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Gene: Hoxb4 MGI:96185

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox B4
Synonyms:
Hox-2.6

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia 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
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis 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
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
8p23.1 deletion syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula... DECIPHER:39
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Redundant skin, Congenital diaphragmatic hernia, Arachnodactyly,... ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Cutis laxa, Hip dislo... OMIM:614100
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... OMIM:613630
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
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, Sandal gap, Camptodactyly of finger, Congenital ... ORPHA:1520
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Vertebral seg... ORPHA:1166
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal form of the vertebral bodies, ... ORPHA:2311
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hernia, Narrow greater sciat... OMIM:263210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ... OMIM:300580
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
Bifid sternum, Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Congenital diaphragmatic... ORPHA:1488
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atrial... OMIM:300887
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... ORPHA:958
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... OMIM:619751
Pericardial And Diaphragmatic Defect
Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard... ORPHA:2847
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Xp22.13P22.2 Duplication Syndrome
Small hand, Umbilical hernia, Congenital diaphragmatic hernia, 2-3 toe syndactyly, Short neck, Pe... ORPHA:284180
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Trisomy 1Q
Toe syndactyly, Short thorax, Preaxial hand polydactyly, Camptodactyly of finger, Increased nucha... ORPHA:261344
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Respiratory distress,... OMIM:617895
Coffin-Siris Syndrome 3
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, Short distal phalanx ... OMIM:614608
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Generalized ... OMIM:613561
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscle fiber splitting, Right ventricular dilatat... OMIM:253700
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal peri... ORPHA:1335
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Jansen-De Vries Syndrome
Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Hyperlordosis, Short... OMIM:617450
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Acrocallosal Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Inguinal hernia, Triphalangeal thu... ORPHA:36
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Clino... OMIM:601163
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi... OMIM:245600
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect ORPHA:2143
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Abnormal heart morphology, Abnormal thumb morphology, Congenital diaphr... ORPHA:94065
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Abnormal heart morphology, Congenital diaphragmatic hernia, Abnorm... ORPHA:261197
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Sacral dimple, Oligohydramnios, Inguinal herni... OMIM:609029
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu... OMIM:614399
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Congenital Diaphragmatic Hernia
Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia... ORPHA:2911
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Sacral dimple, Oligohydramnios, Inguinal herni... ORPHA:96170
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia... OMIM:618022
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Congenital diaphr... ORPHA:887
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Flared metaphysi... OMIM:187601
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Perching Syndrome
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture OMIM:617055
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni... OMIM:606842
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Broad thumb, Brachydactyly OMIM:300978
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Cervical ribs ORPHA:66630
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker bottom foot, ... OMIM:618393
Mosaic Trisomy 1
Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbow flexion contra... ORPHA:1692
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Flared elbow metaphyses, Short long bone, Polyhydramnios, Mac... ORPHA:1423
Congenital Heart Block
Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, Patent foramen ovale, Peripheral e... ORPHA:60041
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Oligohydramnios, C... ORPHA:1834
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Kyphosis, Inguinal hernia, Uterine prolapse, Tapered finger, Cut... OMIM:303600
Focal Dermal Hypoplasia
Erythema, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septal ... ORPHA:2092
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Ab... ORPHA:66637
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septal def... OMIM:614294
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Aplasia of the left hemidiaphragm, 2-3 fin... ORPHA:2437
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Serkal Syndrome
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Short sternum, Omph... OMIM:222448
Multiple Pterygium Syndrome, Escobar Variant
Patellar aplasia, Congenital diaphragmatic hernia, Arachnodactyly, Short neck, Thoracolumbar scol... OMIM:265000
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea ORPHA:141152
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Pectus carinatum, Umbilical hernia, Inguinal hern... OMIM:208050
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Scoliosis, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:370079
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Broad thumb, Enlarged thorax, Tetralogy of Fallot, Hypertrophic cardiomyo... ORPHA:251071
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Situs inversus totalis... OMIM:613686
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Multicentric Carpotarsal Osteolysis Syndrome
Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... ORPHA:166272
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Dumbbell-shaped femur, Flared metaphysis, Umbilic... OMIM:156550
Zaki Syndrome
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ... OMIM:619648
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia OMIM:254120
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Brachydactyly, Abnormal cardiac septum morphology, Postaxial han... ORPHA:2075
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Ferguson-Bonni Neurodevelopmental Syndrome
Pectus excavatum, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent fora... OMIM:619699
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Pectus carinatum, Macroglossia, Premature skin wrinkli... ORPHA:363705
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Orthopnea, Exertional dyspnea, Lipoatrophy, Edema ORPHA:154
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Congenital diaphragmatic hernia, Vertebral segmentation defect, Ventricular septal de... OMIM:612530
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia, Ventricular... OMIM:613309
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic sten... ORPHA:2414
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Umbilical hernia, Absent or minimally ossified vertebral bodies, ... OMIM:600972
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Congenital Heart Defects And Skeletal Malformations Syndrome
Sandal gap, Congenital diaphragmatic hernia, Ventricular septal defect, Arachnodactyly, Atrial se... OMIM:617602
Halperin-Birk Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Death in childhood, Perimembr... OMIM:618651
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Pallor, Kyphosis ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Atrial septal defect, Ventricular septal defect ORPHA:49827
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased variability in muscle fiber diameter, Increased connective tissue... ORPHA:238329
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Tetralogy of Fallot, Inguinal hernia, Congenital diaphragmatic hernia, T... OMIM:601186
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... OMIM:115197
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Respiratory distress, Broad ribs, Redundant... ORPHA:2519
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Death in infancy OMIM:616974
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept... ORPHA:373
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Pallor, Myocarditis, Dyspnea, Edema ORPHA:3386
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... OMIM:605809
Diaphanospondylodysostosis
Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Respiratory distress, Oli... OMIM:608022
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Fryns Syndrome
Short distal phalanx of finger, Narrow chest, Tetralogy of Fallot, Congenital diaphragmatic herni... ORPHA:2059
13Q12.3 Microdeletion Syndrome
Camptodactyly, Hip dysplasia, Congenital diaphragmatic hernia, Kyphoscoliosis ORPHA:412035
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Preaxial polydactyly, Congenital diaphragmatic hernia, Short rib... OMIM:616546
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Congenital diaphragmatic hernia, Short neck, Achilles tendon contr... ORPHA:363528
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Erythema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebra... ORPHA:100057
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla... OMIM:187600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Respiratory distress, Polyhydramnios, Arachnodactyly, Miss... ORPHA:2759
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig... OMIM:254210
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Congenital diaphragmatic hernia, Ventricular septa... OMIM:154400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Dyspnea, Right ventricular dilatation, Pedal edema ORPHA:422
Limb Body Wall Complex
Progressive congenital scoliosis, Broad hallux, Thoracic hypoplasia, Abnormality of the vertebral... ORPHA:2369
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... OMIM:620011
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Absent thumb, Short thumb, Pallor, Patent foramen ovale, Ventricular septal... OMIM:609053
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Paroxysmal dyspnea, Abnormal cardiac atrium morphology, Peripheral edema,... ORPHA:563
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Oligohydramnios, Redundant skin, Inguinal hernia, Congenital diaphragmatic hern... OMIM:219100
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Inguinal hernia, Edema of the dorsum of hands, Hip dys... ORPHA:544503
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Cervical ribs, Tetralogy of Fallot... OMIM:600001
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Cervical C2/C3 v... ORPHA:1780
Craniofrontonasal Syndrome
Abnormal rib cage morphology, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Umbilical hern... OMIM:304110
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Oligohydramnios, Flexion contracture OMIM:616733
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra... ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Sandal gap, Umbilical hernia, Ascites, Redundant skin, Inguinal he... OMIM:613177
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Vertebral segmentation defect ORPHA:1915
Thoraco-Abdominal Enteric Duplication
Missing ribs, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... ORPHA:3099
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Congenital diaphragmatic hernia,... ORPHA:1001
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Trisomy 18
Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnormal hip bone morpholo... ORPHA:3380
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Aplasia of the left hemidiaphragm OMIM:618238
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, My... OMIM:212140
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Oligohydramnios, Inguinal hernia, Death in childhood, Neonatal death, Arachn... OMIM:614437
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Cervical ribs, Respiratory dis... ORPHA:2255
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor... OMIM:313850
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abnormal sternum morphology, Umbilical hernia, Striae distensae, Inguina... OMIM:619656
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Generalized edema, Generalized amyotrophy, Decreased muscle mass, Res... OMIM:271225
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Dentinogenesis imperfecta, Thoracic hypoplasia, Respirato... OMIM:613848
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal femur morphology, Congenital diaphragmatic hernia, Inguinal hernia, Abnormal fibula morp... ORPHA:2063
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Scoliosis, Clinodactyly OMIM:300934
Seckel Syndrome 9
Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect OMIM:616777
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory distress, Ascites, Abnormal cardiomy... ORPHA:367
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Short thumb, Abnormality of the vertebral column, Preaxial hand po... ORPHA:280
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pagod Syndrome
Hypoplastic left heart, Abnormal clavicle morphology, Situs inversus totalis, Congenital diaphrag... ORPHA:991
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea ORPHA:1832
Lowry-Maclean Syndrome
Atrioventricular canal defect, Congenital diaphragmatic hernia, Inguinal hernia ORPHA:2409
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Congenital diaphragmatic hernia, Ventricular septal defect, Foot polyda... ORPHA:268249
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Short neck, Spin... OMIM:620369
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale OMIM:263000
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Aymé-Gripp Syndrome
Abnormal thorax morphology, Inguinal hernia, Congenital diaphragmatic hernia, Supernumerary ribs,... ORPHA:1272
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic left... OMIM:306955
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Nocturnal hypoventilation, Inguinal hernia, Dyspnea, EMG: myopathic ... OMIM:620326
Scimitar Syndrome
Hypoplastic left heart, Abnormality of the vertebral column, Abnormal hemidiaphragm morphology, R... ORPHA:185
Cornelia De Lange Syndrome 1
Finger aplasia, Hypoplastic radial head, Elbow flexion contracture, Inguinal hernia, Congenital d... OMIM:122470
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Metaphy... OMIM:260400
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Pericardial effusion, Pleural effusion ORPHA:411703
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular septa... ORPHA:818
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Hi... OMIM:618846
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, R... ORPHA:536467
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Clinodactyly, Cardiomyopathy, Respiratory distress, Redundant neck skin, Hernia, Sh... OMIM:217980
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricula... OMIM:618454
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Tachypnea, Secundum atrial septal defect, Neonatal death OMIM:620203
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Right ventricular hypertrophy ORPHA:70589
Mogs-Cdg
Generalized edema, Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic sc... ORPHA:79330
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Centrally nucleated skeletal muscle fibers, Respiratory distress, Death in infancy, Ne... OMIM:300219
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy... OMIM:604377
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Abnormal sternum morphology, Decreased mus... OMIM:248700
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, Dextrocardia, Camptodactyly of finger ORPHA:2863
White-Sutton Syndrome
Broad thumb, Hypoplastic cervical vertebrae, Congenital diaphragmatic hernia, Patent foramen oval... OMIM:616364
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion, Abnormal thorax morphology ORPHA:50251
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,... ORPHA:596
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Scoliosis, Right ventricular dilatation, Myopathy ORPHA:369847
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death OMIM:253310
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
White-Sutton Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Shor... ORPHA:468678
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Scoliosis, Fus... OMIM:618469
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Rocker bottom foot, Scoliosis, Respiratory distress, Hypertrophic cardiom... ORPHA:3342
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial insta... OMIM:183900
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Respiratory distress, Tetralogy of Fallot, Pallor, V... ORPHA:1199
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Polyhydramnio... ORPHA:2347
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Apnea, Tac... ORPHA:2257
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Respiratory distr... OMIM:617102
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory distress, Myopathy, Spinal muscular atrophy, Weakness of fac... ORPHA:254875
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Respiratory distress, Hypertrophic cardiomyopathy, Overlapping toe, Overlapping... OMIM:619383
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Congenital diaphragmatic hernia, Ventricular septal defect, 2-3 finger syndactyly, A... OMIM:312870
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Sandal gap, Respiratory distress, Butterfly vertebrae, Short humerus, Patent foramen... OMIM:607143
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation OMIM:614022
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... ORPHA:254864
Idiopathic Pulmonary Hemosiderosis
Dyspnea, Cardiomegaly, Pallor ORPHA:99931
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Death in infancy, Neonatal death, Hypoplasi... OMIM:613390
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Herniation of inter... OMIM:157800
Constricting Bands, Congenital
Abnormal rib cage morphology, Hand polydactyly, Omphalocele, Ectopia cordis, Scoliosis, Bladder e... OMIM:217100
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis... OMIM:157900
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ov... ORPHA:221120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular septal defec... ORPHA:96121
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Situs inversus totalis, Dextrocardia OMIM:606763
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Scoliosis, Death in infancy OMIM:615042
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Anasarca, Cardiomyopathy, Respiratory distress, Biventricular hypertrophy, Hypertro... OMIM:261740
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, 11 pairs of ribs, Complete atrioventricular canal defect, Ventricular... OMIM:264480
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Thoracic hypoplasia, Respiratory distress, Ascites, Apnea, Pe... OMIM:608013
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:611812
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Patent foramen ovale, Ventricular s... ORPHA:2745
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Short finger, Hypoplastic heart, Amyoplasia, Vertebral fusion, Polyhydramnios, Abnorma... OMIM:312150
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... OMIM:186500
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration ORPHA:77260
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Mucopolysaccharidosis-Plus Syndrome
Pectus carinatum, Macroglossia, Respiratory distress, Hypertrophic cardiomyopathy, Acetabular dys... OMIM:617303
Dysosteosclerosis
Platyspondyly, Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... OMIM:224300
Kabuki Syndrome
Short 5th finger, Small hand, Abnormal form of the vertebral bodies, Short middle phalanx of fing... ORPHA:2322
Optic Atrophy 1
Pallor OMIM:165500
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis OMIM:258850
Immunodeficiency 95
Respiratory distress OMIM:619773
Mosaic Trisomy 9
Finger clinodactyly, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroe... ORPHA:99776
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Chylothorax, Skeletal muscle atrophy, Increased e... OMIM:620278
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Short distal phalanx of finger, Congenital diaphragmatic hernia, Atria... OMIM:614080
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Respiratory distress, Mitral valve prolapse, Dy... OMIM:612863
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Agnathia-Otocephaly Complex
Respiratory distress, Situs inversus totalis, Secundum atrial septal defect, Polyhydramnios OMIM:202650
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Short finger, Hypoplastic heart, Amyoplasia, Vertebral fusion, Polyhydramnios, Abnorma... OMIM:253290
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, Apnea, Pallor ORPHA:439218
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Bell-shaped thorax, Neonatal death, Short neck, Aplasia/Hypoplasi... OMIM:108720
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Respiratory distres... ORPHA:210122
Holoprosencephaly
Abnormal form of the vertebral bodies, Tetralogy of Fallot, Abnormal pulmonary valve morphology, ... ORPHA:2162
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin... ORPHA:98915
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Peripheral edema, Left atrial enlargement, Tachypnea, Left ventricular hypertro... ORPHA:99106
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Endocardial fibroelastosis, Neonatal death, Aplasia of the ulna, Hydrops fetalis OMIM:276822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Hyperlordosis, Scapular winging OMIM:600462
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Exercise-induced rhabdomyolysis... ORPHA:26793
Distal Deletion 15Q
Hypoplastic left heart, 2-3 toe cutaneous syndactyly, Small hand, Short distal phalanx of finger,... ORPHA:1596
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Narrow chest, Respiratory distress, Lumbar hyperlordosis, Femoral bowing, Redundan... OMIM:616482
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Bifid... OMIM:105650
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Chylothorax, Prominent ... OMIM:229850
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis... ORPHA:226313
Hyperparathyroidism, Transient Neonatal
Thin ribs, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Respiratory distress... OMIM:618188
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Breath-Holding Spells
Pallor OMIM:607578
Chitayat Syndrome
Respiratory distress, Hallux valgus, Brachydactyly, Polyhydramnios, Pectus excavatum OMIM:617180
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Abnormal heart morphology, Apnea, Hypoventilation, Polydactyly ORPHA:314655
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Evans Syndrome
Dyspnea, Pallor, Petechiae ORPHA:1959
Retinitis Pigmentosa 51
Pallor, Polydactyly OMIM:613464
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... OMIM:301044
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Muscular dystrophy, Upper limb undergrowth, Respiratory di... OMIM:608799
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
C Syndrome
Toe syndactyly, Redundant skin, Congenital diaphragmatic hernia, Death in infancy, Hand polydacty... ORPHA:1308
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Abnormal pattern of respiration, Apnea, Hand polydactyly, Dextroca... ORPHA:220493
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, 11 pairs of ribs, Ventricular septal defect, 2-3 toe syndactyly, Aortopulmonar... OMIM:620025
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Respiratory distress, Pleural effusion, Polyhydramnios, Myocarditi... ORPHA:292
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor, Bowing of... ORPHA:231226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Succinic Acidemia
Respiratory distress OMIM:600335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Mgat2-Cdg
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Brachydactyly, Pectus... ORPHA:79329
Iniencephaly
Absent vertebra, Congenital diaphragmatic hernia, Hyperlordosis, Omphalocele, Polyhydramnios, Roc... ORPHA:63259
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Abnormal den... ORPHA:2556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Polydactyly, Apical muscular ventricular... OMIM:301022
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Pectus carinatum, Short toe, Umbilical hernia, Ulnar deviation o... OMIM:616145
Radio-Renal Syndrome
Chylothorax, Abnormal form of the vertebral bodies, Respiratory distress, Pleural effusion, Short... ORPHA:3015
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Short foot, Short to... OMIM:269860
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ventricular septal defect, At... OMIM:135900
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Edema, Apnea, Pallor, Tachypnea, Dehydration ORPHA:20
Congenital Myasthenic Syndrome
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni... ORPHA:98914
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Genu valgum, P... OMIM:224690
Aortic Arch Interruption
Respiratory distress, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, B... ORPHA:2299
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Contractures of the large joints, Abnormal heart morphology, Tetralogy... ORPHA:96092
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis ORPHA:45452
Alg9-Cdg
Hypoplasia of the musculature, Flared metaphysis, Abnormal heart morphology, Oligohydramnios, Ven... ORPHA:79328
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Co... ORPHA:261112
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Preaxial hand polydactyly, Respiratory distress, Ventricular septal defect, Atria... OMIM:610536
Atrial Septal Defect, Sinus Venosus Type
Dyspnea, Exertional dyspnea, Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... OMIM:215140
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Umbilical hernia, Diastasis recti, Ingui... ORPHA:3134
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Respiratory distress, Atrioventricular canal defect, Horizon... OMIM:617088
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m... OMIM:305600
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Multiple lipomas, Pect... OMIM:617675
Malaria
Respiratory distress ORPHA:673
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Lipoatrophy ORPHA:261304
Microlissencephaly-Micromelia Syndrome
Respiratory distress, 11 pairs of ribs, Short neck, Adducted thumb, Polyhydramnios, Palpebral edema ORPHA:50810
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca... OMIM:119600
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Marden-Walker Syndrome
Pectus carinatum, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Arth... ORPHA:2461
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Situs inversus totalis, Polyhydramnios ORPHA:990
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ... ORPHA:348
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, At... ORPHA:99125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pectus carinatum, Respiratory distress, Hypertrophic cardiomyopathy, Abnormal heart morphology, L... ORPHA:505248
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Brown-Vialetto-Van Laere Syndrome 1
Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han... OMIM:211530
Tetrasomy 5P
Respiratory distress, Overlapping toe, Redundant neck skin, Pericallosal lipoma, Short neck, Shor... ORPHA:3309
Lymphatic Malformation 6
Facial edema, Generalized edema, Cellulitis, Chylothorax, Lymphedema, Ascites, Pleural effusion, ... OMIM:616843
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Dys... ORPHA:439
Distal Duplication 5Q
Absent thumb, Ventricular septal defect, Hernia, Hypoplasia of the radius, Brachydactyly, Dextroc... ORPHA:96097
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Osteoglophonic Dysplasia
Platyspondyly, Hypoplastic scapulae, Broad thumb, Short thumb, Camptodactyly of finger, Respirato... OMIM:166250
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Death in early adulthood, Palmoplantar scaling... OMIM:605676
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Skeletal muscle atrophy, Angioedema, Swelling of proximal interphalangeal... ORPHA:3260
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Right ventricular dilatation OMIM:619705
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Scoliosis, Kyphoscoliosis ORPHA:37612
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi... OMIM:309801
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Pectus carinatum, Atlantoaxial instability, Congenital kyphoscoliosis... ORPHA:536545
Diamond-Blackfan Anemia
Absent thumb, Short thumb, Abnormality of the thenar eminence, Abnormal heart morphology, Pallor,... ORPHA:124
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Respiratory distress, Postaxial polydactyly, Atrial septal defect, Hip dysplasia, Sho... OMIM:300968
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Respiratory distress, Apnea, Pallor, Facial hypotonia, Dehydration ORPHA:2131
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Boomerang Dysplasia
Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Fumarase Deficiency
Ascites, Pallor, Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect, P... OMIM:606812
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Tarp Syndrome
Clinodactyly, Tetralogy of Fallot, Oligohydramnios, Neonatal death, Postaxial polydactyly, Short ... OMIM:311900
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Apnea, Abnormal pulmonary valve morphology, Pallor, ... ORPHA:667
Scarf Syndrome
Pectus carinatum, Abnormal form of the vertebral bodies, Umbilical hernia, Diastasis recti, Ingui... OMIM:312830
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea, Atrial septal defect, Ventricular septal defect OMIM:610978
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor ORPHA:90037
Dextrocardia
Congenital hip dislocation, Abnormal heart morphology, Situs inversus totalis, Dextrocardia, Abno... ORPHA:1666
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Short 1st metacarpal, Oligodactyly, Increased nuchal translucency, Co... ORPHA:199
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hypertrophic cardiomyopathy, Death in childhood, Weakness of facial muscula... OMIM:220110
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Narrow chest, Synostosis ... ORPHA:289
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Cardiomyopathy OMIM:251000
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Short neck, Short hallux, Dysplastic aortic valve, Short 5th finger, A... ORPHA:508488
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Respiratory distress, Cardiomegaly, Limb hypertonia, Short femur OMIM:620306
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Congenital diaphragmatic hernia, V... OMIM:601803
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Laryngomalacia
Respiratory distress OMIM:150280
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Mixed-Type Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor ORPHA:90036
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Ventricular septal defect, Anemic pallor, Absent radius, Anterior wedg... OMIM:227645
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beckwith-Wiedemann Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Redundant skin, Inguinal hernia, Congenital diaphr... ORPHA:116
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Sepsis In Premature Infants
Pallor, Petechiae, Dyspnea, Nasal flaring, Purpura, Edema ORPHA:90051
Johanson-Blizzard Syndrome
Death in infancy, Abnormal cardiac septum morphology, Dextrocardia, Edema ORPHA:2315
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Ventricular sep... OMIM:602535
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Edema ORPHA:178320
Bacterial Toxic-Shock Syndrome
Cellulitis, Fasciitis, Respiratory distress, Ecchymosis, Myositis, Tachypnea, Scaling skin, Myoca... ORPHA:36234
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hernia OMIM:617641
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones OMIM:619793
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of the great arteri... OMIM:619657
Beta-Ketothiolase Deficiency
Tachypnea, Pallor, Dehydration, Edema ORPHA:134
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Prader-Willi Syndrome Due To Translocation
Small hand, Clinodactyly, Respiratory distress, Abnormal heart morphology, Overlapping toe, Clino... ORPHA:177907
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Hypop... OMIM:212093
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Atrioventricular canal defect, Situs inversus totalis, Mesocardia, Transpo... OMIM:605376
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Cold Agglutinin Disease
Pallor, Back pain ORPHA:56425
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Q Fever
Respiratory distress, Abnormal heart valve morphology, Pleural effusion, Purpura, Myocarditis, Pe... ORPHA:781
Avian Influenza
Respiratory distress, Pleural effusion, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Sh... OMIM:620113
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Inguinal hernia OMIM:619272
Histiocytoid Cardiomyopathy
Pallor, Ventricular septal defect, Cardiomegaly, Pulmonary edema, Tachypnea ORPHA:137675
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic... ORPHA:2752
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Sprengel anomaly, Dextrocardia OMIM:618929
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Anemic pallor, Absent radius, Complete dupl... OMIM:600901
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Exertional dyspnea, Orthopnea, Dyspnea, Right atrial enlargemen... ORPHA:99103
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... OMIM:164310
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, Hy... ORPHA:17
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Respiratory distress, Ecchymosis, Myocarditis, Periorbital edema... ORPHA:319213
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Slender finger OMIM:250940
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Scoliosis, Polyhydramnios, Contractures of the large joints ORPHA:329178
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy, Dehydration OMIM:251110
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Perlman Syndrome
Ascites, Congenital diaphragmatic hernia, Polyhydramnios, Hypoplasia of the abdominal wall muscul... OMIM:267000
Farber Disease
Skeletal muscle atrophy, Short toe, Abnormal sternum morphology, Short finger, Respiratory distre... ORPHA:333
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormal heart morphology, Anemic pallor, Absent radius, Complete dupl... OMIM:227650
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Abnormal clavicle morphology, Umbilical her... ORPHA:798
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Tetraamelia Syndrome 1
Abnormal clavicle morphology, Abnormal scapula morphology, Hypoplastic pelvis, Congenital diaphra... OMIM:273395
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Dry skin, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irregular vertebral en... ORPHA:99646
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left... ORPHA:365
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Facial diplegia OMIM:160900
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death OMIM:194080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Fa... ORPHA:308552
Tularemia
Respiratory distress, Pleural effusion ORPHA:3392
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Nasal flaring, Abnormal thorax morphology ORPHA:70587
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227982
Degcags Syndrome
Diaphragmatic eventration, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Sacral dimple,... OMIM:619488
Carpenter Syndrome 2
Broad thumb, Cutaneous finger syndactyly, Short neck, Atrial septal defect, Dextrocardia, Pectus ... OMIM:614976
Hereditary Angioedema Type 1
Facial edema, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, ... ORPHA:100050
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pleural effusion, Tachypnea, Dyspnea, Pleural empyema ORPHA:36238
Congenital Tracheomalacia
Intercostal retractions, Abnormal heart morphology, Tetralogy of Fallot, Apnea, Ventricular septa... ORPHA:95430
Autoimmune Hemolytic Anemia, Warm Type
Exertional dyspnea, Pallor ORPHA:90033
Von Hippel-Lindau Disease
Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb muscle weakn... ORPHA:892
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Unroofed coronary sinus, Dyspnea, Right atrial enlargement, Right ventricular... ORPHA:99104
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Floating-Harbor Syndrome
Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Umbilical... OMIM:136140
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Intercostal retractions, Abno... ORPHA:1329
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Refractory Anemia With Excess Blasts
Anemic pallor, Exertional dyspnea, Pedal edema ORPHA:86839
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Respiratory distress, Oligohydramnios, Death in infancy, Myopathy, Death... OMIM:615512
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Pallor, Myocarditis, Dyspnea, Pleural empyema, Edema ORPHA:544482
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral valve prolap... OMIM:142900
Incontinentia Pigmenti
Erythema, Pallor, Kyphoscoliosis, Supernumerary ribs, Scarring, Hemivertebrae OMIM:308300
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Abnormal skeletal muscle morphology ORPHA:142
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Scoliosis, Short thumb, Clinodactyly, Radial deviation of finger, Ove... OMIM:613406
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Short hallux, A... OMIM:616268
Waldenström Macroglobulinemia
Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood, Dehydration OMIM:246450
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan OMIM:620166
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Atrial sep... OMIM:180849
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Respiratory d... ORPHA:93259
Coccidioidomycosis
Atypical scarring of skin, Abnormality of the vertebral column, Respiratory distress, Broad ribs,... ORPHA:228123
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Viss Syndrome
Genu valgum, Mitral valve prolapse, Ventricular septal defect, Arachnodactyly, Contracture of the... OMIM:619472
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Letterer-Siwe Disease
Dyspnea, Pallor OMIM:246400
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Apnea, Posta... ORPHA:2886
Brain-Lung-Thyroid Syndrome
Respiratory distress, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Abno... ORPHA:209905
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fifth metatarsal, Slender finger, Asymmetry of the thorax, Cone-shaped epiphysis, Aplasia o... OMIM:619841
Nipah Virus Disease
Respiratory distress ORPHA:99825
Childhood Absence Epilepsy
Hyperventilation, Pallor ORPHA:64280
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Nasolacrimal Duct Cyst
Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Periorbit... ORPHA:141083
Restrictive Dermopathy
Thin ribs, Arthrogryposis multiplex congenita, Camptodactyly of finger, Increased anterioposterio... ORPHA:1662
Eisenmenger Syndrome
Bacterial endocarditis, Generalized edema, Respiratory distress, Abnormal heart morphology, Tetra... ORPHA:97214
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Kyphoscoliosis ORPHA:98805
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Absence of the sacrum, Atrioventricular canal defect, De... OMIM:270100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, Genu valgum, Oli... ORPHA:3206
Irida Syndrome
Pallor ORPHA:209981
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Inguinal hernia, Uterine prolapse, Ventricular septal defect, Cutis laxa, Dyspnea OMIM:123700
Turnpenny-Fry Syndrome
Pectus carinatum, Small hand, Narrow chest, Clinodactyly, Overlapping toe, Lumbar hyperlordosis, ... OMIM:618371
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Abnormal heart morphology, Partial duplicat... OMIM:227646
Slc35A1-Cdg
Respiratory distress, Cellulitis ORPHA:238459
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Abnormal myocardium morphology, Skin ulcer ORPHA:537
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea ORPHA:2707
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Respiratory distress, Oligohydramnios, Polyhydramnios, Ven... ORPHA:141127
Pfeiffer Syndrome Type 3
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Respiratory distress, Hallux varus, S... ORPHA:93260
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Stt3B-Cdg
Respiratory distress ORPHA:370924
Aregenerative Anemia
Dyspnea, Pallor ORPHA:101096
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, Polyhydramnios, Dehydration OMIM:616271
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Abnormal heart morphology, Hydrops fetalis, Dehydra... ORPHA:79282
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Exertional dyspnea, Right ventricular dilatation, Edema ORPHA:70591
Japanese Encephalitis
Skeletal muscle atrophy, Abnormal pattern of respiration, Respiratory distress, Elbow flexion con... ORPHA:79139
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Ragged-red muscle fibers, Episodic re... ORPHA:255210
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia, Atrial septal defect ORPHA:1051
Mosaic Variegated Aneuploidy Syndrome 1
Oligohydramnios, Short sternum, Short neck, Embryonal rhabdomyosarcoma, Atrial septal defect, Pul... OMIM:257300
Ulbright-Hodes Syndrome
Thin ribs, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia, Oligohydramni... ORPHA:3404
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Ascites, Abnormal hip joint morphology, Polyhydram... ORPHA:51608
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea ORPHA:1302
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Respiratory distress, Inguinal hernia, P... ORPHA:404448
Colchicine Poisoning
Respiratory distress, Dehydration, Myocarditis ORPHA:31824
Alfadhel Syndrome
Nasal flaring OMIM:620655
Retinitis Pigmentosa 75
Pallor OMIM:617023
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter OMIM:615595
Myelofibrosis
Purpura, Pallor OMIM:254450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Polyhydramnios, Neonatal death OMIM:619362
Microphthalmia, Syndromic 2
Aortic valve stenosis, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Umbilical hernia, ... OMIM:300166
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Macroglossia, Increased density of long bones, Short 1st metacarp... OMIM:269150
Tay-Sachs Disease
Pallor OMIM:272800
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Death in childhood, Hydrops fetalis, Dehydration OMIM:557000
Momo Syndrome
Short sternum, Short neck OMIM:157980
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertroph... OMIM:618733
Nocardiosis
Cellulitis, Respiratory distress, Abnormal heart valve morphology, Pleural effusion, Dyspnea, End... ORPHA:31204
Listeriosis
Respiratory distress, Rhabdomyolysis, Back pain, Myocarditis, Endocarditis, Pericarditis, Miscarr... ORPHA:533
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal de... OMIM:236680
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Umbilical hernia, Abnormal dental enamel morphology, Patent for... ORPHA:3310
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Momo Syndrome
Short sternum, Short neck, Femoral bowing, Congenital pseudoarthrosis of the clavicle ORPHA:2563
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia OMIM:277380
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... OMIM:619534
Non-Functioning Pituitary Adenoma
Increased intraabdominal fat, Pallor ORPHA:91349
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Dilated cardiomyopathy, Dehydration, Respiratory distress, Enamel ... ORPHA:79404
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Floating-Harbor Syndrome
Clinodactyly, Short thumb, Tetralogy of Fallot, Avascular necrosis of the capital femoral epiphys... ORPHA:2044
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Res... ORPHA:2554
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Respiratory distress, 11 pairs of ribs, Polyhyd... ORPHA:79500
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Overlapping toe, Redundant neck skin OMIM:123790
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Infantile Krabbe Disease
Respiratory distress, Shoulder girdle muscle weakness ORPHA:206436
Mercury Poisoning
Respiratory distress, Dyspnea ORPHA:330021
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Adenohypophysitis
Pallor ORPHA:95512
Choanal Atresia
Respiratory distress, Polydactyly ORPHA:137914
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Respiratory distress, Ove... ORPHA:480880
Neuroblastoma
Respiratory distress, Anemic pallor ORPHA:635
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Panhypophysitis
Pallor ORPHA:95513
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia ORPHA:1555
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea, Clubbing OMIM:610913
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Respiratory distress, Ascites, Corneal scarring, Acral ulceration OMIM:256810
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Limb muscle weakness ORPHA:79241
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Elliptocytosis 1
Pallor OMIM:611804
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Prolactinoma
Pallor ORPHA:2965
Cryptococcosis
Respiratory distress, Pleural effusion, Limb muscle weakness, Dyspnea, Cerebral edema ORPHA:1546
Multiple Endocrine Neoplasia Type 2
Pallor, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Proximal amyotrophy, Hyperlordosis ORPHA:653
Congenital Disorder Of Deglycosylation 1
Small hand, Respiratory distress, Intrinsic hand muscle atrophy, Facial hypotonia, Short foot, Sc... OMIM:615273
Neurooculorenal Syndrome
Short 1st metacarpal, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral v... OMIM:620305
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspnea, Back pain ORPHA:340
Turner Syndrome Due To Structural X Chromosome Anomalies
Genu valgum, Bicuspid aortic valve, Short neck, Atrial septal defect, Splayed toes, Abnormal fore... ORPHA:99413
Turner Syndrome
Genu valgum, Bicuspid aortic valve, Short neck, Atrial septal defect, Splayed toes, Abnormal fore... ORPHA:881
Mosaic Monosomy X
Genu valgum, Bicuspid aortic valve, Short neck, Atrial septal defect, Splayed toes, Abnormal fore... ORPHA:99228
Monosomy X
Genu valgum, Bicuspid aortic valve, Short neck, Atrial septal defect, Splayed toes, Abnormal fore... ORPHA:99226
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Ascites OMIM:617156
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Tachypnea, Cereb... ORPHA:31826
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Cocaine Intoxication
Respiratory distress, Rhabdomyolysis, Pulmonary edema, Tachypnea, Hyperventilation ORPHA:90068
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Plague
Skin ulcer, Respiratory distress, Dry skin, Endocarditis, Edema ORPHA:707
Gitelman Syndrome
Respiratory distress, Chondrocalcinosis, Pericardial effusion, Rhabdomyolysis ORPHA:358
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Knobloch Syndrome
Dextrocardia ORPHA:1571
Rodrigues Blindness
Nasal flaring OMIM:268320
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis ORPHA:37042
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Hypopnea, Petechiae ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Dry skin, Periorbital wrinkles OMIM:305100
Leptospirosis
Respiratory distress, Pleural effusion, Rhabdomyolysis, Pericarditis ORPHA:509
Tuberous Sclerosis Complex
Respiratory distress, Cardiac rhabdomyoma, Shagreen patch ORPHA:805
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Splenomegaly, Asplenia, Bile duct pro... OMIM:249000
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Brachydactyly, Short palm ORPHA:466943
Pmm2-Cdg
Platyspondyly, Anasarca, Lymphedema, Respiratory distress, Hypertrophic cardiomyopathy, Multiple ... ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Alkaptonuria
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones ORPHA:56
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Pallor OMIM:233450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Erythema, Narrow chest OMIM:614748
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Atypical scarring of skin, Xerostomia, Skin ulcer ORPHA:95455
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Dilated cardiomyopathy, Short toe, Short finger, Respiratory distress, Dorsocervical fat pad, Tho... ORPHA:64
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxb4.

No publications found that use IMPC mice or data for Hoxb4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hoxb4em1(IMPC)H Indel Mice
Hoxb4em2(IMPC)H Indel Mice
Hoxb4tm417843(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxb4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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