Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox B4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Hoxb4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxb4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation, Abnormal heart valve morphology... ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislo... OMIM:614100
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... DECIPHER:39
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Pectus excavatum, Long fingers, Congenital diaphragmatic hernia, Abnormal cardiac s... OMIM:614294
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormal scapula... ORPHA:2141
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Abnormal... ORPHA:1143
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Triphalangeal thumb, Respiratory insufficiency, Abnormal... ORPHA:1120
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Poland Syndrome
Dextrocardia, Unilateral hypoplasia of pectoralis major muscle, Unilateral absence of pectoralis ... OMIM:173800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Respiratory insufficiency, Congenital diaphragmatic hernia, Tetralogy ... ORPHA:1166
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Respiratory insufficiency, Umbilical hernia, Congenital ... ORPHA:2311
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Cooper-Jabs Syndrome
Ventricular septal defect, Respiratory insufficiency, Congenital diaphragmatic hernia, Missing ri... ORPHA:1488
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy,... OMIM:300580
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebr... OMIM:613686
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Metaphyseal widening, Abnormal heart morphology, Congenital diaphragmatic hernia, Po... OMIM:263210
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Craniofrontonasal Dysplasia
Broad hallux phalanx, Pectus excavatum, Congenital diaphragmatic hernia, Abnormal clavicle morpho... ORPHA:1520
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Hypoxemia, Neonatal respiratory distress, Pectus excavatum, Abnormal heart... ORPHA:2847
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia ORPHA:63260
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... ORPHA:86812
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Congenital diaphragmatic hernia, Finger syndac... ORPHA:380
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Horizontal ribs, Thoracic hypoplasia, Lateral clavicle ho... OMIM:617895
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Rudimentary fibula, Thin ribs, Hemivertebrae, Pectus carinatum, Hypoplastic ... ORPHA:958
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Chronic lung dise... OMIM:618254
Xp22.13P22.2 Duplication Syndrome
Pectus excavatum, 2-3 toe syndactyly, Tapered finger, Congenital diaphragmatic hernia, Small hand... ORPHA:284180
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Fibular h... OMIM:601376
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Pectus excavatum, Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distr... OMIM:614399
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal sternum morphology, Aplasia/Hypoplasia of the ra... ORPHA:1335
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Congenital diaphragmatic hernia, Syndactyly, Abnormality of the diap... OMIM:601163
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Pallor, Elbow flexion contracture, Contractures involving the join... ORPHA:536516
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Mullegama-Klein-Martinez Syndrome
Polydactyly, Congenital diaphragmatic hernia, Hypoplastic left heart, Abnormal cardiac septum mor... OMIM:301022
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Emanuel Syndrome
Ventricular septal defect, Redundant neck skin, Truncus arteriosus, Congenital diaphragmatic hern... ORPHA:96170
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Congenital hip di... OMIM:609029
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Arterial Tortuosity Syndrome
Pectus excavatum, Cutis laxa, Pectus carinatum, Umbilical hernia, Ventricular hypertrophy, Congen... OMIM:208050
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet join... OMIM:606842
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Acrocallosal Syndrome
Triphalangeal thumb, Congenital diaphragmatic hernia, Abnormal clavicle morphology, Postaxial han... ORPHA:36
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Vacterl/Vater Association
Omphalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Aplasia/Hypopla... ORPHA:887
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum ORPHA:2140
Trisomy 1Q
Omphalocele, Ventricular septal defect, Toe syndactyly, Congenital diaphragmatic hernia, Short th... ORPHA:261344
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... ORPHA:1436
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiratio... ORPHA:141152
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Abnormal vertebral morphology, Abnormal aortic valve morphology, Abnormal heart mor... ORPHA:261197
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Hallux valgus, Spatulate thumbs, 11 pairs of ribs, Broad distal phalanges ... OMIM:245600
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Macroglossia, Edema, Polyhydramnios, Respiratory distress, Narrow chest,... ORPHA:1423
Mosaic Trisomy 1
Omphalocele, Ventricular septal defect, Toe syndactyly, Deviation of the 5th toe, Rocker bottom f... ORPHA:1692
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Reduced FEV1/FVC ratio,... OMIM:611884
Tonne-Kalscheuer Syndrome
Broad thumb, Abnormal heart morphology, Brachydactyly, Congenital diaphragmatic hernia OMIM:300978
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Coffin-Lowry Syndrome
Pectus excavatum, Cutis laxa, Pectus carinatum, Hyperextensibility of the finger joints, Tapered ... OMIM:303600
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Dyspnea, Endocardial fibrosis OMIM:613255
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Umbilical hernia, Edema... OMIM:600972
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Umbilical hernia, Sh... OMIM:616145
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Missing ribs... ORPHA:1834
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Pectus excavatum, Pneumothorax, Congenital diaphragmatic hernia, Arach... OMIM:617602
15Q24 Microdeletion Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Small hand, Abnormality of toe, Proxi... ORPHA:94065
Odontochondrodysplasia 1
Genu varum, Death in infancy, Short phalanx of finger, Short long bone, Flat acetabular roof, Con... OMIM:184260
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... OMIM:269250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Focal Dermal Hypoplasia
Omphalocele, Abnormal dental enamel morphology, Short ribs, Finger syndactyly, Abnormal adipose t... ORPHA:2092
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Pulmonic stenosis ORPHA:139466
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough,... ORPHA:2414
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect OMIM:612530
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... OMIM:618022
Cutis Laxa, Autosomal Recessive, Type Ia
Pectus excavatum, Umbilical hernia, Congenital diaphragmatic hernia, Arachnodactyly, Oligohydramn... OMIM:219100
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory insufficien... OMIM:615067
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Broad hallux phalanx, Tapered finger, Atrioventricular canal defect,... ORPHA:251071
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, Arachnodactyly, Hemivertebrae ORPHA:370079
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Atria... OMIM:617300
Czeizel-Losonci Syndrome
Dextrocardia, Radial deviation of the thumb, 3-4 finger syndactyly, Thoracolumbar scoliosis, 1-2 ... ORPHA:2437
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Congenital diaphragmatic hernia, Aplastic clavicle, Short ribs, Polyhydram... OMIM:616546
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Abnormal cardiac septum morphology, Postaxial hand pol... ORPHA:2075
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Aortic valve stenosis, Ventricular septal defect, Palmoplantar cutis laxa,... ORPHA:363705
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Halperin-Birk Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Hip ... OMIM:618651
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Situs... OMIM:615482
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Patellar aplasia, Bilateral camptodactyly, Anterior clefting of vertebral bodies,... OMIM:265000
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... ORPHA:411703
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis,... ORPHA:166272
Acrorenal-Mandibular Syndrome
Toe syndactyly, Butterfly vertebrae, Thin ribs, Hemivertebrae, Hypoplastic scapulae, Congenital d... OMIM:200980
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Respiratory insufficiency, Abnormal tricuspid valve morphology, Missing ribs, Campt... ORPHA:1759
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Myopathy ORPHA:91130
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Erythema, Facial edema, Upper airway obstruction, Res... ORPHA:100057
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... ORPHA:66637
Rheumatic Fever
Myocarditis, Sinusitis, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis, Respi... ORPHA:3099
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Redundant neck skin, Abnormal sternum morphology, Pulmonary arterial h... ORPHA:2519
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Thoracic hypoplasia, Absent in utero ossification of vertebral bodies, Respiratory insufficiency,... OMIM:608022
Kniest Dysplasia
Coronal cleft vertebrae, Hip contracture, Umbilical hernia, Flattened, squared-off epiphyses of t... OMIM:156550
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2 muscle fi... OMIM:254210
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Umbilical hernia, Congenital diaphragmatic hernia, Short foot, Abnormal ca... OMIM:618454
13Q12.3 Microdeletion Syndrome
Obstructive sleep apnea, Congenital diaphragmatic hernia, Kyphoscoliosis, Hip dysplasia, Upper ey... ORPHA:412035
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type 2... OMIM:605809
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tachypnea, Cough, Respiratory distress, Respiratory failure OMIM:263000
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Diaphragmatic eventratio... OMIM:222448
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Simpson-Golabi-Behmel Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Death in infancy, Finger synda... ORPHA:373
American Trypanosomiasis
Myocarditis, Edema, Cough, Cardiomyopathy, Dyspnea, Pallor, Periorbital edema ORPHA:3386
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Polyhydramnio... ORPHA:2759
Retinitis Pigmentosa 42
Pallor OMIM:612943
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... OMIM:253700
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Respiratory insufficiency, Respiratory distress, Increased variability i... ORPHA:238329
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Platyspondyly, Kyphosis ORPHA:2786
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... OMIM:186500
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Pallor ORPHA:228312
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... ORPHA:254875
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia, Anomalous pulmonary venous return ORPHA:2258
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology, Premature sternal synostosis OMIM:184800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Ventricular septal defect, Atrial septal defect ORPHA:49827
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Situs inversus totalis, Ch... OMIM:618063
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defect,... OMIM:616777
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Retinitis Pigmentosa 60
Pallor OMIM:613983
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Abnormal sacrum morphology, Abnor... ORPHA:2345
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Abnormal hemidiaph... ORPHA:2257
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Polyhydramnios, Short neck, Narrow chest, Tetralogy... ORPHA:2059
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Situs inversus total... OMIM:616037
Thakker-Donnai Syndrome
Ventricular septal defect, Hemivertebrae, Congenital diaphragmatic hernia, Cervical C2/C3 vertebr... ORPHA:1780
Retinitis Pigmentosa 81
Pallor OMIM:617871
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory ... OMIM:606763
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Limb Body Wall Complex
Abnormality of the vertebral column, Cutaneous finger syndactyly, Ventricular septal defect, Ecto... ORPHA:2369
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Pedal edema, Pectus carinatum, Umbilical hernia, Short thorax, ... ORPHA:87876
Craniofrontonasal Syndrome
Toe syndactyly, Pectus excavatum, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of ... OMIM:304110
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Ventricular septal defect, Congenital diaphragmatic hernia, Foot polyda... ORPHA:268249
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarp... OMIM:609053
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Anisospondyly, Short long bone OMIM:224410
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Optic Atrophy 9
Pallor OMIM:616289
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Short neck ORPHA:1832
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Respiratory distress, Oligohydramnios, Flexion contracture OMIM:616733
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Missing ribs, Congenital hip dislocation, Finger syndactyly, Abn... ORPHA:1647
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Vertebral segmentation defect ORPHA:1915
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Trisomy 18
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Narrow pelvis bone, Hern... ORPHA:3380
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Truncus arteriosus, Umbilical hernia, Congenital diaphragmatic hernia,... OMIM:600001
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Abnormal thorax morphology, Respiratory distress, ... ORPHA:50251
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Rocker bottom foot, Congenital diaphragmatic hernia, Achi... ORPHA:363528
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Dry skin, Pallor OMIM:603165
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Edema, Cardiomyocyte hypertrophy, Death in adolescence, Clubbing of finge... OMIM:605676
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of femur morphology, Congenital diaphragmatic hernia, Hip dysplasia, Abnormality of f... ORPHA:2063
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Tapered finger, Metacarpophalangeal joint contracture, Respiratory distress, Finger joint hypermo... ORPHA:544503
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Wheezing, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Rhinorrhea OMIM:617577
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Scoliosis OMIM:618238
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Myopathy, Nonimmune hydrops fetalis, Skeletal muscle atrophy, Respiratory... ORPHA:367
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cardiomegaly, Cough, Respiratory failure, Dyspnea, Pallor ORPHA:99931
Thoracoabdominal Syndrome
Omphalocele, Ectopia cordis, Congenital diaphragmatic hernia, Transposition of the great arteries... OMIM:313850
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, Respiratory dis... ORPHA:254864
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Redundant neck skin, Cardiomyopathy, Proximal placement of thumb, ... OMIM:217980
2Q37 Microdeletion Syndrome
Toe syndactyly, Congenital diaphragmatic hernia, Small hand, Finger syndactyly, Clinodactyly of t... ORPHA:1001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Hypopl... ORPHA:2255
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis OMIM:214300
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Pagod Syndrome
Omphalocele, Death in infancy, Situs inversus totalis, Abnormal clavicle morphology, Congenital d... ORPHA:991
Scimitar Syndrome
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Anomal... ORPHA:185
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Asbestos Intoxication
Cor pulmonale, Wheezing, Restrictive ventilatory defect, Hypoxemia, Clubbing of fingers, Edema, E... ORPHA:2302
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Rocker bottom foot, Tapered finger, Congenital diaphragmatic ... ORPHA:1272
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal death, Syndact... OMIM:228940
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:613309
Lowry-Maclean Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Inguinal hernia ORPHA:2409
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Ventricular septal defect, Neonatal respiratory distress, Crackles, Tachypne... OMIM:610978
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Polyhydramnios, Respiratory distress, Narrow chest, Femoral bowing OMIM:618188
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chron... OMIM:614679
Wolf-Hirschhorn Syndrome
Short hallux, Abnormality of the vertebral column, Abnormal vertebral morphology, Congenital diap... ORPHA:280
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Pectus excavatum, Rocker bottom foot, Generalized amyotrophy, Arachnodacty... OMIM:271225
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Torticollis, Dysplasia of the femoral head, Dermal translucency, Atlantoaxial disl... ORPHA:536467
X-Linked Centronuclear Myopathy
Pneumonia, Weakness of facial musculature, Polyhydramnios, Respiratory distress, Type 1 fibers re... ORPHA:596
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Death in infancy, Thin ribs, Neonatal death, Polyhydramnios, Respiratory distress, Cent... OMIM:300219
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Scoliosis OMIM:300934
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Respiratory insufficiency, Spinal deformities, Gener... OMIM:615084
Cornelia De Lange Syndrome 1
Ventricular septal defect, 2-3 toe syndactyly, Hand oligodactyly, Pneumonia, Phocomelia, Elbow fl... OMIM:122470
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Neonatal ... OMIM:260400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... ORPHA:2522
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Kyphoscoliosis, Flexion contracture OMIM:618006
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Neonatal respiratory distress, Neonatal death, Pu... OMIM:619003
White-Sutton Syndrome
Obstructive sleep apnea, Abnormal heart morphology, Congenital diaphragmatic hernia, Facial hypot... ORPHA:468678
Diets-Jongmans Syndrome
Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic hernia, Polyhydramnios, Hip... OMIM:618846
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Marden-Walker Syndrome
Dextrocardia, Decreased muscle mass, Abnormal sternum morphology, Congenital contracture, Arachno... OMIM:248700
Spondyloepiphyseal Dysplasia Congenita
Pectus carinatum, Delayed calcaneal ossification, Atlantoaxial instability, Kyphosis, Platyspondy... OMIM:183900
Esophageal Atresia
Omphalocele, Ventricular septal defect, Chronic pulmonary obstruction, Episodic respiratory distr... ORPHA:1199
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Absent phalangeal crease, Fused thoracic vertebrae, Fused cervical vertebrae, ... OMIM:618469
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Short greater sciatic notch, Broad toe, Short ribs, Diastasis rect... OMIM:312870
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Mitral atresia, Double outlet right ventric... OMIM:306955
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Hemivertebrae, Long fingers, Congenital diaphragmati... ORPHA:96121
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Brachydactyly, Camptodactyly of finger ORPHA:2863
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Respiratory failure, Hypertrophic cardiomyopathy, Rocker bot... ORPHA:3342
Greenberg Dysplasia
Omphalocele, Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary vertebral ossificati... OMIM:215140
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Gastroschisis, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebr... ORPHA:818
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Short thorax, Sandal gap, Respiratory distress, Short me... OMIM:617102
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Optic Atrophy 1
Pallor OMIM:165500
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Primary Effusion Lymphoma
Dyspnea, Pleural effusion, Pericardial effusion ORPHA:48686
Synaptic Congenital Myasthenic Syndromes
Myopathy, Neonatal respiratory distress, Hand muscle weakness, Respiratory insufficiency, Skeleta... ORPHA:98915
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Edema, Short ribs, Polyhydramnio... ORPHA:2347
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Neonatal respiratory distress, Respiratory distress, Scoliosis, Congenital cont... OMIM:615042
Gaucher Disease Type 2
Flexion contracture, Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... ORPHA:3097
Fetal Encasement Syndrome
Omphalocele, Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Tet... OMIM:613630
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Abnormal thorax morphology OMIM:253310
Edema, Apnea, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy, Respiratory distress, A... ORPHA:79330
Opitz Gbbb Syndrome
Omphalocele, Ventricular septal defect, Recurrent aspiration pneumonia, Stridor, Umbilical hernia... ORPHA:2745
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Omphalocele, Tri... OMIM:264480
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Upper airway obstruction OMIM:612776
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Frontometaphyseal Dysplasia 1
Cor pulmonale, Long phalanx of finger, Partial fusion of carpals, Camptodactyly of finger, Elbow ... OMIM:305620
Pseudoaminopterin Syndrome
Pectus excavatum, Postaxial polydactyly, Sacrococcygeal pilonidal abnormality, Clinodactyly of th... ORPHA:221120
Constricting Bands, Congenital
Omphalocele, Ectopia cordis, Gastroschisis, Syndactyly, Hand polydactyly, Bladder exstrophy, Abno... OMIM:217100
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Pectus excavatum, Pectus carinatum, Metaphyseal widening, Macrogloss... OMIM:617303
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Congenital Myasthenic Syndrome
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Pectus carinatum, C... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal deformities, Apneic episodes precipitated by illness, fatigue, stress, Pectus carinatum, C... ORPHA:98914
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Gaucher Disease, Perinatal Lethal
Thoracic hypoplasia, Nonimmune hydrops fetalis, Petechiae, Ascites, Neonatal death, Apnea, Cardio... OMIM:608013
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios OMIM:611812
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased muscle lipid content, Respiratory insufficiency, Tapered finger... OMIM:608836
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Edema, Short ribs, Polyhydramnios, Abs... OMIM:200610
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Vertebral fusion, Short finger, Edema, Polyhydramnios, Hypoplastic heart, Amyoplasia, ... OMIM:312150
Omphalocele, Ventricular septal defect, Respiratory insufficiency, Congenital diaphragmatic herni... ORPHA:2162
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Chronic sinusitis, Cough, Decreased nasal nitric oxide OMIM:619607
Moebius Syndrome
Facial diplegia, Lower limb undergrowth, Congenital fibrosis of extraocular muscles, Arthrogrypos... OMIM:157900
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Retinitis Pigmentosa 70
Pallor OMIM:615922
Broad femoral neck, Abnormal metaphyseal trabeculation, Increased intervertebral space, Diaphysea... OMIM:224300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Abnormal vertebral morphology, Atrioventricular... ORPHA:210122
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Decreased peak expiratory flow,... ORPHA:95430
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Rocker bottom foot, Hemivertebrae, Endocardial fibroelas... ORPHA:99776
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Vertebral fusion, Short finger, Edema, Polyhydramnios, Hypoplastic heart, Amyoplasia, ... OMIM:253290
Kabuki Syndrome
Short middle phalanx of finger, Butterfly vertebrae, Hemivertebrae, Congenital diaphragmatic hern... ORPHA:2322
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Respiratory insufficiency OMIM:601612
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Pectus carinatum, Respiratory distress, Atrial septal defect, Overla... OMIM:619383
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology, Apnea, Respiratory distress, Recurrent pneumonia, Hypoven... ORPHA:314655
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:258850
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Parox... ORPHA:563
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Cardiac Diverticulum
Bicuspid aortic valve, Omphalocele, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve... ORPHA:1686
Atelosteogenesis, Type I
Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Short f... OMIM:108720
Marshall-Smith Syndrome
Omphalocele, Pectus excavatum, Recurrent aspiration pneumonia, Obstructive sleep apnea, Large ste... OMIM:602535
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defect,... OMIM:614080
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna, Endocardial fibroelastosis, Neonatal death, Hydrops fetalis OMIM:276822
Chitayat Syndrome
Hallux valgus, Pectus excavatum, Polyhydramnios, Respiratory distress, Tracheomalacia, Brachydactyly OMIM:617180
Arthrogryposis Multiplex Congenita 6
Death in infancy, Adducted thumb, Neonatal death, Arthrogryposis multiplex congenita, Polyhydramn... OMIM:619334
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... OMIM:615994
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abnormality of epiphysis morphology, Macroglossia, Delayed epiphyseal ossification, Respiratory d... ORPHA:226313
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Small hand, Sand... OMIM:612863
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
C Syndrome
Omphalocele, Toe syndactyly, Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:1308
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Pneumonia, Tachypnea, Ep... ORPHA:26793
Omphalocele, Rocker bottom foot, Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis m... ORPHA:63259
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Myopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Ca... OMIM:115197
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Ventricular septal defect, Triphalangeal thumb, Tricuspid stenosis, Hyp... OMIM:105650
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Respiratory dis... ORPHA:292
Fryns Syndrome
Omphalocele, Ventricular septal defect, Thoracic hypoplasia, Thin ribs, Rocker bottom foot, Aplas... OMIM:229850
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Tachypnea, Abnormal ... ORPHA:2041
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Short-Rib Thoracic Dysplasia 12
Omphalocele, Neonatal death, Short thorax, Short ribs, Short toe, Short long bone, Ventricular se... OMIM:269860
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Dyspnea, Myocardial fibrosis, Cardiomyopathy OMIM:613873
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the radius, Short neck, Respiratory distress... ORPHA:3015
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydration ORPHA:2260
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short clavicles, Atrioventricular canal defect, Short ribs, Polyhydramnios, Resp... OMIM:617088
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Edema, Metaphyseal irregularity, Short ribs, Polyhydramnios, Short diaph... OMIM:245190
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Upper limb undergrowth, Small hand, Knee flexion contracture, Respirat... OMIM:608799
Agnathia-Otocephaly Complex
Situs inversus totalis, Tracheomalacia, Respiratory distress OMIM:202650
Joubert Syndrome With Ocular Defect
Dextrocardia, Abnormal pattern of respiration, Abnormal vertebral morphology, Apnea, Foot polydac... ORPHA:220493
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Syndactyly, Respiratory failure, Abnormal pelvis bone morp... ORPHA:1505
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Stridor, Pectus carinatum, Lumbar kyphosis, Macroglossia, Abnormal h... ORPHA:505248
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Thin ribs, Phocomelia, Pneumothorax, Aplasia of the ulna, Neonatal death, Short ... OMIM:266910
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Congenital diaphragma... ORPHA:2556
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Cutis Laxa, Autosomal Recessive, Type Ib
Pectus excavatum, Cutis laxa, Congenital diaphragmatic hernia, Arachnodactyly, Oligohydramnios, E... OMIM:614437
Breath-Holding Spells
Pallor OMIM:607578
Kcnq2-Related Epileptic Encephalopathy
Pallor, Apnea, Facial erythema, Cerebral edema ORPHA:439218
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Coffin-Siris Syndrome 1
Umbilical hernia, Prominent fingertip pads, Ventricular septal defect, Aplasia/Hypoplasia of the ... OMIM:135900
Pearson Syndrome
Hepatomegaly, Neutropenia, Macronodular cirrhosis, Anemia, Bone marrow hypocellularity, Splenomeg... ORPHA:699
Ventricular septal defect, Pectus excavatum, Abnormal heart morphology, Kyphosis, Respiratory dis... ORPHA:79329
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... ORPHA:231226
Evans Syndrome
Pallor, Dyspnea, Epistaxis, Petechiae ORPHA:1959
Succinic Acidemia
Respiratory distress OMIM:600335
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Facial palsy, Kyphosis, Respiratory distress, Nocturnal hypov... OMIM:211530
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Pectus excavatum, Abnormal heart morphology, Long fingers, Short neck, Hip dislocat... ORPHA:96092
Retinitis Pigmentosa 73
Pallor OMIM:616544
Distal Monosomy 15Q
Bicuspid aortic valve, Short finger, Mitral atresia, Congenital diaphragmatic hernia, Mitral sten... ORPHA:1596
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Idiopathic/Heritable Pulmonary Arterial Hypertension
Dyspnea, Right ventricular dilatation, Pulmonary arterial hypertension, Pedal edema ORPHA:422
Kaposiform Lymphangiomatosis
Ecchymosis, Abnormality of femur morphology, Pericardial effusion, Abnormal scapula morphology, F... ORPHA:464329
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom... ORPHA:99125
Cleidocranial Dysplasia
Neonatal respiratory distress, Abnormal facility in opposing the shoulders, Aplastic clavicle, Sh... OMIM:119600
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Hypercapnia, Respirator... OMIM:164310
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pectus excavatum, Mitral valve prolapse, Tendon rupture, Absent phalangeal crease,... ORPHA:230851
Monosomy 9P
Abnormality of the vertebral column, Congenital diaphragmatic hernia, Proximal placement of thumb... ORPHA:261112
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Congenital diaphragmatic hernia, S... OMIM:301044
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Pulmonary edema, Respiratory failure... ORPHA:70587
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress, Polyhydramnios ORPHA:990
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Hydrops fetalis ORPHA:45452
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Short ribs, Joint contracture of the hand, Camptodactyly... OMIM:224690
Focal Dermal Hypoplasia
Omphalocele, Short metatarsal, Midclavicular hypoplasia, Short ribs, Foot polydactyly, Diastasis ... OMIM:305600
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Slender finger, Respiratory distress, Atr... OMIM:610536
Marden-Walker Syndrome
Dextrocardia, Metatarsus adductus, Ventricular septal defect, Pectus excavatum, Aplasia/Hypoplasi... ORPHA:2461
Microlissencephaly-Micromelia Syndrome
Adducted thumb, Polyhydramnios, Respiratory distress, 11 pairs of ribs, Palpebral edema, Short neck ORPHA:50810
Osteoglophonic Dysplasia
Broad metatarsal, Pseudoarthrosis, Hypoplastic scapulae, Short metatarsal, Bowing of the long bon... OMIM:166250
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal heart morphology, Oligohydramnios, Respiratory insufficiency, Congenital diaphragmatic h... OMIM:617641
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Congenital diaphragmatic hernia, Atrial s... OMIM:309801
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Hernia, Hypoplasia of the radius, Absent thumb, Hypoplas... ORPHA:96097
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Skeletal muscle atrophy, Angioedema, Myocardial eosinophilic infiltration... ORPHA:3260
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Oligohydramnios ORPHA:261304
Scarf Syndrome
Cutis laxa, Hypocalcification of dental enamel, Pectus carinatum, Umbilical hernia, Abnormal form... ORPHA:3134
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Capitate-hamate fusion, Atrioventricular canal defect, S... ORPHA:289
Tetrasomy 5P
Pectus excavatum, Redundant neck skin, Aplasia/Hypoplasia of the abdominal wall musculature, Long... ORPHA:3309
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, Pectus excavatum, Myopathy, Skeletal muscle atrophy, Pectus ... ORPHA:536545
Rare Circulatory System Disease
Abnormal metatarsal morphology, Abnormality of finger, Spinal rigidity, Pelvic bone exostoses, Th... ORPHA:98028
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Tachypnea, Abnormal heart m... ORPHA:2299
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Left atrial enlargement, Interstitial cardiac fibrosis, Pulmonary ve... ORPHA:75249
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Pallor, Lymphedema ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
Lymphatic Malformation 6
Lymphedema, Pectus excavatum, Nonimmune hydrops fetalis, Ascites, Edema, Genital edema, Facial ed... OMIM:616843
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Tachypnea, Edema, Apnea, Pallor, Dehydration ORPHA:20
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Omphalocele, Umbilical hernia, Rhabdomyosarcoma, Macroglossia, Conge... ORPHA:116
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Macroglossia, Respiratory insufficiency d... ORPHA:308552
Respiratory distress ORPHA:673
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Exocrine panc... OMIM:269200
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventr... ORPHA:439
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis OMIM:615415
Autosomal Recessive Malignant Osteopetrosis
Abnormality of epiphysis morphology, Chronic rhinitis, Bowing of the long bones, Apnea, Pulmonary... ORPHA:667
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Right ventricular dilatation, Limb-girdle muscular dystrophy, Restrictive ventilatory d... ORPHA:369847
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Postaxial polydactyly, Small hand, Respiratory distress, Hip dislocation, Atrial ... OMIM:300968
Complete Atrioventricular Septal Defect
Wheezing, Complete atrioventricular canal defect, Primum atrial septal defect, Crackles, Displace... ORPHA:1329
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Pallor, Intermitte... ORPHA:348
Myopathy, Mitochondrial, And Ataxia
Pectus excavatum, Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Scol... OMIM:617675
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pericardial effusion, Exertional dyspnea, Elevated pulmonary artery pressure, Pulmonar... ORPHA:199241
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Crackles, Pedal ede... ORPHA:99095
Witteveen-Kolk Syndrome
Toe syndactyly, Congenital diaphragmatic hernia, Proximal placement of thumb, Arachnodactyly, Abn... OMIM:613406
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... OMIM:616749
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Macroglossia, Respiratory insufficiency d... ORPHA:365
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Weakness of facial musculature, Respiratory insufficiency due to mus... OMIM:220110
Myoclonus, Intractable, Neonatal
Pallor, Apnea OMIM:617235
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Boomerang Dysplasia
Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius OMIM:112310
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short phal... OMIM:274000
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Scoliosis, Calf muscle hypertrophy ORPHA:37612
Dextrocardia, Situs inversus totalis, Abnormal heart morphology, Congenital hip dislocation, Abno... ORPHA:1666
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Edema, Abnormal mucociliary clearance, Purpura... ORPHA:90051
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Ecchymosis, Pneumonia, Myositis, Tachypnea, Edema, Fasciitis, Respiratory... ORPHA:36234
Anaplastic Thyroid Carcinoma
Stridor, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Respiratory distre... ORPHA:142
Alternating Hemiplegia Of Childhood
Apnea, Facial hypotonia, Cardiomyopathy, Respiratory distress, Aspiration, Pallor, Dehydration ORPHA:2131
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Inguinal hernia, Short sternum, Diastasi... OMIM:312830
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Fused cervical vertebrae, Respiratory distress, Flaring of rib cage, Broad ribs, Joint swelling OMIM:612852
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor OMIM:600462
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Pneumonia, Endocarditis, Cough, Respiratory dist... ORPHA:781
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Blackfan-Diamond Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Triphalangeal thumb, Abnormal heart morphol... ORPHA:124
Lujo Hemorrhagic Fever
Myocarditis, Ecchymosis, Crackles, Rhinitis, Facial edema, Periorbital edema, Respiratory distres... ORPHA:319213
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Cough, Left ventricular hypertrophy, Elevated pulmonary artery pres... ORPHA:217607
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor ORPHA:90037
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Abnormality of the ulna, Pectus excavatum, Congenital ... ORPHA:199
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Autoimmune Hemolytic Anemia
Dyspnea, Pallor ORPHA:98375
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Paten... OMIM:212093
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Neonatal respiratory distress, Pulmonary arterial hypertension, Respir... ORPHA:209905
Rhinitis, Pallor, Skin ulcer ORPHA:507
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Pulmonic stenosis, Respiratory distre... ORPHA:70474