Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox B4
Synonyms:
Hox-2.6

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hoxb4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, 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
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Redundant skin, Arachnodactyly,... ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Cutis laxa, Arachnodactyly, Abnormal heart morphology, Hip dislo... OMIM:614100
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Tetralogy of Fallot, Lower ... OMIM:613630
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion con... ORPHA:1143
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat... OMIM:173800
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Atrioventricular canal defect, Abnorm... ORPHA:1120
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Neonatal death 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
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Clinodactyly of the 5th finger, Sa... ORPHA:1520
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Vertebral segmentation defect, Tet... ORPHA:1166
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Inguinal hernia, Abnorm... ORPHA:2311
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Polyhydramnios, Short long bone, O... OMIM:263210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Respiratory distress, Calf muscle hypertrophy, Scoliosis, Tr... ORPHA:86812
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Frontalis muscle weakness, Facial palsy, Type 1 fibers rela... OMIM:300580
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum, Omphalocele ORPHA:63260
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broa... ORPHA:380
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Proximal placement of thumb, Scoli... ORPHA:1488
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Atrial... OMIM:300887
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the... ORPHA:958
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Scoliosis, Short long bone, Death in adolescence, Bowing of the... OMIM:619751
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Abnormal sternum morphology, Aplasia of the left hemidiaphragm, ... ORPHA:2847
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction, Respiratory distress OMIM:613642
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, 2-3 toe syndactyly, Pectus excavatum, Umbilical herni... ORPHA:284180
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Congenital finger flexion contractures, Kyphosis... ORPHA:536516
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Short thorax, Abnormal rib morp... ORPHA:261344
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... OMIM:617895
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Inguinal hernia, Scoliosis, Abnormal heart morphology, Short distal... OMIM:614608
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrop... OMIM:613561
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Abnormal sternum morphology, Scoliosi... ORPHA:1335
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis, Brachydactyly, Bicuspid aortic valve, Ventricular se... OMIM:617450
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Triphalangeal thumb, Inguinal hern... ORPHA:36
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Om... OMIM:601163
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus ... OMIM:245600
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Ventricular septal defect, Omphalocele ORPHA:2143
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Proximal placement of thumb, Scoliosi... ORPHA:94065
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Abnormal vertebral morphology,... ORPHA:261197
Emanuel Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Torticollis, Inguinal hernia, Scoliosis, Truncus ... OMIM:609029
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosi... OMIM:614399
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Prominent sternum ORPHA:2140
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Asymmetry of the thorax,... ORPHA:2911
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Redundant neck skin, Sacral dimple, Inguinal her... ORPHA:96170
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Vacterl/Vater Association
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal intervertebral disk morphology, Finger ... ORPHA:887
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Perching Syndrome
Scoliosis, Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Dyspnea, N... OMIM:606842
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... ORPHA:1436
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Abnormal heart morphology, Broad thumb, Brachydactyly OMIM:300978
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs ORPHA:66630
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Prenatal death, Kyphosis, Camptodactyly, Neonatal death, Sh... OMIM:618393
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Rocker bottom foot, Deviation of the 5th toe, Finger clinodactyl... ORPHA:1692
Lethal Recessive Chondrodysplasia
Polyhydramnios, Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Ede... ORPHA:1423
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Peripheral edema, ... ORPHA:60041
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Coffin-Lowry Syndrome
Lumbar kyphosis, Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow ... OMIM:303600
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Short ribs, Hypoplastic pelvis, Split foot, Umbilical hernia, Ab... ORPHA:2092
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... ORPHA:66637
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Inguinal hernia, Coronary artery fistula, Pectus e... OMIM:614294
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Aplasia of the left hemidiaphragm, Ectrodac... ORPHA:2437
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Pulmonic stenosis ORPHA:139466
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Short sternum, Diaphragmatic eventration, Umbilical... OMIM:222448
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Dyspnea, Respiratory distress ORPHA:141152
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Pectus carinatum, Scoliosis, Ventricular hypert... OMIM:208050
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Arachnodactyly, Scoliosis, Hemivertebrae ORPHA:370079
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Metacarpal osteolysis, Carpal osteolysis, Metatarsal osteolysis,... OMIM:166300
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Respiratory distress, Scoliosis... ORPHA:166272
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Kniest Dysplasia
Platyspondyly, Inguinal hernia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossifica... OMIM:156550
Zaki Syndrome
Congenital diaphragmatic hernia, Broad distal phalanx of finger, Sacral dimple, Patent foramen ov... OMIM:619648
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress, Umbilical hernia OMIM:254120
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:91130
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Postaxial hand polydactyly, Kyphosis, Brachydactyly, ... ORPHA:2075
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Hypoplasia of the radius, H... OMIM:200980
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Pectus excavatum, Coronary-pulmonary arter... OMIM:619699
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Polyhydramnios, Premature skin wrinkling, Cardiomegaly, Respiratory distre... ORPHA:363705
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Exertional dyspnea, Orthopnea, Edema, Dilated cardiomyopathy, Myopathy ORPHA:154
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy, Respiratory distress ORPHA:26792
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Sandal gap, Scoliosis, Vertebral segmentation defect, Pectus exc... OMIM:612530
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Respiratory distress, Chylothorax, Lymphedema, Pleural effusion, A... OMIM:617300
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia, Supernumera... OMIM:613309
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Respiratory distress, Chylopericardium, Pleural effusion, Ascites, Pulmonic sten... ORPHA:2414
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Respiratory distress OMIM:619099
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Polyhydramnios, Hydrops fetalis, Ingui... OMIM:600972
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Pectus ex... OMIM:617602
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, In... OMIM:618651
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Pallor, Kyphosis ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Pallor, Ventricular septal defect ORPHA:49827
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Skeletal muscle atro... ORPHA:238329
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoi... ORPHA:2596
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Inguinal hernia, Hypoplastic left atrium, Truncus arteriosus, Pu... OMIM:601186
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Respiratory ... OMIM:115197
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial han... ORPHA:2519
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress, Left ventricular hypertrophy OMIM:616974
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Cardiomyopathy, Pectus excavatum, Death in infancy, Broad thumb,... ORPHA:373
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Dyspnea, Periorbital edema, Edema, Pallor ORPHA:3386
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Proximal placement of thumb, ... OMIM:314390
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:605809
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Inguinal hernia, Lumbosacral meningocele, Respirator... OMIM:608022
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Fryns Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Clinodactyly of the 5th finger, Narrow chest, Om... ORPHA:2059
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Camptodactyly, Hip dysplasia ORPHA:412035
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Narrow ch... OMIM:616546
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Polyhydramnios, Congenital finger flexion co... ORPHA:363528
Coronary Arterial Fistula
Atrial septal defect, Exertional dyspnea, Cardiomegaly, Bacterial endocarditis, Patent foramen ov... ORPHA:2041
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, ... ORPHA:100057
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupp... OMIM:187600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Respirator... ORPHA:2759
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st... OMIM:254210
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Absent radius, Overlap... OMIM:154400
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Dyspnea, Pedal edema ORPHA:422
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Abnormal thorax morphology, Ventral hernia, Apla... ORPHA:2369
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Fiber type grouping, ... OMIM:620011
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Patent foramen ovale, Short neck, Pallor, Abs... OMIM:609053
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Exertional dyspnea, Dyspnea, Abnormal atrioventricular valv... ORPHA:563
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Inguinal hernia, Redundant skin, Pectus excavatum, Cutis laxa, A... OMIM:219100
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of hands, Inguinal hernia, Respiratory distress, Metacarpophalangeal joint co... ORPHA:544503
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Cervical ribs, Perimembranous ventricular septal defect, Transpo... OMIM:600001
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... ORPHA:1780
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Spr... OMIM:304110
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Finger syndactyly, Missing ribs, Abnormal rib morphology, Congen... ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Inguinal hernia, Sandal gap, Morgagni diaphragmatic hernia, Redundant skin, P... OMIM:613177
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Vertebral segmentation defect ORPHA:1915
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Missing ribs ORPHA:1759
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v... ORPHA:3099
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Finger syndactyly, Short metacar... ORPHA:1001
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Aplasia of the left hemidiaphragm OMIM:618238
Trisomy 18
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Ventricular septal defect, Postaxi... ORPHA:3380
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Carnitine Deficiency, Systemic Primary
Respiratory distress, Reduced muscle carnitine level, Cardiomyopathy, Dehydration, Hypertrophic c... OMIM:212140
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Death in childhood, Inguinal hernia, Bowing of the lon... OMIM:614437
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Cervical ribs, Transposition of t... ORPHA:2255
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Inguinal hernia, Intervertebral disk degeneration, Abnormal ster... OMIM:619656
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Death in childhood, Dextrocardia, Cardiac total ... OMIM:608978
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Acute infantile spinal muscular atrophy, Respiratory distress, Pectus excavat... OMIM:271225
Osteogenesis Imperfecta, Type X
Genu valgum, Fibular bowing, Death in childhood, Inguinal hernia, Vertebral compression fracture,... OMIM:613848
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Abnormal fibula morphology, Abnormal femur morphology, Inguinal ... ORPHA:2063
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Clinodactyly, Respiratory distress OMIM:300934
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defect, Ventricular septal defect OMIM:616777
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Joint contracture, Respiratory distress OMIM:617977
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Respiratory distress, Ascites, Nonimmune hydrops fetalis, Flexion contracture, Sk... ORPHA:367
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ... ORPHA:280
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal clavicle morphology, Abnormal r... ORPHA:991
Lethal Osteosclerotic Bone Dysplasia
Short neck, Dyspnea, Respiratory distress ORPHA:1832
Acute Myelomonocytic Leukemia
Pallor, Dyspnea ORPHA:517
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Inguinal hernia ORPHA:2409
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Foot polydactyly, Short palm, Bifid thoracic ve... ORPHA:268249
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cor pulmonale, Respiratory distress OMIM:263000
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Ascites, Pectus excavatum, Nonimmune hydrops fetalis, Thoracic hypoplasia, Scoli... OMIM:620369
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal her... ORPHA:1272
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Total... OMIM:208530
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ... OMIM:306955
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Spinal rigidity, Inguinal hernia, Dyspnea, EMG: myopathic abnormalitie... OMIM:620326
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Tricuspid atresia, Partial anomalous pulmonary venous return, ... ORPHA:185
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proxim... OMIM:122470
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion, Dyspnea, Respiratory distress ORPHA:411703
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi... ORPHA:818
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Inguinal hernia, Umbilical hernia, Hip dysplasia... OMIM:618846
X-Linked Sideroblastic Anemia
Pallor, Dyspnea ORPHA:75563
Bardet-Biedl Syndrome 16
Polydactyly, Respiratory distress OMIM:615993
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Pectus carinatum, Pectus excavatum, Arachnodactyly, Slender long bones with narro... ORPHA:536467
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Proximal placement of thumb, Narrow chest, Respiratory distress, Cardiomyopa... OMIM:217980
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In... OMIM:618454
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Tachypnea, Muscular ventricular septal defect, Neonatal death OMIM:620203
Bronchopulmonary Dysplasia
Dyspnea, Central apnea, Right ventricular hypertrophy, Respiratory distress ORPHA:70589
Mogs-Cdg
Hypoventilation, Pulmonary edema, Polyhydramnios, Respiratory distress, Left ventricular hypertro... ORPHA:79330
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Respiratory distress, Thin ribs, Death in infancy, Centrally nucleated skeletal m... OMIM:300219
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Increased variability in mus... OMIM:604377
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Marden-Walker Syndrome
Dextrocardia, Inguinal hernia, Abnormal sternum morphology, Scoliosis, Camptodactyly, Congenital ... OMIM:248700
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia, Patent foramen ovale, Broad thumb, Brachydacty... OMIM:616364
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Dextrocardia, Brachydactyly ORPHA:2863
Pleural Mesothelioma
Pleural effusion, Dyspnea, Abnormal thorax morphology, Respiratory distress ORPHA:50251
X-Linked Centronuclear Myopathy
Polyhydramnios, Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively s... ORPHA:596
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Lethal Congenital Contracture Syndrome 1
Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal OMIM:253310
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
White-Sutton Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Facial hypotonia, Abnormal hear... ORPHA:468678
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Fused thoracic ... OMIM:618469
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Arterial Tortuosity Syndrome
Myocarditis, Rocker bottom foot, Clinodactyly of the 5th finger, Inguinal hernia, Respiratory dis... ORPHA:3342
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Spondyloepiphyseal Dysplasia Congenita
Delayed pubic bone ossification, Platyspondyly, Delayed calcaneal ossification, Respiratory distr... OMIM:183900
Esophageal Atresia
Abnormal vertebral morphology, Polyhydramnios, Respiratory distress, Episodic respiratory distres... ORPHA:1199
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Polyhydramnios, Narrow chest, Flared metaphysis, Short ribs, Hypopla... ORPHA:2347
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Patellar hypoplasia, Dextrocardia, Secundum atrial septal defe... ORPHA:2257
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Respiratory dis... OMIM:617102
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Weakness of fa... ORPHA:254875
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Pectus carinatum, Scoliosis, Hypertrophic cardiomyopathy, Flexion contractu... OMIM:619383
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Pectu... OMIM:312870
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Polyhydramnios, Sandal gap, Respiratory distress, ... OMIM:607143
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy OMIM:614022
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Dyspnea ORPHA:99931
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Death in infancy, Abnormal he... OMIM:613390
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Tarsal synostosis, Fused cer... OMIM:157800
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Inguinal hernia, Clubbing of ... ORPHA:221120
Moebius Syndrome
Radial deviation of finger, Respiratory distress, Facial diplegia, Split hand, Abnormal pelvic gi... OMIM:157900
Constricting Bands, Congenital
Ectopia cordis, Scoliosis, Omphalocele, Hand polydactyly, Abnormal rib cage morphology, Syndactyl... OMIM:217100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Cardiomyopathy, Respiratory distress ORPHA:79312
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Inguinal hernia, Hemivertebrae, Pectus excavatum,... ORPHA:96121
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Respiratory distress OMIM:606763
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Scoliosis, Congenital contracture OMIM:615042
Glycogen Storage Disease Of Heart, Lethal Congenital
Peripheral edema, Pulmonary edema, Respiratory distress, Cardiomyopathy, Ascites, Hypertrophic ca... OMIM:261740
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Dilated cardiomyo... OMIM:614299
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, 11 pairs of ribs, 2-3 toe syndactyly, Hemivertebrae, Postaxial h... OMIM:264480
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Respiratory distress, Petechiae, Ascites, Neonatal death, Apnea, Nonimmu... OMIM:608013
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios OMIM:611812
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Pallor ORPHA:29822
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Patent foramen ovale, Vertebral segmentation de... ORPHA:2745
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Dextrocardia OMIM:618067
Gaucher Disease Type 2
Abnormal pattern of respiration, Flexion contracture, Respiratory distress ORPHA:77260
Cardiac Diverticulum
Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypoplasia of the sternum, Mitral valve... ORPHA:1686
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Pectus carinatum, Clubbing, Pectus excavatum, Hypertrop... OMIM:617303
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Kabuki Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Abnormal form of the vertebral bodies, Abno... ORPHA:2322
Optic Atrophy 1
Pallor OMIM:165500
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly OMIM:258850
Mosaic Trisomy 9
Rocker bottom foot, Finger clinodactyly, Hydrops fetalis, Dextrocardia, Polyhydramnios, Abnormal ... ORPHA:99776
Immunodeficiency 95
Respiratory distress OMIM:619773
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Respiratory distress, Chylothorax,... OMIM:620278
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal ilium morphology, Short distal phalanx ... OMIM:614080
Chromosome 6Q24-Q25 Deletion Syndrome
Sandal gap, Respiratory distress, Dysplastic pulmonary valve, Right ventricular dilatation, Promi... OMIM:612863
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Secundum atrial septal defect, Respiratory distress OMIM:202650
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema, Cerebral edema ORPHA:439218
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Abnormal vertebral morphology, Respirator... ORPHA:210122
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Omphalocele, H... ORPHA:2162
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Scoliosis, Scapular winging, Facial pa... ORPHA:98915
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... OMIM:620076
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Respiratory distress OMIM:606164
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Exertional dyspnea, Clubbing of fingers, Dyspnea, Right atrial enlargeme... ORPHA:99106
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Hyperlordosis, Scapular winging, Pallor OMIM:600462
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis OMIM:276822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Respiratory distress, Patent foramen ovale, Tachypnea, Pericardial effusion... ORPHA:26793
Distal Deletion 15Q
Congenital diaphragmatic hernia, Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Short d... ORPHA:1596
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Narrow chest, Respiratory distress, Redundant skin, Femoral bowing, Tibial bowing, Kyphosis, Neon... OMIM:616482
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:614779
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Triphalangeal thumb, 11 pairs of ribs, Hypoplastic coccygeal vertebrae,... OMIM:105650
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Vertebral clefting OMIM:615709
Fryns Syndrome
Rocker bottom foot, Stillbirth, Polyhydramnios, Proximal placement of thumb, Chylothorax, Thin ri... OMIM:229850
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Respiratory di... ORPHA:226313
Hyperparathyroidism, Transient Neonatal
Polyhydramnios, Inguinal hernia, Respiratory distress, Narrow chest, Thin ribs, Femoral bowing, S... OMIM:618188
Breath-Holding Spells
Pallor OMIM:607578
Bardet-Biedl Syndrome 17
Polydactyly, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial hand polydact... OMIM:615994
Chitayat Syndrome
Polyhydramnios, Respiratory distress, Pectus excavatum, Brachydactyly, Hallux valgus OMIM:617180
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Hypoventilation, Respiratory distress, Apnea, Abnormal heart morphology ORPHA:314655
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Evans Syndrome
Petechiae, Pallor, Dyspnea ORPHA:1959
Retinitis Pigmentosa 51
Polydactyly, Pallor OMIM:613464
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Scoliosis, Tapered finger, 1-2 toe syndactyly, Camptodactyly, Sh... OMIM:301044
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Respiratory distress, Upper limb undergrowth, Camp... OMIM:608799
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
C Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Clinodactyly of the 5th finger, Polyhydramnios, D... ORPHA:1308
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe synd... OMIM:620025
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Dextrocardia, Scoliosis, Foot polydactyly, Hand polydactyly, Apnea... ORPHA:220493
Congenital Enterovirus Infection
Myocarditis, Hydrops fetalis, Polyhydramnios, Respiratory distress, Cardiomyopathy, Pleural effus... ORPHA:292
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Hypoplasia of the musculature, Dyspnea, Bowing of the long bones, Pallor... ORPHA:231226
Succinic Acidemia
Respiratory distress OMIM:600335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Mgat2-Cdg
Hydrops fetalis, Respiratory distress, Scoliosis, Pectus excavatum, Kyphosis, Abnormal heart morp... ORPHA:79329
Iniencephaly
Congenital diaphragmatic hernia, Rocker bottom foot, Polyhydramnios, Hyperlordosis, Arthrogryposi... ORPHA:63259
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia OMIM:618063
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydration ORPHA:2260
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Sacral dimple, Respiratory distress, A... ORPHA:2556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Facial p... OMIM:301022
Catel-Manzke Syndrome
Adducted thumb, Genu valgum, Clinodactyly of the 5th finger, Dextrocardia, Inguinal hernia, Pectu... OMIM:616145
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Respiratory distress, Chylothora... ORPHA:3015
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Ky... OMIM:135900
Short-Rib Thoracic Dysplasia 12
Short ribs, Short long bone, Ascites, Edema, Short finger, Inguinal hernia, Short thorax, Patent ... OMIM:269860
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Pallor, Apnea, Edema, Tachypnea, Dilated cardiomyopathy ORPHA:20
Congenital Myasthenic Syndrome
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, Polyhydramnios, Sudden episod... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Spinal rigidity, Polyhydramnios, Sudden episod... ORPHA:98914
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Genu varum, Coxa val... OMIM:224690
Aortic Arch Interruption
Transposition of the great arteries, Exertional dyspnea, Aortic valve atresia, Respiratory distre... ORPHA:2299
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
8P Inverted Duplication/Deletion Syndrome
Clinodactyly of the 5th finger, Dextrocardia, Scoliosis, Pectus excavatum, Short neck, Long finge... ORPHA:96092
Idiopathic Neonatal Atrial Flutter
Tachypnea, Hydrops fetalis, Respiratory distress ORPHA:45452
Alg9-Cdg
Narrow greater sciatic notch, Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left v... ORPHA:79328
Monosomy 9P
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the vertebral column... ORPHA:261112
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Respiratory distress, Slender finger, Preaxial hand polydactyly, Atr... OMIM:610536
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Exertional dyspnea, Dyspnea ORPHA:99105
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:254913
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Hypoplastic vertebral bodies, Thoracic hypoplasia,... OMIM:215140
Scarf Syndrome
Inguinal hernia, Abnormal form of the vertebral bodies, Pectus carinatum, Diastasis recti, Cutis ... ORPHA:3134
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Aplasia of the epiglottis, Polyhydramnios, Narrow chest, Respirato... OMIM:617088
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Split foot,... OMIM:305600
Malaria
Respiratory distress ORPHA:673
Myopathy, Mitochondrial, And Ataxia
Scoliosis, Distal amyotrophy, Pectus excavatum, Increased variability in muscle fiber diameter, P... OMIM:617675
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia OMIM:615482
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Oligohydramnios, Respiratory distress ORPHA:261304
Microlissencephaly-Micromelia Syndrome
Palpebral edema, Polyhydramnios, 11 pairs of ribs, Respiratory distress, Short neck, Adducted thumb ORPHA:50810
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Marden-Walker Syndrome
Muscular dystrophy, Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia... ORPHA:2461
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Polyhydramnios, Respiratory distress ORPHA:990
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Pallor, Apneic episodes in infancy,... ORPHA:348
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Atrial situs ambiguous, Transposition of the great arteries, Infracardiac t... ORPHA:99125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Barrel-shaped chest, Respiratory distress, Pectus carinatum, Patent foramen oval... ORPHA:505248
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Scoliosis, Facial palsy, Dys... OMIM:211530
Tetrasomy 5P
Redundant neck skin, Clinodactyly of the 5th finger, Short hallux, Respiratory distress, Pectus e... ORPHA:3309
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Dyspnea, Right atrial enlarge... ORPHA:439
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Chylothorax, Genital edema, Scoliosis, Lymphedema, Pleural effusion... OMIM:616843
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Dextrocardia, Ventricular septal defect, Absent... ORPHA:96097
Osteoglophonic Dysplasia
Platyspondyly, Short metatarsal, Inguinal hernia, Respiratory distress, Short metacarpal, Broad m... OMIM:166250
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Myocardial eosinophilic infiltration, Clubbing, Dyspnea, Pleural effusion, ... ORPHA:3260
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Respiratory distress, Flaring of rib cage, Joint swelling, Broad ribs OMIM:612852
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy OMIM:619705
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Overriding aorta, Atrial septal def... OMIM:309801
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Congenital kyphoscoliosis, Dextrocardia, Inguinal hernia, Shoulder dislocation, S... ORPHA:536545
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Triphalangeal thumb, Pallor, Abnormal heart morphology, Absen... ORPHA:124
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Respiratory distress, Scoliosis, Short foot, Postaxial polydactyly, Hip dysplasia,... OMIM:300968
Episodic Ataxia Type 1
Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Respiratory distress ORPHA:37612
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Cardiomyopathy, Dehydration, Apnea, Pallor ORPHA:2131
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Fumarase Deficiency
Perimembranous ventricular septal defect, Polyhydramnios, Ascites, Reduced subcutaneous adipose t... OMIM:606812
Boomerang Dysplasia
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body OMIM:112310
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Pectus excavatum, Postaxial polydactyly, Short ster... OMIM:311900
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:667
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Abnormal form of the vertebral bodies, Pectus carinatum, Di... OMIM:312830
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Tachypnea, Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610978
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Dextrocardia
Situs inversus totalis, Dextrocardia, Abnormal rib morphology, Congenital hip dislocation, Abnorm... ORPHA:1666
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Short 1st metacarpal, Proximal placement of thumb, Clinodactyly ... ORPHA:199
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Death in childhood, Weakness of facial musculature, Respiratory distress, Hyp... OMIM:220110
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Genu valgum, Dextrocardia, Narrow chest, S... ORPHA:289
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cardiomyopathy, Respiratory distress OMIM:251000
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Pectus excavatum, Abnormal heart morphology, Cervical ribs, Short 5th finger,... ORPHA:508488
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Respiratory distress, Cardiomegaly, Short femur, Short tibia OMIM:620306
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Aortic valve stenosis, Umbilical hernia, Edema o... OMIM:601803
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Laryngomalacia
Respiratory distress OMIM:150280
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Polyhydramnios, Leiomyosarcoma, Inguinal herni... ORPHA:116
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Fanconi Anemia, Complementation Group C
Anemic pallor, Anterior wedging of T12, Complete duplication of thumb phalanx, Absent thumb, Flex... OMIM:227645
Sepsis In Premature Infants
Purpura, Petechiae, Dyspnea, Nasal flaring, Edema, Pallor ORPHA:90051
Johanson-Blizzard Syndrome
Death in infancy, Edema, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Marshall-Smith Syndrome
Kyphoscoliosis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Umbilical hernia, Short dis... OMIM:602535
Acute Lung Injury
Edema, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Bacterial Toxic-Shock Syndrome
Scaling skin, Myocarditis, Respiratory distress, Myositis, Ecchymosis, Edema, Cellulitis, Tachypn... ORPHA:36234
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Abnormal heart morphology, Oligohydramnios OMIM:617641
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones OMIM:619793
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... 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
Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Pulmonic sten... OMIM:619657
Beta-Ketothiolase Deficiency
Tachypnea, Pallor, Dehydration, Edema ORPHA:134
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Prader-Willi Syndrome Due To Translocation
Clinodactyly of the 5th finger, Respiratory distress, Patent foramen ovale, Scoliosis, Short foot... ORPHA:177907
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic... OMIM:615415
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia OMIM:615444
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Primary Myelofibrosis
Petechiae, Purpura, Ecchymosis, Pallor ORPHA:824
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Cold Agglutinin Disease
Back pain, Pallor ORPHA:56425
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Q Fever
Myocarditis, Purpura, Respiratory distress, Abnormal heart valve morphology, Pleural effusion, Pe... ORPHA:781
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ... OMIM:620113
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Pleural effusion, Rhabdomyolysis, Tachypnea ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Respiratory distress OMIM:619272
Histiocytoid Cardiomyopathy
Pulmonary edema, Pallor, Cardiomegaly, Tachypnea, Ventricular septal defect ORPHA:137675
Orofaciodigital Syndrome Type 3
Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot po... ORPHA:2752
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Sprengel anomaly, Atrioventricular canal defect, Dextrocardia OMIM:618929
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Dyspnea, Right atrial enlargement, Abnormal mitral valve morphology, Orthopne... ORPHA:99103
Hereditary Spherocytosis
Pallor, Skin ulcer, Restrictive cardiomyopathy ORPHA:822
Fanconi Anemia, Complementation Group E
Anemic pallor, Complete duplication of thumb phalanx, Abnormal heart morphology, Absent thumb, Sh... OMIM:600901
Oculopharyngodistal Myopathy 1
Respiratory distress, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG:... OMIM:164310
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria