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Gene: Nodal MGI:97359

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Gene Summary

Name:
nodal
Synonyms:
Tg.413d

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 System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.39×10-05
increased circulating triglyceride level Nodaltm1b(EUCOMM)Wtsi HET Early adult 9.36×10-07
preweaning lethality, complete penetrance Nodaltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased large unstained cell number Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.18×10-05
corneal vascularization Nodaltm1b(EUCOMM)Wtsi HET   Early adult 1.15×10-05
increased circulating HDL cholesterol level Nodaltm1b(EUCOMM)Wtsi HET Early adult 8.41×10-07
embryonic lethality prior to tooth bud stage Nodaltm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased grip strength Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.09×10-08
increased circulating cholesterol level Nodaltm1b(EUCOMM)Wtsi HET Early adult 3.58×10-05
abnormal startle reflex Nodaltm1Rob HET   Early adult 8.58×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nodal 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Asplenia, Atrioventricular canal de... OMIM:605376
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Hepatic Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy... OMIM:614025
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Acalvaria
Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly ORPHA:945
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... ORPHA:244
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cleft palate, Spinal dysra... ORPHA:1926
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... OMIM:314390
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Triploidy
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Meningocele, Ab... ORPHA:3376
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Conjunc... OMIM:603552
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Distal Deletion 13Q
Encephalocele, Anencephaly, Abnormal cardiac septum morphology, Holoprosencephaly, Anal atresia ORPHA:1590
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficu... OMIM:610717
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Glycogen Storage Disease Ixa1
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia OMIM:615924
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,... OMIM:617388
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... OMIM:615415
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... ORPHA:3426
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Holopros... ORPHA:93274
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, High palate, H... OMIM:609637
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs ORPHA:2570
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessel... OMIM:601186
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hartsfield Syndrome
Encephalocele, Cleft palate, Lobar holoprosencephaly ORPHA:2117
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia ORPHA:71529
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells OMIM:620282
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia ORPHA:89844
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... OMIM:278730
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... OMIM:300635
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis... OMIM:269860
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tric... ORPHA:1759
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, High palate, Transposit... OMIM:201000
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... OMIM:600001
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... ORPHA:650
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar... OMIM:313850
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Monosomy 13Q34
Common atrium, Hepatic steatosis, Pulmonic stenosis ORPHA:96168
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... OMIM:253800
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Ventricular septal defect, Mitral valve prolapse OMIM:616202
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... OMIM:613490
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Bifid uvula OMIM:601374
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia OMIM:613877
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... ORPHA:2255
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hypertriglyceridemia ORPHA:280356
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Cleft palate, Abnor... ORPHA:2166
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Holoprosencephaly 11
Polysplenia, Holoprosencephaly, Cleft palate OMIM:614226
Ring Chromosome 21 Syndrome
Holoprosencephaly, Abnormal heart morphology ORPHA:1445
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Galactokinase Deficiency
Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma, Nuclear cataract, Hypergal... ORPHA:79237
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Holoprosencephaly
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:2162
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Portal hyp... OMIM:278000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... OMIM:158310
Meckel Syndrome 14
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Holoprosencephaly,... OMIM:619879
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Distal Monosomy 7Q36
Holoprosencephaly, Cleft palate ORPHA:1636
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,... OMIM:202650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Trisomy 18
Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa... ORPHA:3380
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hypertriglyceridemia OMIM:608600
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Cog4-Cdg
Hypercholesterolemia, Ataxia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98855
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Mirage Syndrome
Patent ductus arteriosus, Esophageal stricture, Anemia, Leukopenia, Intracranial hemorrhage, Gast... OMIM:617053
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hypertriglyceridemia, Ataxia, Gait ataxia ORPHA:363400
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Halperin-Birk Syndrome
Pseudobulbar paralysis, Perimembranous ventricular septal defect, High palate, Gastroesophageal r... OMIM:618651
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Lipodystrophy, Familial Partial, Type 5
Hypertension, Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98853
Gracile Bone Dysplasia
Asplenia, Death in infancy, Hypoplastic spleen, Ankyloglossia OMIM:602361
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia, Iris hypopigmentation ORPHA:79476
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomal... ORPHA:1120
Chromosome 3Q13.31 Deletion Syndrome
High palate, Alobar holoprosencephaly OMIM:615433
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Stormorken Syndrome
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, Hypoplastic ... OMIM:185070
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes... ORPHA:77298
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin... ORPHA:98863
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... ORPHA:412
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... ORPHA:290
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... ORPHA:1780
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Monosomy 18P
Holoprosencephaly, Cleft palate ORPHA:1598
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Splenomegaly, Decreased LDL cholesterol concentration, Corneal scarring, Athet... ORPHA:404454
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia OMIM:619013
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Cleft palate, High palate, Pulmonary hypoplasia, Holoprosencephaly OMIM:612530
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Renpenning Syndrome
Heterotaxy ORPHA:3242
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Shor... OMIM:256520
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... OMIM:603553
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab... ORPHA:2479
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate ORPHA:250999
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia ORPHA:77296
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Reni Syndrome
Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Kid Syndrome
Recurrent cutaneous abscess formation, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Co... ORPHA:477
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... ORPHA:564
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... OMIM:615947
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... OMIM:610828
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia OMIM:604367
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Holoprosencephaly ORPHA:990
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage ORPHA:2356
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... OMIM:606003
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus... ORPHA:90041
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio... ORPHA:66628
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Chylomicron Retention Disease
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis ORPHA:71
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy... ORPHA:528
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Cardiomy... ORPHA:699
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia ORPHA:2863
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Microform Holoprosencephaly
Tetralogy of Fallot, Holoprosencephaly, Cleft palate, Duodenal atresia ORPHA:280200
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio... ORPHA:179494
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, ... OMIM:614701
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal defect, An... OMIM:620184
Neuhauser Syndrome
Iridodonesis, Ataxia, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea OMIM:249310
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Ataxia, Abnormal granulocyte morphology, Cardiomyopathy, Abnormal circulati... ORPHA:98907
Laron Syndrome
Hypercholesterolemia ORPHA:633
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Abnormal cerebral vascular morphology ORPHA:2165
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cleft palate, Anteri... OMIM:146510
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalo... ORPHA:280195
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Parachute mitral va... OMIM:618316
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
49,Xxxxy Syndrome
Recurrent respiratory infections, Gastroesophageal reflux, Holoprosencephaly, Cleft palate ORPHA:96264
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase OMIM:604484
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h... OMIM:175780
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Smith-Magenis Syndrome
Microcornea, Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance ORPHA:819
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... ORPHA:90308
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Abnormal aortic... ORPHA:1052
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Molar tooth s... OMIM:614815
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:614034
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... OMIM:619123
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... OMIM:615355
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Holoprosencephaly, Atrial septa... ORPHA:261236
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hol... OMIM:147791
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j... OMIM:613870
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly,... OMIM:270400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Hypertension, Hyperuricemia, Hypert... ORPHA:79083
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... ORPHA:167
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia OMIM:613027
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, High palate, Holoprosencephaly, Umbilical hernia, Patent foramen ovale OMIM:613884
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Telangiectasia of the skin OMIM:615381
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furrow, H... OMIM:312870
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia OMIM:617591
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Congestive heart failure ORPHA:2348
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Lessel-Kreienkamp Syndrome