Gene Summary

Name:
nodal
Synonyms:
Tg.413d

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal startle reflex Nodaltm1Rob HET   Early adult 8.58×10-05
hypoactivity Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.39×10-05
increased grip strength Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.21×10-08
increased circulating cholesterol level Nodaltm1b(EUCOMM)Wtsi HET Early adult 3.59×10-05
decreased blood urea nitrogen level Nodaltm1Rob HET Early adult 2.29×10-10
preweaning lethality, complete penetrance Nodaltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating triglyceride level Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.10×10-06
increased large unstained cell number Nodaltm1b(EUCOMM)Wtsi HET Early adult 1.01×10-05
embryonic lethality prior to tooth bud stage Nodaltm1b(EUCOMM)Wtsi HOM   E12.5 0.00
increased circulating HDL cholesterol level Nodaltm1b(EUCOMM)Wtsi HET Early adult 6.44×10-07
corneal vascularization Nodaltm1b(EUCOMM)Wtsi HET   Early adult 5.39×10-06

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Adult LacZ

LacZ Images Wholemount

1 Images

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
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Fish-Eye Disease
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Opacification of the corneal stro... OMIM:136120
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentr... OMIM:616516
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Hepatic Lipase Deficiency
Hypercholesterolemia, Increased HDL cholesterol concentration, Angina pectoris, Hypertriglyceride... OMIM:614025
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of... OMIM:612474
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart... OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Acalvaria
Spina bifida, Holoprosencephaly, Cleft palate, Hydrocephalus, Abnormal lung lobation ORPHA:945
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Splenomegaly, Decreased HDL... OMIM:607616
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Abnormality of the panc... ORPHA:1926
White Forelock With Malformations
Atrial septal defect, Bronchomalacia OMIM:277740
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Tracheoesophageal fistula, Transposition of the great a... OMIM:314390
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Transposition o... ORPHA:1913
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Triploidy
Macroglossia, Holoprosencephaly, Intestinal malrotation, Meningocele, Hepatomegaly, Abnormality o... ORPHA:3376
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomega... OMIM:615415
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:603776
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Developmental cataract, Gait ataxia, Orthostatic hypotension, Hypertriglyce... OMIM:606721
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Difficulty walking, Car... OMIM:610717
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension OMIM:613877
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Punctate keratitis, Keratoconjunctivitis sicca, Hypereosinophilia, E... OMIM:617388
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Hypercholesterolemia, Familial, 2
Corneal arcus, Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Neonatal death, Bilateral lung agenesis, Coarctation ... OMIM:601612
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, Spina bifida occulta, Hi... OMIM:617877
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations ORPHA:488650
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Abnormality... ORPHA:1727
Lcat Deficiency
Hemolytic anemia, Corneal opacity, Hypertension, Hypertriglyceridemia, Splenomegaly ORPHA:650
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Congenital Pulmonary Valvar Stenosis
Atrial septal defect, Laryngeal stenosis ORPHA:3189
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge OMIM:616789
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Prominent nasal bridge, Common atrium, Prominent nose ORPHA:96168
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension ORPHA:71529
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Dysphagia, Wide nasal bridge, Patent foramen ovale, Hypoplastic spleen, Wid... ORPHA:89844
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Microglossia, Asplenia, High palate OMIM:612776
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:300635
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularizati... OMIM:278730
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Meningoc... ORPHA:1759
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Umbilical... OMIM:201000
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Portal hypertension, Steato... OMIM:278000
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormality of the pharynx, Ventricular septal defect ORPHA:3469
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Aprosencephaly, Absent mesencephalon OMIM:601374
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Decreased HDL... OMIM:618620
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Distal Monosomy 13Q
Holoprosencephaly, Abnormal cardiac septum morphology, Anal atresia, Anencephaly ORPHA:1590
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation... ORPHA:101028
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, Transposition of the great arteries, Prominent nose OMIM:617982
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Cleft palate, Anteverted nares, Depressed nasal bridge OMIM:612530
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Agnathia-Otocephaly Complex
Situs inversus totalis, Aglossia, Laryngeal hypoplasia, Holoprosencephaly, Tracheomalacia, Hypopl... OMIM:202650
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Camptodactyly OMIM:613458
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... OMIM:616037
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertension, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Pulmonic stenosis, Hypertrophic cardiomyopathy, Depressed nas... OMIM:618499
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Thanatophoric Dysplasia Type 2
Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... ORPHA:93274
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia OMIM:177000
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hypertension ORPHA:280356
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine-responsive mega... OMIM:249270
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Holoprosencephaly, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Hydranencephaly ORPHA:2570
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Distal Monosomy 7Q36
Holoprosencephaly, Bulbous nose, Cleft palate ORPHA:1636
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Holoprosencephaly
Median cleft lip and palate, Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Abn... ORPHA:2162
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunct... OMIM:158310
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts, Anteverted nares OMIM:263630
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy, Bulbous nose, Wide nasal bridge ORPHA:93946
Trisomy 18
Spina bifida, Atrial septal defect, Narrow palate, Short nose, Ventricular septal defect, Holopro... ORPHA:3380
Ring Chromosome 21 Syndrome
Holoprosencephaly, Abnormal heart morphology ORPHA:1445
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy OMIM:307030
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Hepatic cysts, Abnor... ORPHA:1505
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge OMIM:601450
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Pulmonary fibrosis, Secundum atrial... OMIM:611926
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension OMIM:608600
Shashi-Pena Syndrome
Atrial septal defect, Broad nasal tip OMIM:617190
Cardiac-Urogenital Syndrome
Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defect, Dysplastic t... OMIM:618280
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Nuclear catarac... ORPHA:79237
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... ORPHA:1780
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... ORPHA:90065
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Faciocardiomelic Syndrome
Anteverted nares, Common atrium, Depressed nasal bridge OMIM:612731
Holoprosencephaly 11
Holoprosencephaly, Polysplenia, Cleft palate OMIM:614226
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thrombocytopenia, Jaun... ORPHA:290
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct... OMIM:618845
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:615812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Gait disturbance, Toe walking, Ventricular e... ORPHA:98855
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Patent duc... OMIM:610338
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Cleft palate, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous... OMIM:613870
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Patent ductus... OMIM:606003
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Duodenal atresia, Anal atresia, ... ORPHA:63259
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Bilateral cleft lip and palate, Ventricular septal defect OMIM:601357
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Bronchogenic Cyst
Abnormal sputum, Abnormal stomach morphology, Abnormal pleura morphology, Dysphagia, Abnormality ... ORPHA:2357
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hepatic steatosis, Cholestasis, Pulmonic stenosis, Coarctation of aorta, Po... OMIM:614300
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Intestinal malrotation, Umbilical hernia, Anal atresia, Cleft palate, Abnormal... ORPHA:2166
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Monosomy 18P
Holoprosencephaly, Cleft palate, Wide nasal bridge ORPHA:1598
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Patent ductus arterios... OMIM:256520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Gait disturbance, Toe walking, Ventricular e... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Supraventricular arrhythmia, Gait disturbance, Toe walking, Ventricular e... ORPHA:98853
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Prominent nasal bridge... OMIM:618974
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Gastroesophageal reflux, Umbilical hernia, P... OMIM:618651
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Pulmonary e... ORPHA:567548
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity OMIM:182290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia, Ataxia OMIM:617575
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Esophageal... ORPHA:77298
8Q12 Microduplication Syndrome
Atrial septal defect, Wide nasal bridge, Ventricular septal defect ORPHA:228399
Hartsfield Syndrome
Cleft palate, Lobar holoprosencephaly, Depressed nasal bridge ORPHA:2117
Mirage Syndrome
Lymphopenia, Gastroesophageal reflux, Patent ductus arteriosus, Achalasia, Esophageal stricture, ... OMIM:617053
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Periportal fibrosis, I... OMIM:269860
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Gait disturbance, Toe walking, Ventricular escape rhythm, Sudden car... ORPHA:98863
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Prominent nose OMIM:221950
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Cornea... ORPHA:404454
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia, High palate ORPHA:2863
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Griscelli Syndrome Type 1
Iris hypopigmentation, Hyperlipidemia, Ataxia ORPHA:79476
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Holoprosencephaly, Submucous cleft hard palate, Cleft palate, Pulmonar... ORPHA:250999
Chromosome 3Q13.31 Deletion Syndrome
High palate, High, narrow palate, Alobar holoprosencephaly OMIM:615433
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Renpenning Syndrome
Prominent nose, Heterotaxy ORPHA:3242
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypertriglyceridemia, Decreased HDL cholester... ORPHA:412
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Microcytic anemia OMIM:619013
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Microform Holoprosencephaly
Short nose, Holoprosencephaly, Choanal atresia, Duodenal atresia, Cleft palate, Tetralogy of Fall... ORPHA:280200
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly, Ataxia ORPHA:263501
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Cholestasis, Pulmonic stenosis, Chole... OMIM:610205
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Hypoplasia of the iris, Iridodonesis, Megalocornea, Abnormal anteri... ORPHA:2479
Lymphatic Malformation 7
Atrial septal defect, Pericardial effusion, Pulmonary edema, Anemia, Varicose veins OMIM:617300
Joubert Syndrome 18
Molar tooth sign on MRI, Ventricular septal defect OMIM:614815
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Patent ductus arteriosus, N... OMIM:612541
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Patent ductus a... OMIM:616867
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia involving the nose, Microglossia, Situs inversus totalis ORPHA:990
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Hypertension, Decreased HDL cholesterol concentration OMIM:604367
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal heart morphology, Abnormal midbrain morphology, Hypoplasi... ORPHA:356961
Vater/Vacterl Association
Spina bifida, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Esopha... OMIM:192350
Megalencephaly
Atrial septal defect, Wide nasal bridge ORPHA:2477
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Bifid epiglottis, Short nose, Ventricular septal defect, Holo... OMIM:146510
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Low pulse pressure, Increased alpha-globu... ORPHA:86816
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Ischemic stroke, Hemolytic anemia, Polycoria, Corneal opacity, Hypoplasia... OMIM:175780
Mental Retardation, Autosomal Recessive 65
Atrial septal defect, Prominent nasal bridge, Bulbous nose OMIM:618109
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly OMIM:610680
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Dextrocardia, Situs inversus totalis OMIM:613095
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Burn-Mckeown Syndrome
Atrial septal defect, Underdeveloped nasal alae, Hypomimic face, Ventricular septal defect, Choan... OMIM:608572
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Wide nasal bridge, Acute lymphob... OMIM:280000
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Macroglossia, Short nose, Ventricular septal defect, Polysplenia, Intestinal... OMIM:312870
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level, Congestive heart failure, ... ORPHA:528
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Lobulated tongue OMIM:617127
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Hypertrophic cardiomyopathy OMIM:617757
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Atrial septal defect, Ventricular septal defect ORPHA:49827
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge, Wide nose ORPHA:521308
16P13.11 Microdeletion Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Holoprosencephaly, Gastroesophageal ... ORPHA:261236
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia, Dilated cardiomyopathy, Aortic regurgitation ORPHA:401923
49,Xxxxy Syndrome
Holoprosencephaly, Arrhinencephaly, Gastroesophageal reflux, Cleft palate, Recurrent respiratory ... ORPHA:96264
Klippel-Trénaunay Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Microcytic anemia, Patent ductus arter... ORPHA:90308
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Arthrogryposis multiplex congenita, Abnormal heart morphology, Joint contra... ORPHA:352490
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosi... OMIM:615382
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve... OMIM:248950
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Cardiomyopathy, Thromboc... ORPHA:699
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Jacobsen Syndrome
Atrial septal defect, Short nose, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Py... OMIM:147791
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wide nasal bridge, Depressed nasal bridge ORPHA:261295
Laron Syndrome
Hypercholesterolemia ORPHA:633
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Right ventricular hypertrophy, Paten... OMIM:614261
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus arteriosus, Pulm... OMIM:615355
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia, Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Difficulty walking, Abnormal granulocyte morp... ORPHA:98907
Aica-Ribosuria Due To Atic Deficiency
Prominent nasal bridge, Atrial septal defect, Anteverted nares OMIM:608688
Al-Gazali-Bakalinova Syndrome
Lymphedema, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... ORPHA:66628
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Gastroesophageal reflux, Intestinal mal... OMIM:156810
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Patent ductus arteriosus, Hepatomegaly, Anemia, Anteverted nares, Recurrent... ORPHA:1842
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Asplenia, Chronic ... OMIM:244400
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Underdeveloped nasal alae, Short nose, Death in infancy, Dextr... ORPHA:2315
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Double ... OMIM:618164
Lambotte Syndrome
Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Atrial septal defect, Colon cancer, Holoprosencephaly, Abnormal aort... ORPHA:1052
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... ORPHA:179494
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Bicuspid ao... OMIM:619149
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Cleft palate, A... OMIM:619123
Teebi Hypertelorism Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Wide nasal bridge, Depressed nasal b... OMIM:145420
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary artery hypoplasia, Bicuspid aor... OMIM:613426
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Increased proportion of CD25+ mast c... ORPHA:2442
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Anteverted nares ORPHA:1035
Coffin-Siris Syndrome 5
Atrial septal defect, Wide nose, Depressed nasal bridge OMIM:616938
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Telangiectasia OMIM:615381
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Umbilical hernia, Dextrocardia, Cleft palate, Gl... OMIM:616145
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Large placenta, Choanal atresia, Patent ductus arteri... ORPHA:1662
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Short nose, Ventricular septal defect, Wide nasal bridge, Tetralogy of Fallot, Tran... OMIM:227255
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Hypertriglyceridemia, Microcornea, Attention deficit hype... ORPHA:819
Gracile Bone Dysplasia
Ankyloglossia, Hypoplastic spleen, Asplenia OMIM:602361
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Bulbous nose ORPHA:466926
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Giant cell hepatitis, Ventricular septal defect, Death in infancy, Jaundice... OMIM:208085
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618142
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Neutropenia, Pancytopenia, ... ORPHA:167
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Cleft palate ORPHA:2165
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Atrial septal defect, Ventricular septal de... OMIM:270400
17Q12 Microduplication Syndrome
Atrial septal defect, Tracheoesophageal fistula ORPHA:261272
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Narrow naris, Patent ductus arteriosus, Wide nasal ... OMIM:614976
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Conjunctivitis, Anemia, Splenomegaly OMIM:617591
Mental Retardation, Buenos Aires Type
Intrahepatic biliary atresia, Prominent nose, Atrial septal defect, Wide nasal bridge OMIM:249630
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Alveolar c... OMIM:265380
3C Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Abnormal tricuspid valve morphology,... ORPHA:7
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
22Q11.2 Deletion Syndrome
Hypocalcemia, Gastrointestinal hemorrhage, Posterior embryotoxon, Hypertensive crisis, Thrombocyt... ORPHA:567
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Atrioventricular canal defect... OMIM:600123
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect, Prominent nasal bridge OMIM:605321
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hypertension, Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hypert... ORPHA:79083
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:2348
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Prominent nasal bridge, Aortic aneur... OMIM:130090
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Tracheomalacia, Atelectasis, Narrow nasal bridge ORPHA:896
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly, Cleft palate OMIM:614175
Mosaic Trisomy 9