Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Sec24b MGI:2139764

Gene Summary

Name:

SEC24 homolog B, COPII coat complex component

Synonyms:

SEC24

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage
abnormal eye morphology	Sec24b^em1(IMPC)Tcp	HET	Early adult
abnormal head shape	Sec24b^em1(IMPC)Tcp	HOM	E15.5
abnormal embryo size	Sec24b^em1(IMPC)Tcp	HOM	E15.5
preweaning lethality, complete penetrance	Sec24b^em1(IMPC)Tcp	HOM	Early adult
enlarged lymph nodes	Sec24b^em1(IMPC)Tcp	HET	Early adult
enlarged spleen	Sec24b^em1(IMPC)Tcp	HET	Early adult
abnormal tail morphology	Sec24b^em1(IMPC)Tcp	HOM	E15.5
exencephaly	Sec24b^em1(IMPC)Tcp	HOM	E15.5

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

101 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

96 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

60 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Gross Pathology and Tissue Collection

Images

9 Images

View images

Human diseases caused by Sec24b 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.

Human diseases associated with Sec24b (0 diseases)
Human diseases predicted to be associated with Sec24b (710 diseases)

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

The table below shows human diseases predicted to be associated to Sec24b by phenotypic similarity.

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia o...	ORPHA:1926
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Genitopalatocardiac Syndrome	Ventricular septal defect, Right aortic arch, Transposition of the great arteries, Low-set ears, ...	OMIM:231060
Acalvaria	Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron...	ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus	OMIM:258320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Omphalocele	Omphalocele	ORPHA:660
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Synophrys	ORPHA:3366
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Abnormal helix morphology, Low-se...	ORPHA:1913
Schisis Association	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly	ORPHA:63862
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Anterior encephalocele, Coloboma, Holoprosencephaly, Low-set ears	OMIM:601357
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu...	OMIM:208530
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Fetal Valproate Spectrum Disorder	Omphalocele, Epicanthus	ORPHA:1906
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition ...	OMIM:313850
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Umbilical hernia, Ptosis	ORPHA:1373
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Caudal Duplication	Omphalocele, Myelomeningocele, Spina bifida	ORPHA:1756
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sensorineural hearing imp...	ORPHA:2143
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger, Blepharophimosis, Intrauterine growth retardation, Downslan...	ORPHA:1707
22Q11.2 Duplication Syndrome	Ventricular septal defect, Anterior creases of earlobe, Hypoplastic left heart, Transposition of ...	ORPHA:1727
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Posteriorly rotated ears, Perimembranous ventricular septal defect, Transposition of the great ar...	OMIM:617877
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly, Intrauterine growth retardation	OMIM:603194
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Carpenter Syndrome 1	Omphalocele, Atrial septal defect, Abnormal pinna morphology, Ventricular septal defect, Patent d...	OMIM:201000
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,...	OMIM:618619
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Low-set...	OMIM:619910
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Miller-Dieker Syndrome	Omphalocele, Epicanthus	ORPHA:531
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal ...	OMIM:314390
Trigonocephaly 1	Upslanted palpebral fissure, Epicanthus, Omphalocele, Synophrys	OMIM:190440
8P23.1 Microdeletion Syndrome	External ear malformation, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic card...	ORPHA:251071
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Pate...	OMIM:619657
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macrotia, Patent foramen ovale, Transposition of the great arteries, Low-set ears	OMIM:616789
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati...	ORPHA:3097
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Ophthalmoplegia, External, And Myopia	Spina bifida, Ptosis	OMIM:311000
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac...	ORPHA:2306
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Gastroschisis	ORPHA:2476
Ververi-Brady Syndrome	Macrotia, Cupped ear, Transposition of the great arteries, Low-set ears	OMIM:617982
Triploidy	Low-set, posteriorly rotated ears, Omphalocele, Hydrocephalus, Meningocele, Holoprosencephaly, In...	ORPHA:3376
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo...	OMIM:618254
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Epicanthus, Telecanthus, Posteriorly rotated ears, Congenital diaphragmatic hernia, ...	OMIM:263210
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Joint contracture of the hand, Spina bifida, Camptodactyly	OMIM:211960
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Inguinal hernia, Ventricular septal de...	OMIM:600001
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Upslanted palpebral fissure, Omphalocele	ORPHA:3035
Iniencephaly	Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Hydrocephalus, Myelome...	ORPHA:63259
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Ventricular septal defect, Tetralogy of Fa...	ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo...	OMIM:253800
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia, Low-set ears	OMIM:601163
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Telecanthus, Diastasis recti, Highly arched eyebrow, He...	OMIM:257920
Isolated Hemihyperplasia	Myelomeningocele, Inguinal hernia	ORPHA:2128
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Epicanthus, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, N...	ORPHA:254528
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Low-set ears	ORPHA:93267
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Isolated Anencephaly	Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral...	OMIM:617992
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sensorineural hearing imp...	OMIM:222448
Constricting Bands, Congenital	Encephalocele, Omphalocele, Eyelid coloboma, Gastroschisis, Bladder exstrophy	OMIM:217100
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Underfolded helix, Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Large...	OMIM:618316
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Large placenta, Umbilical hernia, Diastasis recti	ORPHA:254534
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Upslanted palpebral fissure, Epicanthus, Omphalocele, Telecanthus	OMIM:601927
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1263
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Microtia, Blepharophimosis, S...	OMIM:608149
Trisomy 1Q	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Downslanted...	ORPHA:261344
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Phaver Syndrome	Posteriorly rotated ears, Ventricular septal defect, Conductive hearing impairment, Myelomeningoc...	ORPHA:2876
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Joubert Syndrome 15	Exencephaly	OMIM:614464
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Posteriorly rotated ears, Hydrocephalus, Upslanted palpebral fissure,...	OMIM:264480
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Gastroschisis	Gastroschisis	ORPHA:2368
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Trisomy 18	Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Camptodactyly of finger, Spina bifida...	ORPHA:3380
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co...	OMIM:256520
Alg3-Cdg	Abnormal pinna morphology, Coarctation of the descending aortic arch, Neural tube defect, Cardiom...	ORPHA:79321
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Developmental And Epileptic Encephalopathy 89	Omphalocele, Highly arched eyebrow, Asymmetry of the ears, Sparse eyebrow, Flexion contracture, U...	OMIM:619124
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Microtia, Limbal dermoid	ORPHA:1834
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a...	ORPHA:2255
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Ventricular septal defect, Uplifted earlobe, Pulmonary artery stenosis, Overfold...	OMIM:280000
Microphthalmia, Syndromic 9	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Agenesis of pulmonary vessels, ...	OMIM:601186
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly	ORPHA:1665
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect,...	OMIM:270100
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Chromosome 9P Deletion Syndrome	Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Highly arched eyebrow, Upslan...	OMIM:158170
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Congenital diaphra...	ORPHA:2092
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob...	ORPHA:1104
Short-Rib Thoracic Dysplasia 12	Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Hy...	OMIM:269860
Holoprosencephaly	Congenital diaphragmatic hernia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Iris colob...	ORPHA:2162
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Inferiorly positioned...	OMIM:263650
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Omphalocele, Congenital diaphragmatic...	ORPHA:887
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Meningocele, Facial palsy, Pseudopapilledema	ORPHA:3456
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Teebi Hypertelorism Syndrome 1	Omphalocele, Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Downslanted pa...	OMIM:145420
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	ORPHA:1335
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Camptodactyly of fi...	ORPHA:1327
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia, Abnormality of the ear	OMIM:600776
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia...	ORPHA:99125
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Hearing impairm...	ORPHA:894
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Posteriorly rotated ears, Long eyelashes, Low-set ears, Camptodactyly	OMIM:618529
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Epicanthus, Sensorineural hearing impairment, Protruding ear, Upslanted palpebral fi...	OMIM:609625
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Otopalatodigital Syndrome Type 2	Encephalocele, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Myelomeningocele,...	ORPHA:90652
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Highly arched eyebrow, Congen...	OMIM:618454
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the abdominal ...	OMIM:247200
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Situs inversus total...	ORPHA:1908
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Pulmonary hypoplasia	OMIM:618174
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Popliteal pterygium, Overfolded helix	ORPHA:3329
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis	OMIM:119580
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Manitoba Oculotrichoanal Syndrome	Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos	OMIM:248450
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Hydrocephalus, Holoprosencephaly, ...	ORPHA:2166
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Papilledema, Abnormality of the orbital region, Pterygium, Iris coloboma	ORPHA:371428
Cloacal Exstrophy	Omphalocele, Spina bifida, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Low-set ears	OMIM:617895
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615524
Thanatophoric Dysplasia	Patent ductus arteriosus, Hydrocephalus, Pulmonary hypoplasia, Low-set ears, Atrial septal defect...	ORPHA:2655
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Holoprosencephaly 7	Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Upslant...	OMIM:610828
Recombinant Chromosome 8 Syndrome	Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Pulm...	OMIM:179613
Restrictive Dermopathy	Atrial septal defect, Dextrocardia, Large placenta, Patent ductus arteriosus, Ascending tubular a...	ORPHA:1662
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Pagod Syndrome	Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Meningocele, Optic atr...	ORPHA:991
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Low-set ...	OMIM:220210
Gm1 Gangliosidosis	Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Patent ductus arter...	ORPHA:354
Lethal Congenital Contracture Syndrome 10	Omphalocele, Intrauterine growth retardation, Downslanted palpebral fissures, Low-set ears	OMIM:617022
Humero-Radial Synostosis	Meningocele, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Microtia, Blepharophimosis	ORPHA:254519
C Syndrome	Omphalocele, Epicanthus, Posteriorly rotated ears, Upslanted palpebral fissure, Low-set ears	OMIM:211750
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu...	ORPHA:1330
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctation of aorta, Supravalvar pulmon...	OMIM:618164
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Omphalocele, Sparse eyebrow, Stillbirth, Macrotia	OMIM:616300
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger, Hearing abnormality, Low-set ears, Downslanted palpebral fi...	ORPHA:2021
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, P...	ORPHA:2437
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Lateral Meningocele Syndrome	Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Se...	ORPHA:2789
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Pulmonary hypoplasia, Neonatal death, Low-set ears, Hydranencephaly	OMIM:236500
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Atrial septal defect, Overriding aorta, Patent ductus arteriosus, Macrotia, Protruding ear, Pulmo...	ORPHA:3304
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hearing impairment	OMIM:617577
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis	OMIM:618736
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus	ORPHA:2736
Mosaic Trisomy 1	Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:1692
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Hernia ...	ORPHA:2184
Chime Syndrome	Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog...	ORPHA:3474
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Epicanthus, Posteriorly rotated ears, Diastasis recti, Highly arched eyebrow, Sparse...	OMIM:618419
Ablepharon Macrostomia Syndrome	Omphalocele, Ablepharon, Absent eyebrow, Camptodactyly of finger, Absent eyelashes, Microtia, Atr...	ORPHA:920
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Omphalocele, Downslanted palpebral fissures	OMIM:311300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Low-set ears, Pulmonary...	OMIM:202650
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Acrocephalopolydactylous Dysplasia	Omphalocele, Epicanthus, Abnormal pinna morphology, Upslanted palpebral fissure, Low-set ears	OMIM:200995
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Fibrochondrogenesis 1	Omphalocele, Abnormal pinna morphology, Stillbirth, Low-set ears, Camptodactyly, Joint contractur...	OMIM:228520
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Epicanthus, Posteriorly rotated ears, Facial palsy, Hydrocephalus, Joint contracture...	OMIM:300373
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Joubert Syndrome 14	Encephalocele, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Hydrocephalus, Mening...	OMIM:614424
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Tetrasomy 15Q26	Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, Low-set ears, Atria...	OMIM:614846
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia, Protruding ear	OMIM:617468
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Pulmonary hypoplasia, Hearing impairment	OMIM:616733
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Distal Triplication 15Q	Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, Sensorineural heari...	ORPHA:314588
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Opitz Gbbb Syndrome	Omphalocele, Telecanthus, Inguinal hernia, Posteriorly rotated ears, Hearing impairment, Congenit...	ORPHA:2745
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Epicanthus, Protruding ear, Upslanted palpebral fissure, Holoprosencephaly, Low-set ...	OMIM:618820
Double Outlet Right Ventricle	Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl...	ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Pulmonary hypoplasia	OMIM:619003
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,...	ORPHA:2847
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly,...	OMIM:218350
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing impairment, Muscular ventr...	OMIM:612474
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Chorioretina...	ORPHA:2031
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long eyelashes, Low-set ears, ...	OMIM:616894
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Abnormality of the ear, Interrupted aortic arch, Unil...	OMIM:192430
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia, Conotruncal defect	OMIM:243440
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Hydrocepha...	OMIM:312870
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Holoprosencephaly, Atresia of the external auditory canal, Cyclopia, Abnormality of ...	ORPHA:3186
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Carpenter Syndrome 2	Posteriorly rotated ears, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Sensori...	OMIM:614976
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Highly arched eyebrow, Low-set ears, Abnormal helix morphology, Umbilical hernia, Do...	ORPHA:1519
Marshall-Smith Syndrome	Omphalocele, Optic nerve hypoplasia, Highly arched eyebrow, Hydrocephalus, Synophrys, Overfolded ...	OMIM:602535
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Mosaic Trisomy 16	Abnormal ear morphology, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abn...	ORPHA:1708
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aortic valve sten...	OMIM:615415
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele, Abnormality of the abdomina...	ORPHA:322
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno...	ORPHA:2257
Melnick-Needles Syndrome	Omphalocele, Hearing impairment	ORPHA:2484
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Inguinal hernia, Camptodactyly of finger, Congenital diaphragm...	ORPHA:2311
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Omphalo...	OMIM:200110
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Flat occiput, Exencephaly, Brachycephaly	ORPHA:2211
Isolated Klippel-Feil Syndrome	Abnormal cranial nerve morphology, Spina bifida, Hearing impairment	ORPHA:2345
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Telecanthus, Abnormal eyelash morphology, Downslanted palpebral fissures, Sparse lat...	ORPHA:3164
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Trisomy 20P	Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Camptodactyly of finger, Highly a...	ORPHA:261318
Lateral Meningocele Syndrome	Telecanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, H...	OMIM:130720
Fountain Syndrome	Epicanthus, Spina bifida, Synophrys, Sensorineural hearing impairment, Spina bifida occulta, Thic...	ORPHA:3219
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno...	ORPHA:1110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left hear...	OMIM:617660
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Situs inversus totalis, Holoprosencephaly, Synotia, Narrow int...	ORPHA:990
Meckel Syndrome, Type 1	Omphalocele, Occipital encephalocele, Camptodactyly of finger, Large placenta, Hydrocephalus, Ane...	OMIM:249000
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon...	OMIM:265380
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Posteriorly rotated ears, Highly arched eyebrow, Spina bifida, Hydroceph...	OMIM:613776
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Inguinal hernia, Ventricular septal defect, Mitral atresia, Ascending...	OMIM:619503
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger	ORPHA:1759
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Posteriorly rotated ears, Pulmonary hypoplasia	OMIM:224410
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Intrauterine growth retardation, Enamel hypoplasia	OMIM:243150
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Spina bifida, Congenital sensorineural hearing impai...	OMIM:193500
Codas Syndrome	Omphalocele, Sensorineural hearing impairment, Conductive hearing impairment, Crumpled ear, Ename...	OMIM:600373
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Abnormal pinna morphology, Bicuspid aortic valve, Ventricular septal defect, De...	ORPHA:477817
Fraser Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, External ear malformation, Myelome...	ORPHA:2052
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation	OMIM:611134
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Acropectorovertebral Dysplasia	Camptodactyly of finger, Spina bifida	ORPHA:957
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Hypoplasia of the cochlea, Patent ductus arteriosus after birth...	ORPHA:251061
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia	ORPHA:2241
Focal Dermal Hypoplasia	Omphalocele, Mixed hearing impairment, Inguinal hernia, Diastasis recti, Congenital diaphragmatic...	OMIM:305600
Autosomal Recessive Multiple Pterygium Syndrome	Inguinal hernia, Hearing impairment, Hearing abnormality, Aplasia/Hypoplasia of the abdominal wal...	ORPHA:2990
Fryns Syndrome	Low-set, posteriorly rotated ears, Omphalocele, Aganglionic megacolon, Congenital diaphragmatic h...	ORPHA:2059
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Large fleshy ears, Pleural eff...	OMIM:616897
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Inguinal hernia, Camptodactyly of fin...	ORPHA:373
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Narrow palpebral fissure, Stillbirth, Aplasia of the left hem...	OMIM:229850
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Hydrocephalus, Microtia, Retina...	ORPHA:2839
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplas...	OMIM:611812
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Vacterl With Hydrocephalus	Inguinal hernia, Microtia, third degree, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydro...	ORPHA:3412
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p...	ORPHA:95430
Alg9-Cdg	Low-set, posteriorly rotated ears, Omphalocele, Telecanthus, Lipodystrophy, Large fleshy ears, Lo...	ORPHA:79328
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
De Barsy Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Ventricular septal defect, Patent ductus art...	ORPHA:2962
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Severe sensorineural hearing impairment, Meningocele, Sacral lipoma	ORPHA:2003
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Hydrocephalus, Abnormal heart morphology, Pulmonary hypo...	ORPHA:1865
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Hydrolethalus Syndrome 1	Omphalocele, Abnormal pinna morphology, Anencephaly, Stillbirth, Low-set ears, Severe hydrocephal...	OMIM:236680
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Posteriorly rotated ears, Patent ductus arteriosus, Anencephaly, Pulmonary hypopla...	OMIM:619148
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia	OMIM:241800
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Distal Deletion 10Q	Abnormal morphology of the vestibule of the inner ear, Congenital sensorineural hearing impairmen...	ORPHA:96148
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Epicanthus, Posteriorly rotated ears, Interphalangeal joint contracture of finger, D...	ORPHA:96334
Gorham-Stout Disease	Pleural effusion, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Acrofacial Dysostosis 1, Nager Type	Posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Aqueductal stenosis, ...	OMIM:154400
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Achondrogenesis Type 2	Pulmonary hypoplasia, Hearing impairment	ORPHA:93296
Oeis Complex	Omphalocele, Myelomeningocele, Hydrocephalus, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Secondary Short Bowel Syndrome	Aganglionic megacolon, Gastroschisis, Atherosclerosis	ORPHA:95427
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia, Hypoplastic heart, Low-set ears	OMIM:312150
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Otopalatodigital Syndrome, Type Ii	Omphalocele, Posteriorly rotated ears, Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth...	OMIM:304120
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Absent eyebrow, Inguinal hernia, Abnormal nasolacrimal system morphology, Aganglioni...	ORPHA:2273
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Facial palsy	OMIM:255320
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Hearing impairment, Myelomeningo...	ORPHA:3440
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Microtia, Pulmonary hypoplasia, Holoprosencephaly, Low-set ears	OMIM:612530
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Holoprosencephaly, Low-set ears, Pulmonary hypoplasia, Sin...	OMIM:619879
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:1486
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Conductive hearing...	ORPHA:567
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Posteriorly rotated ears, Optic nerve hypoplasia, Ventricular septal defect, Large earlobe, Low-s...	OMIM:301056
Acromelic Frontonasal Dysplasia	Encephalocele, Telecanthus, Midline central nervous system lipomas, Meningocele, Ptosis	ORPHA:1827
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia, Hypoplastic heart, Low-set ears	OMIM:253290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal helix morphology, Congenital diaphragmatic hernia, Spina bifida	ORPHA:1120
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Tetrasomy 5P	Recurrent respiratory infections, Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of ...	ORPHA:3309
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction velocity, Aortic roo...	OMIM:616652
Marden-Walker Syndrome	Inguinal hernia, Pulmonary hypoplasia, Dextrocardia, Low-set ears	OMIM:248700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Macrotia, Coarctati...	OMIM:600460
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P...	ORPHA:2260
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s...	OMIM:618280
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Sensorineural hearing impairm...	ORPHA:2326
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Neu-Laxova Syndrome 2	Low-set ears, Ablepharon, Spina bifida, Intrauterine growth retardation	OMIM:616038
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Melnick-Needles Syndrome	Recurrent otitis media, Macrotia, Stillbirth, Omphalocele	OMIM:309350
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Intrauterine growth retardation	ORPHA:436252
Cerebrocostomandibular Syndrome	Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresia of the extern...	ORPHA:1393
Tetraamelia Syndrome 1	Hydrocephalus, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Gastroschisis, Low-set ...	OMIM:273395
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia, Abnormal heart morphology	OMIM:300978
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
C Syndrome	Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Congenital diaphragmatic hernia, Apla...	ORPHA:1308
Esophageal Atresia	Omphalocele, Coloboma, Abnormality of the ear, Hearing impairment	ORPHA:1199
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Beckwith-Wiedemann Syndrome	Omphalocele, Otosclerosis, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Lar...	ORPHA:116
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Low-set ears, Atrial septal defect, Occipital m...	OMIM:616546
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Patent ductu...	ORPHA:818
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hearing impairment, Alo...	OMIM:301043
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Charge Syndrome	Omphalocele, Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, ...	OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Inguinal hernia, Aganglionic megacolon, Hearing impairment, Absent e...	OMIM:308205
Cardiac Valvular Dysplasia 1	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus...	OMIM:212093
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa...	OMIM:616866
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Aortopulmo...	OMIM:620025
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Atelosteogenesis, Type Ii	Stillbirth, Pulmonary hypoplasia	OMIM:256050
Neurocutaneous Melanocytosis	Meningocele, Chorioretinal coloboma	ORPHA:2481
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma	OMIM:600145
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Severe Congenital Nemaline Myopathy	Facial diplegia, Pulmonary hypoplasia, Facial palsy, Low-set ears	ORPHA:171430
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Diastasis recti, Spina bifida, Conge...	ORPHA:2369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Posteriorly rotated ears, Patent ductus arteriosus, Cupped ear, Large fleshy ears, Pulmonary hypo...	OMIM:614080
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Low-set ears	OMIM:191830
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Pulmonary hypoplasia, Neonatal death, Low-set ears	OMIM:251230
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Atrial septal defect, Posteriorly rotated ears, Optic nerve hypoplasia, Ventricular septal defect...	OMIM:617506
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus	OMIM:182210
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn...	ORPHA:261311
Serkal Syndrome	Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Okamoto Syndrome	Omphalocele, Abnormal helix morphology, Low-set ears, Long palpebral fissure, Macrotia, Ptosis	ORPHA:2729
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Amish Lethal Microcephaly	Optic atrophy, Spina bifida	ORPHA:99742
Down Syndrome	Atrial septal defect, Aganglionic megacolon, Ventricular septal defect, Atrioventricular canal de...	OMIM:190685
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abnormal eyela...	ORPHA:2671
Tarp Syndrome	Low-set, posteriorly rotated ears, Optic atrophy, Prominent antihelix, Abnormal antihelix morphol...	ORPHA:2886
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Thoracic aortic aneurysm, Posteriorly rotated ears, Repeated pneumothor...	ORPHA:536467
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Cutis Laxa, Autosomal Recessive, Type Ic	Inguinal hernia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umb...	OMIM:613177
Necrotizing Enterocolitis	Gastroschisis, Abnormal heart morphology	ORPHA:391673
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Atrial septal defect, Hydrocephalus, Double outlet right ventricle	OMIM:614886
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Patent ductus arteriosus, Sensorineural hearing impairment, Pulmonary h...	OMIM:619351
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Unilateral deafness, Meningocele, Flexion contr...	ORPHA:1010
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Low-set ears	ORPHA:85166
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia	OMIM:612284
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:214100
Lathosterolosis	Ptosis, Epicanthus, Meningocele, Intrauterine growth retardation, Downslanted palpebral fissures,...	ORPHA:46059
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter...	ORPHA:163956
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Microtia, Pulmonary hypoplasia, Low-set ears, Neonatal death	OMIM:608013
Diaphanospondylodysostosis	Inguinal hernia, Pulmonary hypoplasia, Low-set ears	OMIM:608022
Schinzel-Giedion Syndrome	Abnormality of the stapes, Inguinal hernia, Aganglionic megacolon, Recurrent pneumonia, Abnormal ...	ORPHA:798
Fetal Akinesia Deformation Sequence	Posteriorly rotated ears, Pulmonary hypoplasia	ORPHA:994
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Ectropion, Inguinal hernia, Spina bifida, Aplasia/...	ORPHA:2308
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn...	OMIM:611584
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo...	ORPHA:141127
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia, Low-set ears	OMIM:151210
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Abnormal pinna morphology, Pulmonary hypoplasia	OMIM:231680
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hearing impairment, Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Umbilic...	OMIM:308050
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia, Low-set ears	ORPHA:2470
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Abnormal pinna morphology, Complete atrioventricular canal defect, Microtia, Pulmonary hypoplasia...	OMIM:617925
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Holoprosencephaly	ORPHA:250999
You-Hoover-Fong Syndrome	Coarctation of aorta, Hearing impairment, Double aortic arch, Vascular ring	OMIM:616954
Genitopatellar Syndrome	Atrial septal defect, Pulmonary hypoplasia, Low-set ears, Hearing impairment	ORPHA:85201
Raine Syndrome	Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Pro...	OMIM:259775
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Posteriorly rotated ears, Bicuspid aortic valv...	OMIM:612289
Lumbar Syndrome	Myelomeningocele, Bladder exstrophy, Spina bifida	ORPHA:83628
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Low-set ears, Sirenomelia	ORPHA:1848
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Megalopa...	OMIM:615636
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Beckwith-Wiedemann Syndrome	Omphalocele, Posterior helix pit, Diastasis recti	OMIM:130650
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
8Q24.3 Microdeletion Syndrome	Branchial cyst, Inguinal hernia, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of t...	ORPHA:508488
Nephronophthisis 2	Situs inversus totalis, Pulmonary hypoplasia	OMIM:602088
Charge Syndrome	Aortic arch aneurysm, Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, Aquedu...	ORPHA:138
Pallister-Killian Syndrome	Omphalocele, Telecanthus, Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Hearing impairm...	OMIM:601803
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Occipital encephalocele, Epicanthus, Meningocele, Abnormal opt...	ORPHA:397715
Mosaic Trisomy 9	Camptodactyly of finger, Spina bifida, Upslanted palpebral fissure, Low-set ears, Intrauterine gr...	ORPHA:99776
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Cupped ear, Double outlet right ventricle, Low-set ears, Pulmonic steno...	OMIM:618223
Fraser Syndrome 1	Encephalocele, Abnormal pinna morphology, Myelomeningocele, Hydrocephalus, Cupped ear, Abnormal h...	OMIM:219000
Achondroplasia	Conductive hearing impairment, Hydrocephalus, Recurrent otitis media, Pulmonary hypoplasia	OMIM:100800
Ogden Syndrome	Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricula...	OMIM:300855
Hallermann-Streiff Syndrome	Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Low-...	OMIM:234100
Nail-Patella Syndrome	Sensorineural hearing impairment, Antecubital pterygium, Spina bifida, Ptosis	OMIM:161200
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens...	OMIM:164210
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Prominent scalp veins, Inguinal hernia, Abnormal heart valve m...	ORPHA:536471
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Curry-Jones Syndrome	Blepharophimosis, Occipital meningocele, Lipomyelomeningocele, Iris coloboma	OMIM:601707
Microphthalmia, Syndromic 2	Posteriorly rotated ears, Ventricular septal defect, Asymmetry of the ears, Dextrocardia, Antever...	OMIM:300166
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Congenital sensorineur...	OMIM:157800
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Digeorge Syndrome	Inguinal hernia, Ventricular septal defect, Femoral hernia, Atelectasis, Patent ductus arteriosus...	OMIM:188400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Epicanthus, Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial palsy, Low-set ...	OMIM:619480
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Cardiomegaly	OMIM:620306
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Inguinal hernia, Pulmonary hypoplasia, Low-set ears, Co...	OMIM:265000
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Sensorineural hearing impairment, Multiple muscular...	ORPHA:391641
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Facial palsy, Spina bifida, Optic nerve hypoplasia, Almond-shaped palpebral fi...	ORPHA:508498
Atelosteogenesis Type I	Pulmonary hypoplasia, Low-set ears	ORPHA:1190
Meier-Gorlin Syndrome 7	Ventricular septal defect, Complete atrioventricular canal defect, Sensorineural hearing impairme...	OMIM:617063
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Fanconi Anemia	Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpeb...	ORPHA:84
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia, Low-set ears	OMIM:200600
Osteogenesis Imperfecta	Abnormal endocardium morphology, Mixed hearing impairment, Inguinal hernia, Cerebral hemorrhage, ...	ORPHA:666
Hypoglossia-Hypodactyly Syndrome	Gastroschisis, Abnormal cranial nerve morphology	ORPHA:989
Restrictive Dermopathy 1	Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Low-set ears, Neon...	OMIM:275210
Phakomatosis Pigmentokeratotica	Coloboma, Spina bifida	ORPHA:2874
Aicardi Syndrome	Spina bifida, Hiatus hernia, Optic disc coloboma, Optic atrophy, Lipoma, Sparse lateral eyebrow	OMIM:304050
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Low-set ears, Coarctation of aorta	ORPHA:50945
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia, Low-set ears	OMIM:618975
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Glue ear, Pericarditis, Dextrocardia, Hydrocephalus, Abnorm...	ORPHA:3310
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Protruding ear, Mitral valve prolapse, ...	OMIM:249420
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Aganglionic megacolon, Posteriorly rotated ears, Ventricular septal defect,...	OMIM:270400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia	ORPHA:457284
Orofaciodigital Syndrome Vi	Epicanthus, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Occipital meni...	OMIM:277170
Greenberg Dysplasia	Large placenta, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal ...	OMIM:215140
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Hydrocephalus, Stillbirth, Short umbilical cord, Low-set ears, Small pl...	OMIM:208150
Stuve-Wiedemann Syndrome 1	Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy, Abnormal autonomic nervous system ph...	OMIM:601559
Knobloch Syndrome 1	Occipital encephalocele, Epicanthus, Telecanthus, Optic disc pallor, Peripapillary atrophy, Horiz...	OMIM:267750
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Optic atrophy, Bronchiectasis	OMIM:619708
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Spina bifida, Highly arched eyebrow, Hearing impairment, Simple ear, F...	OMIM:180849
Congenital Myopathy 22B, Severe Fetal	Pleural effusion, Pulmonary hypoplasia, Low-set ears	OMIM:620369
Basal Cell Nevus Syndrome 1	Hydrocephalus, Orbital cyst, Iris coloboma, Spina bifida	OMIM:109400
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Spina bifida, Hearing impairment, Hydrocephalus, Optic atrophy, Protruding ear, Upsla...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Spina bifida, Hearing impairment, Hydrocephalus, Optic atrophy, Protruding ear, Upsla...	ORPHA:363958
Fibular Hemimelia	Thoracoabdominal wall defect, Spina bifida	ORPHA:93323
Campomelic Dysplasia	Epicanthus, Spina bifida, Conductive hearing impairment, Hydrocephalus, Contracture of the distal...	OMIM:114290
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia, Short umbilical cord, Low-set ears	OMIM:616503
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus	ORPHA:93271
Semilobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A...	ORPHA:93924
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Penile Agenesis	Ventricular septal defect, Posteriorly rotated ears, Cloacal abnormality, Bilateral lung agenesis...	ORPHA:49
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Protruding ear, ...	OMIM:619534
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Low-set ears	ORPHA:56304
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Phocomelia, Schinzel Type	Intrauterine growth retardation, Meningocele, Protruding ear	ORPHA:2879
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Microtia, third degree, Posteriorly rotated ears, Abnormality o...	ORPHA:2753
Arima Syndrome	Occipital meningocele, Optic atrophy, Chorioretinal coloboma, Ptosis	OMIM:243910
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules	OMIM:162200
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Dpagt1-Cdg	Optic atrophy, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia, Diffuse optic ...	ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Perimembranous ventricular septal defect, Pulmonary hypoplasia, Low-set ears	ORPHA:83617
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry	OMIM:163200
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Acrorenal-Mandibular Syndrome	Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears	OMIM:200980
Marfan Syndrome	Inguinal hernia, Meningocele, Downslanted palpebral fissures	ORPHA:558
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma	ORPHA:573278
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Doors Syndrome	Optic atrophy, Sirenomelia, Atresia of the external auditory canal, Low-set ears, Aspiration pneu...	ORPHA:79500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia	OMIM:263520
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Pulmonary hypoplasia	OMIM:271520
Thrombocytopenia-Absent Radius Syndrome	Spina bifida, Ptosis	OMIM:274000
Norrie Disease	Venous insufficiency, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal c...	ORPHA:649
Duplication Of Urethra	Gastroschisis	ORPHA:237
Autosomal Recessive Polycystic Kidney Disease	Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia, Low-set ears	ORPHA:731
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:208500
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Pulmonary hypoplasia	OMIM:236700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Epicanthus, Abnormal pinna morphology, Elbow flexion contracture, Long ear, Low-set ears, Occipit...	OMIM:276820
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Hearing impairment	OMIM:606170
Ulbright-Hodes Syndrome	Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears	ORPHA:3404
Microphthalmia, Syndromic 1	Abnormal pinna morphology, Aganglionic megacolon, Bicuspid aortic valve, Optic disc coloboma, Pul...	OMIM:309800
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Hydrocephalus, Cranial asymmetry, Severe intrauterine growth retardation, Intrau...	ORPHA:3455

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 Sec24b

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 Sec24b.

No publications found that use IMPC mice or data for Sec24b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sec24b^em1(IMPC)Tcp	Exon Deletion	Mice
Sec24b^{tm119299(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sec24b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Sec24b^{tm119299(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Sec24b MGI:2139764

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Eye Morphology

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Pathology and Tissue Collection

Human diseases caused by Sec24b mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data