Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox B4
Synonyms:
Hox-2.6

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 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
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies 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
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Abnormal heart valve morphology, Congenital diaphragmatic hernia, Redundant skin,... ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Cuti... OMIM:614100
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... ORPHA:2141
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of t... ORPHA:1120
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth, Tet... OMIM:613630
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Vertebral ... ORPHA:1166
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... OMIM:173800
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... ORPHA:2311
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Congenital diaph... ORPHA:1488
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ... ORPHA:1520
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Metaphyseal widening, F... OMIM:263210
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri... ORPHA:86812
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus exc... ORPHA:2847
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Craniorachischisis
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia ORPHA:63260
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Pulmo... OMIM:300887
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... OMIM:618254
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... OMIM:614399
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Co... ORPHA:958
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Respiratory distress, Ventricular septal defect, Thoracic hypoplasia, Po... OMIM:617895
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Short neck, Pectus excavatum, Small hand, 2-3 to... ORPHA:284180
Trisomy 1Q
Omphalocele, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, ... ORPHA:261344
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Abnormal h... OMIM:614608
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... ORPHA:1335
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th... OMIM:601163
Acrocallosal Syndrome
Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po... ORPHA:36
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Emanuel Syndrome
Inguinal hernia, Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm... OMIM:609029
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Central diaphragmatic hernia, Sm... OMIM:617450
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... ORPHA:96170
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... ORPHA:94065
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Congenital Heart Block
Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelast... ORPHA:60041
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Pectus carinatu... OMIM:245600
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck... OMIM:613686
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morphology, Hand polyda... ORPHA:261197
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Congenital Diaphragmatic Hernia
Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Vacterl/Vater Association
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... ORPHA:887
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped lo... OMIM:151210
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Flared ... ORPHA:1423
Tonne-Kalscheuer Syndrome
Brachydactyly, Broad thumb, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Mosaic Trisomy 1
Omphalocele, Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin... ORPHA:1692
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Perching Syndrome
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly OMIM:617055
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Pulmonic ... ORPHA:2414
Odontochondrodysplasia 1
Respiratory distress, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of fing... OMIM:184260
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Tapere... OMIM:303600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia ORPHA:66630
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonat... OMIM:618393
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormal rib morphology, ... ORPHA:1834
Achondrogenesis, Type Ib
Inguinal hernia, Edema, Polyhydramnios, Hypoplastic ilia, Hydrops fetalis, Respiratory insufficie... OMIM:600972
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... ORPHA:2092
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ... OMIM:614294
Diaphanospondylodysostosis
Respiratory distress, Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax... ORPHA:66637
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Pectus excavatu... OMIM:219100
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Thoracolumbar scoliosis, 2-3... ORPHA:2437
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Scoliosis, Hemivertebrae, Congenital diaphragmatic hernia ORPHA:370079
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Short ... OMIM:222448
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus... OMIM:208050
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Aspiratio... OMIM:618651
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... ORPHA:251071
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metaca... OMIM:166300
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Respiratory insuffici... ORPHA:238329
Kniest Dysplasia
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... OMIM:156550
Zaki Syndrome
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad... OMIM:619648
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atr... OMIM:601186
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Repeated ... OMIM:617602
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Pectus carinatu... ORPHA:363705
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... OMIM:616037
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Missing ribs, Respiratory insufficiency, Abnormal tricuspi... ORPHA:1759
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... ORPHA:3099
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... OMIM:615482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... OMIM:253700
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Abnormal cardiac septum mo... ORPHA:2075
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Congenital diaphrag... OMIM:200980
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Ferguson-Bonni Neurodevelopmental Syndrome
Pectus excavatum, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary arter... OMIM:619699
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy ORPHA:26792
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, Pectus excavatum, 3-4 fin... OMIM:612530
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly,... ORPHA:2519
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Dyspnea, Cardiomyopathy, Pallor, Cough ORPHA:3386
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Inguinal hernia, Absent in utero ossificati... OMIM:608022
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum a... ORPHA:2257
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Polyhydramnios, Missing ribs, Dyspnea, Abnormal rib morphol... ORPHA:2759
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Pallor ORPHA:2786
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor ORPHA:49827
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Vertebra... ORPHA:373
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Cardiomegaly, Pericardial effusio... OMIM:115197
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Sandal gap, Redundant ski... OMIM:613177
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r... OMIM:314390
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia... OMIM:614679
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hip dysplasia, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Seckel Syndrome 9
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Asthma, Atrial septal... OMIM:616777
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Congenital diaphragmatic hernia, Postaxial polydactyly, Short neck, Polyhydram... OMIM:616546
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal cardiac septum... ORPHA:2059
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Achilles tendon ... ORPHA:363528
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Pallor ORPHA:90064
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Limb Body Wall Complex
Ventral hernia, Thoracoabdominal wall defect, Ventricular septal defect, Diastasis recti, Congeni... ORPHA:2369
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... OMIM:154400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Idiopathic Pulmonary Hemosiderosis
Crackles, Cardiomegaly, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough ORPHA:99931
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Absent thumb, Short neck, Short thumb, Short 1st metacarpal, Hypoplasi... OMIM:609053
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Bifid thoracic verte... ORPHA:268249
Scimitar Syndrome
Respiratory distress, Hypoplasia of the diaphragm, Hernia, Cough, Atrial septal defect, Single ve... ORPHA:185
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... OMIM:600001
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Inguinal hernia, Short femur, Bowing of the long bo... OMIM:613848
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit... ORPHA:1780
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Short neck ORPHA:1832
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Short neck... OMIM:304110
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:1647
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Dilated... ORPHA:367
Congenital Myopathy 21 With Early Respiratory Failure
Inguinal hernia, Spinal rigidity, Dyspnea, Hypertrophic cardiomyopathy, Respiratory failure, Noct... OMIM:620326
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Inguinal hernia, Edema of the dorsum of feet, Tapered finger, Edema of the ... ORPHA:544503
Fetal Alcohol Syndrome
Atrial septal defect, Vertebral segmentation defect, Congenital diaphragmatic hernia ORPHA:1915
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... ORPHA:2255
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Dehydration, Cardiomyopathy, Myopathy, Reduced muscle carniti... OMIM:212140
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Scoliosis OMIM:618238
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Respiratory distress, Oligohydramnios OMIM:616733
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... ORPHA:596
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Transposition of the great arteries... OMIM:313850
Meacham Syndrome
Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl... OMIM:608978
Achondroplasia
Respiratory distress, Polyhydramnios, Bowing of the legs, Femoral bowing, Narrow greater sciatic ... OMIM:100800
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl... OMIM:217980
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,... ORPHA:1001
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Abnormal femur morphology, Abnormal fibula morp... ORPHA:2063
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipit... ORPHA:536467
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Scoliosis OMIM:300934
Esophageal Atresia
Omphalocele, Respiratory distress, Ventricular septal defect, Polyhydramnios, Laryngotracheomalac... ORPHA:1199
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b... OMIM:271225
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Ne... OMIM:619003
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, 2-3 toe... OMIM:618454
Pagod Syndrome
Omphalocele, Death in infancy, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Sit... ORPHA:991
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... OMIM:615444
Lowry-Maclean Syndrome
Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Cornelia De Lange Syndrome 1
Inguinal hernia, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Hiatus he... OMIM:122470
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... OMIM:208530
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Abnormal heart valve morp... ORPHA:280
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, Increased variability in mus... OMIM:604377
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finge... ORPHA:1272
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, Genera... OMIM:620369
Optic Atrophy 1
Pallor OMIM:165500
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... OMIM:260400
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Asbestos Intoxication
Reduced vital capacity, Edema, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheez... ORPHA:2302
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... OMIM:618280
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi... OMIM:306955
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, ... ORPHA:3342
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Hip ... OMIM:618846
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Polyhydramnios, Abnorma... ORPHA:818
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Marden-Walker Syndrome
Inguinal hernia, Decreased muscle mass, Arachnodactyly, Dextrocardia, Short neck, Kyphosis, Conge... OMIM:248700
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheo... ORPHA:2745
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ne... OMIM:183900
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Hypoplastic cervical vertebrae, At... OMIM:616364
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Polyhydramnios, Pectus carinatum, Vertebral segmentation defect,... OMIM:312870
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Dextrocardia, Brachydactyly ORPHA:2863
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Polyh... OMIM:114290
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... OMIM:615042
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Pulmonary edema, Apnea, Edema, Cardiom... ORPHA:79330
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... OMIM:618469
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul... ORPHA:3097
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Widening of cervical spinal canal, Neonatal death OMIM:253310
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Edema, Polyhydramnios, Hypoplasia o... OMIM:607143
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Short neck, Hypoplast... ORPHA:2347
7Q11.23 Microduplication Syndrome
Inguinal hernia, Sacral dimple, Ventricular septal defect, Congenital diaphragmatic hernia, Short... ORPHA:96121
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, A... ORPHA:468678
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Po... OMIM:620025
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Atrial s... OMIM:619383
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Constricting Bands, Congenital
Omphalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Gastroschisis, Scoliosis... OMIM:217100
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... OMIM:613390
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Brachydactyly, Overlapping toe, Postaxial p... ORPHA:221120
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Congenital fibrosis of e... OMIM:157900
Pseudotrisomy 13 Syndrome
Omphalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular... OMIM:264480
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Restr... OMIM:600462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Dehydration ORPHA:79312
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... OMIM:157800
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Petechiae, ... OMIM:608013
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl... OMIM:617303
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Abnormal metaphyseal trabeculation, Flared me... OMIM:224300
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Flexion contracture, Thin r... OMIM:312150
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Cough, Chronic sinusitis OMIM:619607
Holoprosencephaly
Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm... ORPHA:2162
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia OMIM:618067
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Kyphosis, Tibial bowin... OMIM:616482
Kabuki Syndrome
Congenital diaphragmatic hernia, Vertebral clefting, Small hand, Hip dislocation, Hemivertebrae, ... ORPHA:2322
Peripartum Cardiomyopathy
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... ORPHA:563
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Respiratory insufficiency OMIM:601612
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Trac... OMIM:202650
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal ilium morphology,... OMIM:614080
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Apla... ORPHA:1686
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol... ORPHA:314655
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... OMIM:211530
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Flexion contracture, Thin r... OMIM:253290
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp... ORPHA:26793
Chitayat Syndrome
Hallux valgus, Respiratory distress, Polyhydramnios, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis... ORPHA:98914
Fryns Syndrome
Omphalocele, Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proximal pl... OMIM:229850
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... OMIM:620076
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Cerebral edema, Facial erythema ORPHA:439218
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia, ... OMIM:108720
Diamond-Blackfan Anemia 1
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, ... OMIM:105650
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa... OMIM:619334
Lymphatic Malformation 12
Inguinal hernia, Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphe... OMIM:620014
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... ORPHA:3015
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Short neck, Polyhydramnios, Thoracic dysplasia, Narrow chest, Short pa... OMIM:269860
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal heart morphology... ORPHA:2041
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... ORPHA:454836
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... OMIM:615994
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Evans Syndrome
Dyspnea, Pallor, Epistaxis, Petechiae ORPHA:1959
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Breath-Holding Spells
Pallor OMIM:607578
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Polyhydramnios, Undulate r... OMIM:618188
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Prominent fingertip pads, Sandal gap, Dysplastic tricuspid valve, Small han... OMIM:612863
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Joubert Syndrome With Ocular Defect
Apnea, Dextrocardia, Hand polydactyly, Foot polydactyly, Scoliosis, Abnormal vertebral morphology... ORPHA:220493
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus exc... OMIM:614437
C Syndrome
Omphalocele, Death in infancy, Sacral dimple, Toe syndactyly, Redundant skin, Congenital diaphrag... ORPHA:1308
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... OMIM:608799
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... OMIM:301044
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Congenital Enterovirus Infection
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... ORPHA:292
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... ORPHA:699
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Succinic Acidemia
Respiratory distress OMIM:600335
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Flexion contracture,... ORPHA:505248
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Iniencephaly
Omphalocele, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Polyhydramnios, ... ORPHA:63259
Dominant Beta-Thalassemia
Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Dilated cardiomyopathy, Skin ul... ORPHA:231226
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Meier-Gorlin Syndrome 1
Respiratory distress, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, Hemivertebr... OMIM:224690
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic ... ORPHA:2556
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension, Pedal edema ORPHA:422
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Pectus excavatum, Kyphosis, Hydrops fetalis, Abn... ORPHA:79329
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Hypoplastic left heart, Apical muscular ventricula... OMIM:301022
Catel-Manzke Syndrome
Short humerus, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Short ... OMIM:616145
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Clin... OMIM:135900
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Short neck, Pectus excavatum, Long fingers, Hip dislocat... ORPHA:96092
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... ORPHA:261112
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aortic valve a... ORPHA:2299
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Cleidocranial Dysplasia 1
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... OMIM:119600
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Pulmonary edema, Left atrial enlargement, Dyspnea, Pulmonary venous hypertension, Inte... ORPHA:75249
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Pulmo... ORPHA:3260
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Edema, Tachypnea, Dilated cardiomyopathy, Dehydration, Pallor ORPHA:20
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Pallor, Lymphedema ORPHA:3226
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Facial edema, Poly... OMIM:616843
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... OMIM:610536
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Aplasia ... OMIM:617088
Scarf Syndrome
Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:3134
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... OMIM:220110
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:254913
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Pedal edema, Hypoxemia, Atri... ORPHA:439
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Pallor OMIM:615631
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Adducted thumb ORPHA:50810
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Myopathy, Mitochondrial, And Ataxia
Pectus excavatum, Multiple lipomas, Distal amyotrophy, Pallor, Scoliosis, Increased variability i... OMIM:617675
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Abnormal pulmonary valve morphology, Abnormal rib morphology, Ab... ORPHA:667
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Redundant neck skin, Overlapping toe, Short hallux, Sh... ORPHA:3309
Malaria
Respiratory distress ORPHA:673
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Arachn... ORPHA:2461
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Oligohydramnios ORPHA:261304
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress, Polyhydramnios ORPHA:990
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pedal edema, Pulmonary ar... ORPHA:99095
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Respiratory insufficiency, Oligohydramnios, Congenital diaphragmatic hernia, Abnormal heart morph... OMIM:617641
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ... ORPHA:96097
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory system physio... ORPHA:90051
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hypoxemia, Respiratory failure, ... ORPHA:70587
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Dehydration, Cardiomyopathy, Pallor, Aspiration ORPHA:2131
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Dilated cardiomyopathy, Death in adolescence, Clubbing of finger... OMIM:605676
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... ORPHA:1329
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Dehydration OMIM:251000
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Short tibia, Limb hypertonia OMIM:620306
Osteoglophonic Dysplasia
Respiratory distress, Inguinal hernia, Short metacarpal, Hypoplastic scapulae, Camptodactyly of f... OMIM:166250
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal widening of metacarpals, Co... OMIM:602535
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Bicuspid aortic valve, Dext... ORPHA:536545
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:309801
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis ORPHA:37612
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislo... OMIM:300968
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short neck, Short thumb, Part... ORPHA:124
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs OMIM:612852
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia OMIM:112310
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Myositis, Sinusitis, Pneumonia, Edema, Myocarditis, Tachypnea, S... ORPHA:36234
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Cutaneous ... OMIM:311900
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal rib morphology, Abnorm... ORPHA:1666
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... OMIM:312830
Leishmaniasis
Rhinitis, Pallor, Skin ulcer ORPHA:507
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodac... ORPHA:508488
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Polyhydramnios, Perimembranous ventricular septal defect, Pa... OMIM:606812
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Crackles, Facial edema, Myocarditis, Nonproductive cough, Periorbi... ORPHA:319213
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ... ORPHA:199
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Beta-Ketothiolase Deficiency
Edema, Tachypnea, Dehydration, Pallor, Cough ORPHA:134
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... OMIM:615512
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rha... ORPHA:116
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Absent thumb, Absent radius, Short thumb, Flexion contr... OMIM:227645
Johanson-Blizzard Syndrome
Death in infancy, Abnormal cardiac septum morphology, Dextrocardia, Edema ORPHA:2315
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Pulmonary arterial hypertension OMIM:619272
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Tachypnea, Pallor, Cough, Pulmonary edema ORPHA:137675
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles OMIM:619793
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Degcags Syndrome
Polyhydramnios, Pallor, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale, Sy... OMIM:619488
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... ORPHA:209905
Denys-Drash Syndrome