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Gene: Ep300 MGI:1276116

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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:
p300,  KAT3B

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Atrial septal defect, Narrow palate, Cardiac conduction abnormality, Aspiration, ... ORPHA:353284
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Intestinal malrotation, Prominent nose OMIM:613684
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma OMIM:114500
Menke-Hennekam Syndrome 2
Narrow nasal bridge, Duodenal ulcer, Recurrent upper respiratory tract infections, Depressed nasa... OMIM:618333

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 2
Thrombocytosis OMIM:601977
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency 40
Lymphopenia OMIM:616433
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Immunodeficiency 8
Lymphopenia OMIM:615401
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Re... OMIM:253300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Immunodeficiency 19
Lymphopenia OMIM:615617
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Dysphagia... ORPHA:266
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Dysphagia, Respiratory insufficiency due to muscle... ORPHA:399058
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Hepatojugular reflux, Late in... ORPHA:2302
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion c... OMIM:616867
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Sterile abscess, Hepatosplenomegaly OMIM:604416
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fi... OMIM:300580
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Childhood-Onset Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular wingin... ORPHA:171439
Nemaline Myopathy 8
Polyhydramnios, Dysphagia, Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, ... OMIM:615348
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal de... ORPHA:2847
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... OMIM:618782
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Recurrent lower respiratory tract infe... OMIM:619170
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Respiratory distress, Myopathy, Cyanosis, Hypertrophic cardi... ORPHA:91130
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Mungan Syndrome
Megaduodenum, Tricuspid regurgitation, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmonic s... OMIM:611376
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Left-to... ORPHA:363444
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Respiratory insufficiency, Rimmed vacuoles, Hy... OMIM:300696
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Nemaline Myopathy 2
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Skeletal muscle... OMIM:256030
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Respiratory insufficiency due to muscle weakness, In... OMIM:300718
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Ga... ORPHA:2414
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Sandestig-Stefanova Syndrome
Camptodactyly, Wide nasal bridge, Perimembranous ventricular septal defect, Muscular ventricular ... OMIM:618804
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Nephronophthisis
Anemia ORPHA:655
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Myopathy, Congenital, With Fiber-Type Disproportion
Dysphagia, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Respiratory ins... OMIM:255310
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Respiratory insufficiency, Supraventricular tachycardia, Myopathy, Fatty replacement o... OMIM:255100
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Pat... ORPHA:1209
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Ragged-red muscle fibers, Dysphagia, Respiratory insufficiency due to muscle... ORPHA:352447
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Acute Interstitial Pneumonia
Bronchiectasis, Pericardial effusion, Reticulonodular pattern on pulmonary HRCT, Cyanosis, Ground... ORPHA:79126
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Death in infancy, Abnormal intestine morphology, Dehydration OMIM:251850
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Short nose, Paroxysmal supraventricular tachycardia, Pulmonic stenosis, ... OMIM:617877
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Secundum atrial sep... OMIM:616866
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Respiratory insufficiency, Neonatal death, Respira... OMIM:228940
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... ORPHA:99106
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension, Respiratory insufficiency ORPHA:3188
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Intermediate Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Flex... ORPHA:171433
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Hypotensio... ORPHA:449285
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle ... ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure, Respiratory failure OMIM:616794
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Respiratory failur... OMIM:607598
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Cutis marmorata, Ventricular septal defect OMIM:615297
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, High palate, Hi... ORPHA:98913
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Apolipoprotein A-I Deficiency
Lymphadenopathy, Anemia, Splenomegaly ORPHA:425
Congenital Atransferrinemia
Anemia ORPHA:1195
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Respiratory in... ORPHA:1909
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Abnormal respiratory system physiology, Muscular dystrophy, Pneumonia, Muscle fib... ORPHA:98905
Congenital Tracheal Stenosis
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Wheezing, Anomalous orig... ORPHA:141127
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respira... OMIM:614399
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Glossoptosis, Cleft palate ORPHA:1388
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
White Forelock With Malformations
Atrial septal defect, Bronchomalacia, Prominent veins on trunk OMIM:277740
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Cough, Respiratory insufficiency, Cutis marmorata, Sinusitis, Myocarditis, Myosi... ORPHA:183
Ethanolaminosis
Cardiomegaly OMIM:227150
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Proximal Spinal Muscular Atrophy
Triceps weakness, Skeletal muscle atrophy, Elbow flexion contracture, Flexion contracture, Quadri... ORPHA:70
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Internal hemorrhage, Abnormal umbilical stump blee... ORPHA:335
Myopathy, Distal, 1
High palate, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rim... OMIM:160500
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Ske... OMIM:616081
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Pulmonary artery atresia, ... ORPHA:3426
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:609456
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Scedosporiosis
Pleuritis, Endocarditis, Pericarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly OMIM:613673
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Dysphagia, Mitral regurgitation, Respiratory insufficiency due to m... OMIM:258450
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Oligohydramnios, Flexion contracture, Abnormal aortic valve ... ORPHA:1194
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Neonatal de... OMIM:611890
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystro... OMIM:255320
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Abno... ORPHA:90308
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Right ventricular failure, Pulmonary capillary hemangiomatosis, Eleva... ORPHA:199241
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency, Cleft palate ORPHA:2901
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory i... OMIM:310200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Anal atresia, Abnormality of the... ORPHA:3469
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Dysphagia, Ventilator dependence with inability to... ORPHA:254875
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double... ORPHA:244
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
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
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Respiratory failure, Dilated cardiomyopathy, Hypertr... OMIM:614299
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bo... OMIM:619334
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Cap Myopathy
Abnormal muscle fiber morphology, High palate, Sinus tachycardia, Lower limb muscle weakness, Cen... ORPHA:171881
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Bulbous nose, Short... OMIM:613870
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Pseudobulbar paralysis, Flexion contracture, Gastroesophageal reflux, Perimembranous ventricular ... OMIM:618651
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Abnormal bleeding, Palpitations, Ischemic stroke, Dyspnea, Bacterial endoca... ORPHA:2038
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Palpitations, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal heart morphology, Respiratory insufficiency, Anal atresia, Respiratory failure OMIM:276950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Respiratory distress, Respiratory fa... ORPHA:308552
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Nemaline Myopathy 3
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Resp... OMIM:161800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Malignant Atrophic Papulosis
Intestinal perforation, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Gastrointestinal... ORPHA:679
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Weakness of facial musculature OMIM:618637
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Bulbous nose, Villous atrophy, Flexion contracture, Wide nasa... OMIM:601110
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Nanophthalmos 4
Microphthalmia OMIM:615972
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Serkal Syndrome
Malrotation of small bowel, Oligohydramnios, Ventricular septal defect, Pulmonic stenosis, Pulmon... ORPHA:139466
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Dyspnea, Respiratory insufficiency, Nemaline bodies, Limb muscle wea... OMIM:606842
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertro... OMIM:239850
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibril... ORPHA:34516
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress, Skeletal muscle atrophy, Increased variability i... ORPHA:238329
Prune Belly Syndrome
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Intestinal malrotation, Patent ... ORPHA:2970
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Centrally nucleated skel... OMIM:619178
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency, Cardiomyopathy OMIM:612999
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Protein-losi... OMIM:608104
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... OMIM:615934
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Anemia, Splenomegaly, Hypersplenism, Abnorma... ORPHA:846
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural... OMIM:615355
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Abnormal respiratory system physiology, Premature skin wri... ORPHA:101028
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Respiratory insufficiency, Pulmonic ... ORPHA:1461
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Congenital muscular dystrophy, Muscular dystrophy, Respiratory insufficiency, Pulmonary arterial ... ORPHA:258
Gombo Syndrome
Microphthalmia OMIM:233270
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Camptodactyly OMIM:613458
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Respiratory ins... OMIM:617021
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... ORPHA:324604
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, I... ORPHA:210122
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth OMIM:152800
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morphology, Patent... ORPHA:1120
Bronchopulmonary Dysplasia
Pulmonary sequestration, Hyperoxemia, Abnormal lung morphology, Abnormal respiratory system morph... ORPHA:70589
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Severe Congenital Nemaline Myopathy
Polyhydramnios, Arthrogryposis multiplex congenita, Edema of the dorsum of hands, Dysphagia, Flex... ORPHA:171430
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Increased intramyocellular lipid droplets, Arrh... ORPHA:26791
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, High palate, Elbo... ORPHA:2020
Esophageal Atresia
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, I... ORPHA:1199
Scleroderma
Pericarditis, Abnormal large intestine morphology, Myocarditis, Pulmonary arterial hypertension, ... ORPHA:801
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Immunodeficiency 31C
Villous atrophy, Recurrent respiratory infections, Abnormal intestine morphology OMIM:614162
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect OMIM:616277
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Hyperekplexia 4
Camptodactyly, Flexion contracture, Distal arthrogryposis, Respiratory failure, High palate OMIM:618011
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Short nose, Ventricular septal defect, Gastroesophageal reflux, Protruding tongue, ... OMIM:301040
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Palmoplantar cutis laxa, Pulmonic stenosis, Depressed nasal b... OMIM:618499
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Villous atrophy, Urticaria, Enterocolitis OMIM:616050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Furrowed tongue, Pulmonic steno... OMIM:248950
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Weakness of muscles of respiration, Generalized amyotrophy, Congest... ORPHA:52430
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Respiratory insufficiency, Congenital diaphragmatic hernia, Cleft pala... ORPHA:1166
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Arrhythmia, Narrow palate, Bulbous nose, Respiratory d... OMIM:608836
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Knee flexion contracture, Hip ... OMIM:313420
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Tracheal atresia, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Respiratory distress, Ventricular septa... ORPHA:26793
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Abnormal heart morphology,... ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Respiratory insuffic... OMIM:615352
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Respirat... ORPHA:2590
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Arthrogryposis multiplex congenita, Respiratory insufficiency, Respiratory failur... OMIM:615330
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal d... OMIM:208085
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Hypertrophic cardiomyopathy OMIM:619386
Netherton Syndrome
Allergic rhinitis, Villous atrophy, Asthma, Hypernatremic dehydration, Abnormal intestine morphol... OMIM:256500
14Q11.2 Microdeletion Syndrome
Short nose, Ventricular septal defect, Patent ductus arteriosus, High palate, Depressed nasal bridge ORPHA:261120
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral regurgitation, P... OMIM:612561
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Pulmonary arterial hypertension, Tetra... OMIM:300887
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Gastroesophageal reflux... ORPHA:486815
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left heart, Bradycard... OMIM:616276
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Myopathy, Centronuclear, X-Linked
Polyhydramnios, Flexion contracture, Diaphragmatic eventration, Respiratory failure requiring ass... OMIM:310400
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Pneumonia, Unroofed coronary sinus, Right atrial enlargement, Presyncope, Pul... ORPHA:99104
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Double outlet... ORPHA:185
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Death in childhood, Ventricular septal defect OMIM:613759
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Respiratory distress, Ventricula... OMIM:306955
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Hydrops fetalis, Rhabdomyolysis, Respiratory insufficiency, Congestive heart failure,... OMIM:609015
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Prolonged QT interval... OMIM:601005
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Dehydration, V... ORPHA:95427
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect ORPHA:1918
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Cholelithiasis, Anemia of inadequate production OMIM:224100
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Restrictive ventilatory defect, Aspiration, Paroxysmal atrial fibri... OMIM:164310
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Ventricular hypertrophy, Decreased muscle mass, Arrhy... ORPHA:263297
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Patent ductus arteriosus, Tricuspid regurgi... ORPHA:97214
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Polyhydramnios, Generalized abnormality of skin, Respiratory di... ORPHA:367
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Camptodactyly of toe, Fragile skin, Impaired myocardial contractility, Respirato... ORPHA:158687
Trichohepatoenteric Syndrome 1
Polyhydramnios, Aortic regurgitation, Ventricular septal defect, Villous atrophy, Jaundice, Pulmo... OMIM:222470
Diarrhea 9
Villous atrophy OMIM:618168
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Intestinal malrotat... OMIM:265380
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Rhabdomyolysis, Lower limb muscle weakness, Tricuspid regurgitation, Respiratory insu... ORPHA:746
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Poor wound healing, Congenital finger flexion contractures, Congenital mus... ORPHA:536516
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Tracheomalacia, Atelectasis, Narrow ... ORPHA:896
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Truncus Arteriosus
Abnormal heart valve physiology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery stenosi... ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Edema, Ascites, Abnormal cardiac septum morphology, Hepatospl... OMIM:608776
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Burn-Mckeown Syndrome
Atrial septal defect, Hypomimic face, Ventricular septal defect, Underdeveloped nasal alae, Choan... OMIM:608572
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Dyspnea, Short nose, Respiratory distress, Respiratory failure, Ante... ORPHA:1832
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Partial Atrioventricular Septal Defect
Exertional dyspnea, Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double ... ORPHA:1330
Malaria
Thrombocytopenia, Anemia ORPHA:673
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Respiratory... ORPHA:1759
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Wide nasal bridge, Ventricular septal defect ORPHA:228399
Systemic Sclerosis
Pericarditis, Joint swelling, Abnormal esophagus morphology, Abnormal large intestine morphology,... ORPHA:90291
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal heart morphology, Joint contra... ORPHA:352490
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619189
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Gastroesophageal reflux, Pat... OMIM:609029
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Aglossia OMIM:241310
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower limb muscl... ORPHA:365
Myopathy, Centronuclear, 5
High palate, Respiratory insufficiency, Facial palsy, Dilated cardiomyopathy, Hip contracture OMIM:615959
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, High palate, Cy... ORPHA:98914
Congenital Myasthenic Syndrome
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, High palate, Cy... ORPHA:590
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Camptodactyly, Intestinal malrotatio... OMIM:617602
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis OMIM:226300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... OMIM:602771
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:603552
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Shashi-Pena Syndrome
Atrial septal defect, Broad nasal tip OMIM:617190
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Hypotension, Pleural effusion, Parench... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618329
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Lessel-Kreienkamp Syndrome
Atrial septal defect, Abnormal pattern of respiration, Gastroesophageal reflux, Patent ductus art... OMIM:619149
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Patent ductus art... OMIM:610505
3C Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Calf muscle p... OMIM:253700
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contrac... OMIM:608149