regurgitation, Bifid uvula, Submucous cleft hard palate, Ventricular septal defect, Unilat...	OMIM:617140
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Heart murmur, Ventricular septal defect	ORPHA:166035
Chromosome 14Q11-Q22 Deletion Syndrome	Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Macroglossia, High pala...	OMIM:613457
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, High palate, Dysphagia	ORPHA:261250
Nephronophthisis 4	Anemia	OMIM:606966
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Transposition of the great arteries	OMIM:619910
Restrictive Dermopathy 1	Oligohydramnios, Submucous cleft hard palate, Neonatal death, Atrial septal defect, Prominent sup...	OMIM:275210
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Pate...	ORPHA:163956
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Gastroesophageal reflux, Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hern...	OMIM:616682
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid...	OMIM:614823
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septal defect, Arr...	OMIM:312870
Liver Disease, Severe Congenital	Pneumonia, Protein-losing enteropathy, Ascites, Dilatation of the ventricular cavity, Chronic gas...	OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia	OMIM:617591
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Ankyloglossia, Abnormal pulmonary valve morphology,...	ORPHA:1507
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, High palate, Distal amyotrophy	OMIM:617675
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Chylopericardium	ORPHA:538
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Polyhydramnios...	ORPHA:373
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia	ORPHA:293978
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Patent...	OMIM:610338
Microcephaly-Micromelia Syndrome	Neonatal death, Aqueductal stenosis, Intrauterine growth retardation, Microphthalmia	OMIM:251230
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Tricuspid regurgitation, Palpebral edema, Ventricular septal defect, Cam...	ORPHA:261337
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Camptodactyly, Flexion contracture, Atrial septal defect	OMIM:207410
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Phelan-Mcdermid Syndrome	Gastroesophageal reflux, Lymphedema, Ventricular septal defect, Palpebral edema, High palate, Pat...	OMIM:606232
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Narrow palate, Patent duc...	OMIM:277600
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Generalized edema, Joint contracture of t...	OMIM:256520
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Intrauterine growth retardation, Meningocele, Umbilical hernia	ORPHA:2311
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs inversus totalis...	ORPHA:289
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defec...	ORPHA:96121
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Flexion contracture, Atrial septal defect, Submucous cleft hard palate, Generalized limb muscle a...	OMIM:618891
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Den Hoed-De Boer-Voisin Syndrome	Gastroesophageal reflux, Oligohydramnios, Ventricular septal defect, Death in adolescence, Recurr...	OMIM:619229
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Cutis marmorata, Intermittent claudication, Raynaud phenomeno...	ORPHA:416
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Magel2-Related Prader-Willi-Like Syndrome	Gastroesophageal reflux, Xerostomia, Recurrent respiratory infections, Atrial septal defect, Flex...	ORPHA:398069
Turnpenny-Fry Syndrome	Aortic regurgitation, Gastroesophageal reflux, Polyhydramnios, Mitral valve prolapse, Tricuspid v...	OMIM:618371
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb hypertonia, Atrial septal defect	ORPHA:457351
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Atrial septal defect, Mitral valve prolapse, High palate	ORPHA:251066
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Pate...	OMIM:600460
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Penile Agenesis	Anorectal anomaly, Bilateral lung agenesis, Oligohydramnios, Ventricular septal defect, Tracheoes...	ORPHA:49
Opitz Gbbb Syndrome	Gastroesophageal reflux, Rectourethral fistula, Ventricular septal defect, Anal atresia, High pal...	OMIM:300000
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele, Microphthalmia	ORPHA:974
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele	ORPHA:1393
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Pulmonary arter...	OMIM:618454
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Bruising susceptibility, Dehydration, Abnormal bleeding,...	ORPHA:99826
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Ankyloglossia, Polyhydramnios, Patent foramen ovale, Pulmon...	OMIM:620186
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Hypertrophic cardiomyopathy, Submucous cleft hard palate, Atrial septal ...	OMIM:115150
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri...	OMIM:618748
Trichohepatoneurodevelopmental Syndrome	Gastroesophageal reflux, Polyhydramnios, Ventricular septal defect, Distal arthrogryposis, Steato...	OMIM:618268
Holoprosencephaly	Gastroesophageal reflux, Respiratory insufficiency, Tetralogy of Fallot, Abnormal pulmonary valve...	ORPHA:2162
Doors Syndrome	Adrenal hyperplasia, Thrombocytosis	ORPHA:79500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anteriorly placed anus, Oligohydramnios, Patent foramen ovale, Heart murmur, High palate, Cutaneo...	OMIM:618653
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Narrow palate, Congestive heart failure, Elbow flexion contracture, Mitral...	OMIM:608328
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Macroglossia, Myelopathy, Arthrogryposis multiplex congenita, Umbilical her...	OMIM:252500
Cornelia De Lange Syndrome 1	Pneumonia, High, narrow palate, Gastroesophageal reflux, Elbow flexion contracture, Cutis marmora...	OMIM:122470
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Cleft palate, Ventricular septal defect	ORPHA:96129
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Complete atrioventricular canal defect	ORPHA:476126
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Abnormal heart morphology, Te...	ORPHA:1465
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect	ORPHA:217346
Noonan Syndrome 1	High, narrow palate, Chylothorax, Bruising susceptibility, Abnormal bleeding, Lymphedema, Hypertr...	OMIM:163950
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect	OMIM:219730
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
X Small Rings	Bicuspid aortic valve, Oligohydramnios, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Hypertrophic cardiomyopathy, Tetralogy of F...	ORPHA:84
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Common atrium	OMIM:619143
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Cutis marmorata, Multiple joint contractures, Cardiomegaly, Myositis...	ORPHA:51
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Elbow contracture, Atrial septal defect, Stillbirth, Respiratory failu...	OMIM:304120
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Epistaxis, Gastroesophageal reflux, Bruising susceptibility, Mitral valve pr...	ORPHA:285
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Ventricular septal defect, Camptodactyly, Cleft palate	OMIM:272950
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Muscular ventricular septal defect, Mitral regurgitation, Patent foramen...	OMIM:157800
2Q31.1 Microdeletion Syndrome	Cleft palate, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:251014
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal...	ORPHA:63259
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Pulmonary hypoplasia, Ventricular septal defect	OMIM:615503
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pneumonia, Narrow palate, Gastroesophageal reflux, Abnormal heart morpholo...	ORPHA:353281
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure, Polyhydramnios, Mitral regurgitation	OMIM:617809
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy	OMIM:105210
Sarcoidosis, Susceptibility To, 1	Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Hepatomegaly, Pericardial effusion	OMIM:181000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Frontonasal Dysplasia 2	Intrauterine growth retardation, Encephalocele, Microphthalmia	OMIM:613451
Fraser Syndrome 2	Intestinal malrotation, Oligohydramnios, Rectal atresia, Anal atresia, Respiratory failure	OMIM:617666
Chylomicron Retention Disease	Steatorrhea, Fat malabsorption, EMG: myopathic abnormalities, Myopathy	ORPHA:71
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure	OMIM:619259
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticul...	ORPHA:90348
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia	OMIM:620005
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Atrial septal defect	OMIM:602482
Mowat-Wilson Syndrome	Pyloric stenosis, Abnormal enteric ganglion morphology, Abnormal heart morphology, Submucous clef...	OMIM:235730
Wiskott-Aldrich Syndrome	Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Inflammation of the large intestine, Brui...	ORPHA:906
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Oculoectodermal Syndrome	Lymphedema, Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect, Patent ...	OMIM:600268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Fragile skin, Atrial sept...	OMIM:271640
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Intestinal malrotation, Death in infancy, Ventricu...	ORPHA:2308
Ctcf-Related Neurodevelopmental Disorder	Gastroesophageal reflux, Pulmonary hemorrhage, Joint contracture of the 5th finger, Mitral regurg...	ORPHA:363611
Smith-Lemli-Opitz Syndrome	Pyloric stenosis, Bifid uvula, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Hyp...	OMIM:270400
C Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Camptodactyly of finger	OMIM:619951
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Williams Syndrome	Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect,...	ORPHA:904
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Knee flexion contracture, Hip ...	OMIM:606170
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Atrial septal defect, Patent ductus arteriosus	ORPHA:2637
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Increased fecal bile acid, Fat malabsorption	OMIM:613291
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defec...	OMIM:619575
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Death in childhood, V...	OMIM:309500
Joubert Syndrome 2	Hydrocephalus, Encephalocele, Microphthalmia	OMIM:608091
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel...	ORPHA:3261
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Tetralogy of Fallot, Submucous cleft hard palate, Ventricular septa...	OMIM:192430
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysphagia, Cyanosis	ORPHA:488627
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Neonatal respiratory distress, Gastroesophageal reflux, Cyanosis, Death in infancy, Death in chil...	OMIM:618426
Pallister-Hall Syndrome	Microglossia, Anteriorly placed anus, Abnormal lung lobation, Neonatal death, Ventricular septal ...	OMIM:146510
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h...	ORPHA:444072
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Walker-Warburg Syndrome	Hydrocephalus, Anophthalmia, Microphthalmia	ORPHA:899
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:300712
Radio-Renal Syndrome	High, narrow palate, Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect, Multiple pulmonary cysts, Prolonged ne...	OMIM:619418
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,...	OMIM:268800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Right atrial enlargement, Atrial septal defect	OMIM:615219
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Arrhythmia, Atrial septal defect, High palate, Cleft palate	OMIM:164200
Ellis-Van Creveld Syndrome	Common atrium, Ectodermal dysplasia, Atrial septal defect	OMIM:225500
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lung lobation, Abnormal heart morp...	ORPHA:508488
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Familial Dysautonomia	Gastroesophageal reflux, Abnormal pleura morphology, Acrocyanosis, Orthostatic hypotension, Tachy...	ORPHA:1764
Plague	Hypotension, Inflammation of the large intestine, Abnormal bleeding, Ileitis, Arrhythmia, Enteroc...	ORPHA:707
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Congestive heart failure, Abnormal heart morphology, Aspiration pneumoni...	ORPHA:444077
21Q22.11Q22.12 Microdeletion Syndrome	Camptodactyly, Atrial septal defect	ORPHA:261323
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Microphthalmia	ORPHA:3301
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Spontaneous pneumothorax, Bifid uvula, Bruising su...	OMIM:613795
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Developmental And Epileptic Encephalopathy 95	Umbilical hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogr...	OMIM:618143
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Trichothiodystrophy	High, narrow palate, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Recu...	ORPHA:33364
Lateral Meningocele Syndrome	High, narrow palate, High palate, Ventricular septal defect	ORPHA:2789
Matthew-Wood Syndrome	Abnormal lung morphology, Duodenal stenosis, Congenital diaphragmatic hernia, Pulmonary hypoplasia	ORPHA:2470
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Progressive flexion contractures, Atrial septal defect	ORPHA:522077
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Patent foramen ovale, Jo...	OMIM:618460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Gastroesophageal reflux, Contracture of the proximal interphalangeal joint of the 3rd finger, Con...	OMIM:301044
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Gastroesophageal reflux, Dilatation of the ventricular cavity, Polyhydramnios, Ventricular septal...	ORPHA:459070
Pancreatic And Cerebellar Agenesis	Flexion contracture, Secundum atrial septal defect, Reduced subcutaneous adipose tissue, Death in...	OMIM:609069
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Restrictive Dermopathy	Microcolon, Camptodactyly of finger, Multiple joint contractures, Submucous cleft hard palate, Tr...	ORPHA:1662
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Skeletal muscle atrophy, Death in childhood	OMIM:618252
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:619127
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Gastroesophageal reflux, Abnormal heart morphology, Ankyloglossia, Mitral re...	OMIM:615873
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Gabriele-De Vries Syndrome	Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, High palate	OMIM:617557
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Recurrent infections due to aspiration, Orthostatic hypotension, Tachyca...	OMIM:223900
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Fraser Syndrome 1	Abnormal heart morphology, Abnormal small intestine morphology, Abnormality of the anus, Cleft pa...	OMIM:219000
Microphthalmia, Syndromic 2	Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Ventricular septal defect, Contracture...	OMIM:300166
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic ...	OMIM:236670
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Loeys-Dietz Syndrome 1	Bifid uvula, Hypoplasia of the musculature, Pulmonary artery aneurysm, Mitral valve prolapse, Bic...	OMIM:609192
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Jaundice, Fat malabsorption	OMIM:211600
Temtamy Syndrome	Microphthalmia	OMIM:218340
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Jaundice, Muscle fiber splitting, Myopathy	OMIM:611881
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal ...	ORPHA:280
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Pedal edema, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Cutaneous photosensitivity, Pyloric stenosis	OMIM:616395
Distal Deletion 12Q	High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Elbow flexion contra...	ORPHA:96149
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular s...	OMIM:154400
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, M...	OMIM:610828
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Cleft palate, Ventricular septal defect	OMIM:106260
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Hydrocephalus, Microphthalmia, Holoprosencephaly	ORPHA:2166
Moebius Syndrome	Microphthalmia	OMIM:157900
Charge Syndrome	Anal stenosis, Secundum atrial septal defect, Duodenal atresia, Tetralogy of Fallot, Ventricular ...	OMIM:214800
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis	ORPHA:747
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Diphallia	Gastrointestinal duplication, Duplicated colon, Abnormal heart morphology, Abnormality of the gas...	ORPHA:227
Common Variable Immunodeficiency	Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly	ORPHA:1572
Yunis-Varon Syndrome	High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Glossopt...	ORPHA:3472
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Stromme Syndrome	Stillbirth, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:243605
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Abnormal heart morphology, Oligohydramnios, Patent foramen ovale, High palate, Recur...	ORPHA:177907
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect	OMIM:620558
Diamond-Blackfan Anemia 21	Aortic regurgitation, Cutis marmorata, Secundum atrial septal defect	OMIM:620072
Coffin-Siris Syndrome 1	Tetralogy of Fallot, Intestinal malrotation, Cutis marmorata, Congenital diaphragmatic hernia, Ve...	OMIM:135900
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Fanconi Anemia, Complementation Group C	Flexion contracture, Bruising susceptibility, Ventricular septal defect	OMIM:227645
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Atrial septal defect, High palate, Double inlet left ventricle, Patent ductu...	OMIM:619869
Mitchell-Riley Syndrome	Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Ascites, Jejunal atresia, Ac...	OMIM:615710
Chromosome 16P13.3 Duplication Syndrome	Bifid uvula, Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defe...	OMIM:613458
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the tongue, Mitral valve prolapse, Ventricular septal ...	ORPHA:193
Waardenburg Syndrome, Type 1	Myelomeningocele, Hypoplastic iris stroma, Spina bifida	OMIM:193500
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Atrial septal defect, Polyhydramnios, High palate, Patent ductus arteriosus,...	OMIM:213980
Robinow Syndrome	Abnormal heart morphology, Ankyloglossia, Ventricular septal defect, Pulmonary valve atresia, Atr...	ORPHA:97360
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Pulmonary artery aneurysm, Spontaneous pneumothorax, ...	OMIM:610168
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr...	OMIM:143095
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Congenital Disorder Of Glycosylation, Type Iia	Protruding tongue, Ventricular septal defect	OMIM:212066
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Microphthalmia	OMIM:260660
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo...	ORPHA:91387
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Fat malabsorption, Death in childhood, Hepatocellular carcinoma	OMIM:601847
Meckel Syndrome	Anophthalmia, Encephalocele, Aplasia/Hypoplasia of the iris, Hydrocephalus, Microphthalmia, Anenc...	ORPHA:564
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Hydromyelia, Oligohydramnios, Corneal neovasculariz...	OMIM:308205
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Pneumonia, Narrow palate, Gastroesophageal reflux, Abnormal heart morpholo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Pneumonia, Narrow palate, Gastroesophageal reflux, Abnormal heart morpholo...	ORPHA:353277
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Dilated cardiomyopathy, Gastroesophageal reflux, Camptodactyly of finger, Tetralogy ...	OMIM:607872
Hellp Syndrome	Generalized edema, Hypotension, Poor wound healing, Pleural effusion, Pulmonary edema, Internal h...	ORPHA:244242
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Furrowed tongue, Patent foramen ovale, Ventricular septal defect, Patent...	OMIM:616975
Ring Chromosome 12 Syndrome	High, narrow palate, Secundum atrial septal defect	ORPHA:1439
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells	OMIM:307200
Bile Acid Synthesis Defect, Congenital, 4	Prolonged neonatal jaundice, Hematochezia, Fat malabsorption, Prolonged prothrombin time	OMIM:214950
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis	ORPHA:247353
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Hajdu-Cheney Syndrome	Aortic valve stenosis, Intestinal malrotation, Mitral stenosis, Ventricular septal defect, Recurr...	ORPHA:955
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Encephalocele, Microphthalmia	OMIM:616300
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Mucopolysaccharidosis Type 3	Atrioventricular block, Umbilical hernia, Reduced left ventricular ejection fraction, Splenomegal...	ORPHA:581
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:248700
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Colonic diverticula, Myxomatous mi...	OMIM:194050
Apert Syndrome	Bifid uvula, Ventricular septal defect, Overriding aorta, Ectopic anus, Esophageal atresia, Narro...	OMIM:101200
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Emphysema, Recurrent bronchiti...	OMIM:245150
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Cornelia De Lange Syndrome	Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cutis marmorata, Increased nuchal tran...	ORPHA:199
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Cleft soft palate, Reduced subcutaneous adipose tissue, Hip contracture, Ventricular se...	OMIM:619503
Oculodentodigital Dysplasia	Arrhythmia, Cleft palate, Camptodactyly of finger, Ventricular septal defect	ORPHA:2710
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida, Microphthalmia	OMIM:109400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Cleft palate, Ventricular septal defect	ORPHA:251028
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Carpenter Syndrome 2	High, narrow palate, Narrow palate, Tricuspid regurgitation, Situs inversus totalis, Knee flexion...	OMIM:614976
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Respirato...	ORPHA:2554
Neurooculorenal Syndrome	Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmonary stenosis, Pate...	OMIM:620305
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a...	ORPHA:1519
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High palate, Arthrogryposis multiplex congenita, Atrial septal defect	OMIM:619512
Rodrigues Blindness	Microphthalmia	OMIM:268320
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Abnormal heart morphology, Patent foramen ovale, V...	ORPHA:438213
Bent Bone Dysplasia Syndrome 2	Arthrogryposis multiplex congenita, Atrial septal defect	OMIM:620076
Tetrasomy 9P	Bifid uvula, Pulmonary hypoplasia, Median cleft palate, Abnormal mitral valve morphology, Patent ...	ORPHA:3310
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Pulmonary artery aneurysm, Abnormal bleeding, Bruising susceptibility, Respi...	ORPHA:286
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal...	OMIM:155310
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Hydrocephalus, Microphthalmia	ORPHA:250989
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Oligohydramnios, Submucous cleft soft palate, Ven...	OMIM:608670
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Celiac disease, Cyanosis,...	ORPHA:293987
Bohring-Opitz Syndrome	Congenital contracture, Intrauterine growth retardation, Facial hypotonia, Cardiomegaly, Abnormal...	ORPHA:97297
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Intestinal malrotation, Ventricular septal defect, Anal atres...	OMIM:147920
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Limb hypertonia	OMIM:620306
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventric...	OMIM:280000
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Microphthalmia, Syndromic 3	Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Pulmonary artery atresia, Gastroesophageal reflux, Ventricular sep...	OMIM:620568
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Oligohydramnios, Atrial septal defect, High palate, Hypertension	OMIM:300896
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial sept...	OMIM:118450
Fibular Hemimelia	Spina bifida, Anophthalmia	ORPHA:93323
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Atrial septal defect, Edema	ORPHA:2526
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli...	OMIM:619268
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Larsen Syndrome	Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:150250
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
Chime Syndrome	Erythema, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transposition ...	ORPHA:3474
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Abnormal heart morphology, ...	ORPHA:268261
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Nail-Patella Syndrome	Microphakia, Spina bifida	OMIM:161200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela...	ORPHA:79280
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita...	ORPHA:391665
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Short stature, Macroglossia, Flexion contracture, Gener...	OMIM:230000
Pallister-Hall Syndrome	Bifid uvula, Microglossia, Abnormal lung lobation, Atrioventricular canal defect, Respiratory ins...	ORPHA:672
Micro Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2510
Hajdu-Cheney Syndrome	Intestinal malrotation, High palate, Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Mosaic Trisomy 20	Dysplastic tricuspid valve, Cleft palate, Abnormal mitral valve morphology, Ventricular septal de...	ORPHA:1724
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Catel-Manzke Syndrome	Bifid uvula, Ventricular septal defect, Overriding aorta, Dextrocardia, Camptodactyly, High palat...	OMIM:616145
Refsum Disease	Microphthalmia	ORPHA:773
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Camptodact...	ORPHA:500095
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Submucous cleft hard palate, Patent foramen ovale, Cleft hard palate, Polyhydramnios...	OMIM:300990
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Wolf-Hirschhorn Syndrome	Malrotation of small bowel, Gastroesophageal reflux, Decreased muscle mass, Ventricular septal de...	OMIM:194190
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Distal lower limb amyotrophy, Patent foramen ovale, Distal arthrogrypo...	ORPHA:506358
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Lymphedema, Gas...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Lymphedema, Gas...	ORPHA:99228
Monosomy X	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Lymphedema, Gas...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, High, narrow palate, Inflammation of the large intestine, Lymphedema, Gas...	ORPHA:881
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Monosomy 9Q22.3	Microphthalmia, Hydrocephalus, Umbilical hernia	ORPHA:77301
Orofaciodigital Syndrome Xiv	Anteriorly placed anus, Hamartoma of tongue, Ventricular septal defect, Aplasia of the epiglottis...	OMIM:615948
Johanson-Blizzard Syndrome	Generalized edema, Colonic diverticula, Dilated cardiomyopathy, Anasarca, Anteriorly placed anus,...	OMIM:243800
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale	ORPHA:457395
Mayer-Rokitansky-Küster-Hauser Syndrome	Atrial septal defect, Pulmonic stenosis	ORPHA:3109
Hypothyroidism, Congenital, Nongoitrous, 5	Mitral regurgitation, Patent foramen ovale	OMIM:225250
Sotos Syndrome	Ankle flexion contracture, Small cell lung carcinoma, Gastroesophageal reflux, Abnormal heart mor...	ORPHA:821
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Knee flexion contracture, Atrial septal defect, Torticol...	OMIM:609945
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Acrocephalopolydactylous Dysplasia	Ascites, Hypoplastic colon, Hypoplasia of the small intestine, Extrapulmonary lobar sequestration...	OMIM:200995
Pallister-Killian Syndrome	Aortic valve stenosis, Bifid uvula, Anal stenosis, Camptodactyly of 2nd-5th fingers, Anteriorly p...	OMIM:601803
Superficial Siderosis	Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Persistent bleeding after...	ORPHA:247245
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Shwachman-Diamond Syndrome	Pneumonia, Abnormal heart morphology, Abnormality of the gastrointestinal tract, Steatorrhea, Fat...	ORPHA:811
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Cleft palate, Ventricular septal defect	OMIM:619895
Steinfeld Syndrome	Holoprosencephaly, Microphthalmia	OMIM:184705
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Hydrocephalus, Microphthalmia	OMIM:614083
Holoprosencephaly 9	Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Holoprosencephaly, Occipit...	OMIM:610829
Chilton-Okur-Chung Neurodevelopmental Syndrome	Epistaxis, Aplasia of the right hemidiaphragm, Ankyloglossia, Oligohydramnios, Patent foramen ova...	OMIM:619841
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudication, Raynaud p...	OMIM:259900
Femoral-Facial Syndrome	Gastroesophageal reflux, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, ...	OMIM:134780
Bartsocas-Papas Syndrome 1	Anal stenosis, Patent foramen ovale, Anal atresia, Flexion contracture, Arthrogryposis multiplex ...	OMIM:263650
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Aganglionic megacolon, Acrocyanosis	ORPHA:2896
Joubert Syndrome 21	Dysphagia, Respiratory failure, Pulmonary hypoplasia	OMIM:615636
Lathosterolosis	Intrauterine growth retardation, Meningocele	ORPHA:46059
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Velopharyngeal insufficiency, Celiac disease, Tetralogy of Fallot, Paten...	OMIM:619325
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Tetralogy of Fallot, Ventricular septal defect, Tracheoes...	OMIM:107480
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Cleft palate, Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect	ORPHA:1071
Schinzel-Giedion Midface Retraction Syndrome	Macroglossia, Hepatoblastoma, Atrial septal defect	OMIM:269150
Ulnar-Mammary Syndrome	Anal stenosis, Elbow flexion contracture, Ventricular septal defect, Arrhythmia, Anal atresia, Py...	OMIM:181450
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate...	OMIM:616462
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Monosomy 13Q14	Intrauterine growth retardation, Holoprosencephaly, Microphthalmia	ORPHA:1587
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g...	OMIM:192350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Occipital encephalocele	ORPHA:397715
Bardet-Biedl Syndrome 20	Atrial septal defect	OMIM:619471
Omodysplasia 1	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:258315
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa...	OMIM:268300
Aicardi Syndrome	Spina bifida, Microphthalmia	OMIM:304050
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Atrial septal defect, De...	ORPHA:2911
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Autoinflammatory Disease, Systemic, With Vasculitis	Periorbital edema, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Cardiomegal...	OMIM:620376
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Congenital Disorder Of Glycosylation, Type Iiw	Gastroesophageal reflux, Tetralogy of Fallot, Ankyloglossia, Ventricular septal defect, Prolonged...	OMIM:619525
Beckwith-Wiedemann Syndrome	Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Polyhydramnios, Spl...	ORPHA:116
Peters-Plus Syndrome	Anteriorly placed anus, Diastasis recti, Ventricular septal defect, Atrial septal defect, Polyhyd...	OMIM:261540
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Pagod Syndrome	Meningocele, Encephalocele, Spina bifida	ORPHA:991
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, High, narrow palate, Short uvula, Congestive heart failure, Ankyloglossia, ...	OMIM:619475
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc...	ORPHA:512
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:617729
Chromosome 13Q14 Deletion Syndrome	High palate, Patent foramen ovale, Ventricular septal defect	OMIM:613884
Pseudoaminopterin Syndrome	High palate, Posterolateral diaphragmatic hernia, Patent foramen ovale	ORPHA:221120
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:251300
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Hydrocephalus, Micropht...	OMIM:249000
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Gastroesophageal reflux, Cleft palate, Ventricular septal defect	ORPHA:513456
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Knobloch Syndrome 1	Occipital encephalocele, Macular hypoplasia, Phthisis bulbi, Spina bifida occulta, Occipital meni...	OMIM:267750
Townes-Brocks Syndrome	Anteriorly placed anus, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal d...	ORPHA:857
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrial septal defect	OMIM:250220
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac...	OMIM:256040
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Patent foramen ovale, Lower limb hypertonia	ORPHA:477993
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Atrial septal defect, High palate, Anal atresia, Patent ductus arteriosus, Cleft ...	ORPHA:480880
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Phocomelia, Schinzel Type	Intrauterine growth retardation, Meningocele	ORPHA:2879
Floating-Harbor Syndrome	Mesocardia, Atrial septal defect, Celiac disease	OMIM:136140
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Ventricular septal defect, Aplasia of the epiglottis, Bifid tongue, Patent d...	ORPHA:434179
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Cockayne Syndrome B	Normal pressure hydrocephalus, Hypoplasia of the iris, Intrauterine growth retardation, Microphth...	OMIM:133540
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:364577
Floating-Harbor Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Mesocardia, Atrial septal defect, Celiac disease	ORPHA:2044
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Microphthalmia	OMIM:227646
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Early Infantile Epileptic Encephalopathy	Cleft palate, Ventricular septal defect	ORPHA:1934
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc...	OMIM:613355
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Digeorge Syndrome	High, narrow palate, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Atelectasis, Tetr...	OMIM:188400
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Microphthalmia	ORPHA:3186
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Dubowitz Syndrome	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:223370
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Fryns Syndrome	Microphthalmia	ORPHA:2059
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Secundum atrial septal defect, Recurrent respiratory infections, Premature skin wrinkl...	OMIM:264090
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Mend Syndrome	Hydrocephalus, Microphthalmia	ORPHA:401973
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Yellow Fever	Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Bradycardia, Excessive blee...	ORPHA:99829
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Cleft palate, Respiratory failure, Submucous cleft hard palate	ORPHA:2636
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microphthalmia With Limb Anomalies	True anophthalmia, Hydrocephalus, Microphthalmia	ORPHA:1106
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ...	ORPHA:79318
Ulbright-Hodes Syndrome	Oligohydramnios, Pneumothorax, High palate, Respiratory failure, Pulmonary hypoplasia	ORPHA:3404
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Hydrocephalus, Microphthalmia, Spina ...	OMIM:305600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Atrial septal defect, High palate, Dysphagia, Patent ductus arteriosus	OMIM:619522
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Lobar holoprosencephaly, Bilateral microphthalmos, Optic nerve h...	ORPHA:468631
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Coffin-Lowry Syndrome	Cutis marmorata, Mitral regurgitation, High palate, Narrow palate, Acrocyanosis, Rectal prolapse	OMIM:303600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Orofaciodigital Syndrome Vi	Occipital meningocele	OMIM:277170
Charge Syndrome	Umbilical hernia, Intrauterine growth retardation, Anophthalmia, Microphthalmia, Aqueductal steno...	ORPHA:138
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Holoprosencephaly 1	Alobar holoprosencephaly, Ethmocephaly, Microphthalmia	OMIM:236100
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Proboscis Lateralis	Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia, Microphthalmia	ORPHA:141099
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hydrocephalus, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Recurrent pneumonia, Recurrent bronchitis, Ventricular septal defect, High palate	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Hyphema, Abnormal he...	ORPHA:261552
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Buphthalmos, Umbilical hernia	ORPHA:534
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Dysphagia, Secundum atrial septal defect, Patent ductus arteriosus	OMIM:620455
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Tetraamelia Syndrome 1	Hydrocephalus, Microphthalmia	OMIM:273395
Rubinstein-Taybi Syndrome 2	Intestinal malrotation, Narrow palate, High palate	OMIM:613684
Yunis-Varon Syndrome	Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept...	OMIM:216340
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Marfan Syndrome	Meningocele, Increased axial length of the globe, Hypoplasia of the iris	ORPHA:558
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Tendon rupture, Musc...	OMIM:182250
Neuroocular Syndrome 1	Short uvula, Ankyloglossia, Submucous cleft hard palate, Patent foramen ovale, Scapular winging	OMIM:619539
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Arima Syndrome	Occipital meningocele	OMIM:243910
Holoprosencephaly 2	Holoprosencephaly, Alobar holoprosencephaly, Microphthalmia, Semilobar holoprosencephaly	OMIM:157170
Aicardi Syndrome	Microphthalmia	ORPHA:50
Cutis Laxa, Autosomal Recessive, Type Ib	Spina bifida, Neonatal death	OMIM:614437
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Monosomy 9P	Microphthalmia	ORPHA:261112
Cockayne Syndrome	Microphthalmia	ORPHA:191
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Secundum atrial septal defect, Multiple joint contractures, Subarterial vent...	ORPHA:99646
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a...	OMIM:164210
Witteveen-Kolk Syndrome	Intrauterine growth retardation, Branchial fistula, Microphthalmia	OMIM:613406
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hydrocephalus, Microphthalmia	OMIM:175780
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma	OMIM:114500
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Menke-Hennekam Syndrome 2	Recurrent upper respiratory tract infections, Duodenal ulcer	OMIM:618333
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele	OMIM:276820
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800

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 Ep300

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 Ep300.

No publications found that use IMPC mice or data for Ep300.

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
Ep300^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ep300^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us