Gene Summary

Name:
activin receptor IIB
Synonyms:
ActRIIB

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
enlarged kidney Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
polycystic kidney Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal kidney morphology Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, incomplete penetrance Acvr2btm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section 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)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum 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 Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum 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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis 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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

38 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Acvr2b 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 associated to Acvr2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... OMIM:613751

The table below shows human diseases predicted to be associated to Acvr2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... OMIM:618845
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Unilateral vertebral artery hypoplasia,... OMIM:613686
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Renal agenesis... ORPHA:294975
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Narrow chest, Vertebral segmentation defect, Chronic kidney disease, Hypoplastic left heart, Unil... OMIM:617661
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... OMIM:613751
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... OMIM:608406
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia OMIM:173800
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of ... ORPHA:1354
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Meacham Syndrome
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Pulm... OMIM:608978
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... ORPHA:1666
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Dextrocardia, Supernumerary ribs, Vertebral fusion OMIM:221950
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Diabetic Embryopathy
Vertebral segmentation defect, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Abnorm... ORPHA:1926
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular se... ORPHA:261243
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Adams-Oliver Syndrome 6
Splenomegaly, Cutis marmorata, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Por... OMIM:616589
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... OMIM:612946
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Abnormality of the vertebral column, Enlarged ki... OMIM:314390
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Hepatopulmonary... OMIM:618280
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Truncus arteriosus OMIM:601355
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Verheij Syndrome
Abnormal cardiac septum morphology, Renal agenesis, Hemivertebrae, Short neck, Scoliosis, Renal c... OMIM:615583
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Tra... ORPHA:1913
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... OMIM:610205
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Urethral steno... ORPHA:1727
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly, Missing ribs ORPHA:1759
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Hypospadi... ORPHA:2311
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Micropenis, Unilateral renal agenesis, Hypoplastic right heart, Crossed fus... OMIM:618142
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Recurre... OMIM:608681
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Hyperecho... OMIM:614576
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Even-Plus Syndrome
Atrial septal defect, Vertebral clefting, Recurrent urinary tract infections, Short neck, Renal h... OMIM:616854
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Midshaft hypospadias, Renal hypoplasia/aplasia, Patent ductus arteriosus ORPHA:2863
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Pectus excavatum, Scoliosis ORPHA:1937
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Hemivertebrae, Short neck, ... ORPHA:99776
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Atrial septal defect, Multicystic kidney dysplasia, Abnormal aortic valve morphology,... ORPHA:261197
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Scoliosis, Pectus carinatum, Cerebral cavernous ... OMIM:619910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Renal agenesis, Scoliosis, Renal hypoplasia, Hydronephrosis, ... OMIM:618494
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Renal hypoplasia, Abnormal vertebral morphology, Stillbirth,... OMIM:276950
Emanuel Syndrome
Kyphosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Renal agene... OMIM:609029
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Emanuel Syndrome
Kyphoscoliosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Unila... ORPHA:96170
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atrioventricular can... ORPHA:251071
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, Prominent sternum, Spondylolisthesis, Pulmonic stenosis, 11 pairs of ribs, Spin... OMIM:617877
Prune Belly Syndrome
Urogenital sinus anomaly, Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, ... ORPHA:2970
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect OMIM:608572
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Scoliosis, Hypoplasia of the odontoid proces... OMIM:609813
Braddock Syndrome
Pectus excavatum, Unilateral renal agenesis, Hemivertebrae, Short neck, Scoliosis, Missing ribs, ... ORPHA:52047
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia, Hypoplasia of penis, Abnormality of mesentery morpho... ORPHA:2256
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Hypoxemia, Cyanosis, Ureteral stenosis, Dextrocardia, Pulmonary hy... ORPHA:2257
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Narrow chest, Nephronophthisis, Short ribs, Abnormality of the kidney, ... ORPHA:1505
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Renal hypoplasia/aplasia, Scoliosis,... ORPHA:1988
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Desquamative interstitial pneumoniti... OMIM:263000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short neck, Abnormal renal morphology, Ventricular septal defect, Fused cer... OMIM:609053
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Hemivertebrae, 11 pairs of r... OMIM:264480
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... ORPHA:363444
Catel-Manzke Syndrome
Pectus excavatum, Short neck, Coarctation of aorta, Pectus carinatum, Ventricular septal defect, ... OMIM:616145
Poland Syndrome
Hemivertebrae, Short neck, Pectus carinatum, Sprengel anomaly, Vertebral segmentation defect, Sho... ORPHA:2911
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Splenogonada... OMIM:156810
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Muscular ventricular septal defect, Unil... OMIM:619227
Short-Rib Thoracic Dysplasia 12
Narrow chest, Hepatomegaly, Periportal fibrosis, Splenomegaly, Short ribs, Short neck, Cystic ren... OMIM:269860
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Renal hypoplasia/aplasia, Abnormal vertebral s... ORPHA:2345
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Hydroureter, Short neck, Scoliosis, Tetralogy of Fallot,... OMIM:201000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Scoliosis, Renal cortical hyperechogenicity, Beta... OMIM:611555
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Renal agenesis, Unilateral renal agenesis, Abnormality of the vertebral column,... OMIM:601076
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... ORPHA:2255
Marden-Walker Syndrome
Kyphosis, Abnormal sternum morphology, Micropenis, Hypospadias, Short neck, Scoliosis, Dextrocard... OMIM:248700
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular septal defect, Horsesh... OMIM:613680
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Stroke, Hepatic failure, Hemivertebrae, Reduced number of intr... OMIM:118450
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Tetralogy of Fallot ORPHA:3306
Catel-Manzke Syndrome
Ventricular septal defect, Pectus excavatum, Atrial septal defect, Scoliosis ORPHA:1388
Orofaciodigital Syndrome Xvii
Short neck, Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Floating-Harbor Syndrome
Short clavicles, Kyphoscoliosis, Atrial septal defect, Renal agenesis, Hypospadias, Short neck, 1... ORPHA:2044
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Abnormality of the kidney, C... ORPHA:101028
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Abnormality of the ... OMIM:118100
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Hypertrophy of the urinary bladder, Autoimmune thrombocytopenia, Renal dysplasi... OMIM:601389
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Ellis Van Creveld Syndrome
Narrow chest, Renal hypoplasia/aplasia, Atrial septal defect, Atrioventricular canal defect, Abno... ORPHA:289
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Lateral clavicle hook, Nephronophthisis, Splenomegaly, Hepa... OMIM:615630
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Short neck, Macrocytic anemia, Ventricular ... OMIM:614294
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic ... ORPHA:392
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Short clavicles, Short ribs, Unilateral renal agenesis, Singl... OMIM:308050
Marden-Walker Syndrome
Pectus excavatum, Abnormality of the upper urinary tract, Pectus carinatum, Ventricular septal de... ORPHA:2461
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Short neck, Patent foramen ovale OMIM:616789
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Pul... OMIM:236500
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect ORPHA:75389
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Butterfly vertebrae, Atrial septal defect, Hypoplastic left heart, Aortic valve ... OMIM:617660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Pectus excavatum, Kyphoscoliosis, Down-sloping shoulders, Hyperlordos... OMIM:616817
Pallister-Hall Syndrome
Rib fusion, Distal urethral duplication, Micropenis, Hemivertebrae, Hydroureter, Neonatal death, ... OMIM:146510
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, ... ORPHA:84064
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Nephro... ORPHA:474
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great art... OMIM:313850
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... OMIM:216360
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Distal Trisomy 6P
Abnormality of the urinary system, Short neck, Abnormal lung lobation, Long thorax, Renal hypopla... ORPHA:1745
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Hypospadias, Abnormal clavicle morphology, Tetralogy of Fallot ORPHA:276422
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Pectus carinatum, Renal hypoplasia, Patent ductus arteri... ORPHA:171839
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Pentalogy Of Cantrell
Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology, Renal agenesi... ORPHA:1335
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
8P Inverted Duplication/Deletion Syndrome
Pectus excavatum, Micropenis, Abnormality of the urinary system, Short neck, Scoliosis, Tetralogy... ORPHA:96092
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Secundum atrial septal defect, Micropenis, Unilateral renal agenesis, Scoliosis, Leukem... OMIM:619951
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallo... ORPHA:1166
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Ehlers-Danlos Syndrome, Classic-Like
Bruising susceptibility, Unilateral renal agenesis, Quadricuspid aortic valve, Mitral valve prola... OMIM:606408
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Ventricular sept... ORPHA:1780
Fanconi Anemia, Complementation Group F
Atrial septal defect, Leukopenia, Renal hypoplasia, Patent ductus arteriosus, Sacral dimple, Pneu... OMIM:603467
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Supern... ORPHA:64755
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Abnormal sternum morphology, Pulmonic stenosis, Unilateral re... OMIM:616737
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Hepatomegaly OMIM:614870
Floating-Harbor Syndrome
Short clavicles, Kyphoscoliosis, Atrial septal defect, Hypospadias, Glandular hypospadias, 11 pai... OMIM:136140
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... OMIM:615994
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Sacral dimple, Atrial septal defect, Scoliosis OMIM:608227
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Atrial septal defect, Hepatomegaly, Short ribs, Short neck, Bell-shaped thorax, Pat... ORPHA:1842
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... OMIM:617478
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Czeizel-Losonci Syndrome
Congenital megaureter, Abnormality of the urinary system, Ureteral agenesis, Spina bifida occulta... ORPHA:2437
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Rib fusion, Kyphosis, Atrial septal defect, Abnormality of th... ORPHA:280
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Cyanosis, C... ORPHA:3426
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormality of the spleen, Abnormal form of the vertebral bod... ORPHA:93941
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Shor... OMIM:271520
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cyanosis, Pleural effusion ORPHA:2414
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Unilateral renal agenesis, Methylmalonic aciduria, Intraventricular hemorrh... ORPHA:79284
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect, Short neck, V... ORPHA:508498
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... ORPHA:1120
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Renal insufficiency OMIM:618681
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Narrow chest, Pectus excavatum, Atrial septal defect, Bifid ribs, B... OMIM:213980
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, Sacral dimple, Scoliosis OMIM:619995
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Short ribs, Hypospadias, Hypoplastic scapulae, Renal cyst, Polycystic kidney dyspla... OMIM:614091
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Scoliosis, Tetralogy of Fallot,... OMIM:618316
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Asbestos Intoxication
Myocardial fibrosis, Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on ... ORPHA:2302
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Absence of renal corticomedullary differentiation, Hepatic failure... OMIM:619758
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Micropenis, Hypospadias, Hemivertebrae, Ventricular septal defec... OMIM:206900
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Short neck, Abnormal lung lobation, Ventricular septal ... ORPHA:2516
Duane-Radial Ray Syndrome
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Shoulder dislocation, Scoliosi... OMIM:607323
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Rib fusion, Vertebral segmentation defect, Pectus excavatum,... ORPHA:1507
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:614377
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Unilateral renal agenesis, Multicystic kidney dysplasia, Abnormality... OMIM:308205
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... ORPHA:2847
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Scolios... OMIM:179613
Alagille Syndrome
Vertebral segmentation defect, Telangiectasia of the skin, Peripheral pulmonary artery stenosis, ... ORPHA:52
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cutis marmorata, Patent ductus arteriosus, Hydronephrosis OMIM:609757
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Hypopla... ORPHA:2990
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Hypertrophic cardiomyopathy, Hepatomegaly, Renal hypoplasia OMIM:619053
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Scoliosis, Coarctation of aorta, Renal cyst, Renal hypoplasia... OMIM:618454
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Patent ductus arteri... ORPHA:290
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan... OMIM:252920
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypos... ORPHA:2315
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Ectopic kidney, Truncu... ORPHA:401935
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Sprengel anomaly, Micropenis, Atrioventricular canal defect, Coarctation of aorta, Dextrocardia OMIM:618929
Zttk Syndrome
Rib fusion, Kyphosis, Atrial septal defect, Unilateral renal agenesis, Hemivertebrae, Polyuria, S... OMIM:617140
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology ORPHA:2772
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Narrow chest, Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Thoracic dysp... OMIM:614376
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Mental Retardation, Buenos Aires Type
Pectus excavatum, Atrial septal defect, Intrahepatic biliary atresia, Hypospadias, Abnormality of... OMIM:249630
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Atrial septal defect, Lymphopenia, Severe B lymphocytopenia, A... OMIM:620005
Bresek Syndrome
Hemivertebrae, Hypoplasia of the bladder, Neonatal death, Scoliosis, Renal dysplasia, Renal hypop... ORPHA:85284
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
3Q29 Microdeletion Syndrome
Pectus excavatum, Hypospadias, Pectus carinatum, Six lumbar vertebrae, Subvalvular aortic stenosi... ORPHA:65286
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Unilateral renal agenesis, Neonatal death, Ventricular septal defect, Paten... OMIM:620024
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly OMIM:608776
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly... OMIM:230500
Thanatophoric Dysplasia
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the kidney, Platyspondyly, Pulmonary... ORPHA:2655
Noonan Syndrome 12
Spinal canal stenosis, Pectus excavatum, Lymphopenia, 11 pairs of ribs, Tetralogy of Fallot, Vent... OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Aminoaciduria, Stroke, Ventricular septal defect, Sit... OMIM:249270
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Thin ribs, Splenomegaly, Pulmonic stenosis, L... OMIM:608149
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Vater/Vacterl Association
Abnormal sternum morphology, Renal agenesis, Hypospadias, Scoliosis, Tetralogy of Fallot, Renal d... OMIM:192350
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Micropenis, Pulmonic stenosis, Abnormal renal co... OMIM:134780
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis, Pectus excavatum, Scoliosis OMIM:616362
Pseudo-Torch Syndrome 2
Petechiae, Secundum atrial septal defect, Hepatomegaly, Thin ribs, Cerebral hemorrhage, Abnormal ... OMIM:617397
Mucopolysaccharidosis-Plus Syndrome
Pectus excavatum, Hepatomegaly, Short neck, Pectus carinatum, Enlarged kidney, Proteinuria, Bone ... OMIM:617303
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cockayne Syndrome Type 3
Kyphosis, Hepatomegaly, Stroke, Premature coronary artery atherosclerosis, Splenomegaly, Unilater... ORPHA:90324
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Thanatophoric Dysplasia Type 2
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the kidney, Platyspondyly, Patent du... ORPHA:93274
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Rib fusion, Kyphoscoliosis, Atrial septal defect, Mic... ORPHA:97360
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
7Q11.23 Microduplication Syndrome
Pectus excavatum, Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospa... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Scoliosis OMIM:619717
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth OMIM:263630
Diamond-Blackfan Anemia 1
Narrow chest, Atrial septal defect, Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemi... OMIM:105650
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysp... OMIM:231680
Ververi-Brady Syndrome
Scoliosis, Transposition of the great arteries OMIM:617982
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Acrofacial Dysostosis 1, Nager Type
Urticaria, Unilateral renal agenesis, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:154400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormal sternum morphology, Unilateral renal agenesis, Hypospadias, Scoliosis, Abnormality of th... ORPHA:487796
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, 11 pairs of ribs, Spinal canal stenosis, Rib fusion, Hypoplas... ORPHA:1606
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect OMIM:611376
Leopard Syndrome 1
Kyphoscoliosis, Pectus excavatum, Micropenis, Pulmonic stenosis, Unilateral renal agenesis, Hypos... OMIM:151100
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Scoliosis OMIM:617190
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Pectus excavatum, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospa... ORPHA:464311
Khan-Khan-Katsanis Syndrome
Scoliosis, Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesi... OMIM:618460
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan... OMIM:252900
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Jaundice ORPHA:1296
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... ORPHA:93267
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Atrial septal defect, Micropenis, Long clavicles, Short neck, 11 pairs of ribs, Platyspondyly, Te... OMIM:210710
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Scoliosis OMIM:619504
Trisomy 13
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the ureter, Scoliosis, Multiple rena... ORPHA:3378
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... ORPHA:79126
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defe... OMIM:214300
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Short sternum, Pectus carinatum, Enlarged kidney,... OMIM:312870
Noonan Syndrome 8
Abnormal sternum morphology, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertroph... OMIM:615355
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... ORPHA:3304
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Methylmalonic aciduria, Homocystinuria, Coarctation of aorta, Bell-shaped t... OMIM:614857
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Atrial septal defect, Short ribs, Micropenis, Ventricular septal def... ORPHA:2519
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Renal tubular acidosis, Ri... OMIM:208085
3C Syndrome
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Aortic valve stenosis, Hypoplas... ORPHA:7
Noonan Syndrome 11
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic ... OMIM:618499
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... OMIM:280000
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal cardiac septum morphology, Hypoplasia of penis, Renal age... ORPHA:887
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale OMIM:618914
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder, Hypospadias ORPHA:96097
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Pectus excavatum, Micropenis OMIM:244200
Restrictive Dermopathy
Atrial septal defect, Thin ribs, Aplasia/Hypoplasia of the clavicles, Hypospadias, Thin clavicles... ORPHA:1662
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Atrial septal defect OMIM:613458
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... OMIM:619534
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Pectus excavatum, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospa... ORPHA:464306
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Cyanosis And Hepatic Disease
Hepatitis, Cyanosis OMIM:219400
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality o... ORPHA:1834
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Scoliosis ORPHA:357225
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Kyphosis, Prominent sternum, Hepatomegaly, Lumbar kyphosi... OMIM:253000
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Mucopolysaccharidosis Type 6
Kyphosis, Splenomegaly, Recurrent upper respiratory tract infections, Short neck, Broad ribs, Muc... ORPHA:583
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale OMIM:601450
Li-Campeau Syndrome
Atrial septal defect, Micropenis, Ventricular septal defect, Patent ductus arteriosus, Patent for... OMIM:619189
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Hypospadias, Left ventricular hypertrophy, Sh... OMIM:611209
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Micropenis, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasia, Ect... OMIM:616541
Cardiofaciocutaneous Syndrome 3
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Short neck, Scoliosis, Ventricular sep... OMIM:615279
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Renal hypoplasi... ORPHA:2470
White Forelock With Malformations
Sprengel anomaly, Atrial septal defect, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Sacral dimple, Severe photosensiti... OMIM:270400
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Renal insufficiency ORPHA:281090
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short ribs, Bell-shaped thorax, Renal cyst, Renal hypoplasia, Horizontal ribs, Pulm... OMIM:616300
Chime Syndrome
Pulmonary valve atresia, Abnormality of the kidney, Erythema, Tetralogy of Fallot, Ventricular se... ORPHA:3474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Spinal rigidity, Pulmonic stenosis, Scoliosis, Dilated... OMIM:253800
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Cyanosis, Abnormal cor... ORPHA:980
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Splenomegaly, Recurren... OMIM:252930
Melnick-Needles Syndrome
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Scoliosis, Abnormal rib morpho... ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... OMIM:113650
Distal Tetrasomy 15Q
Kyphosis, Abnormal sternum morphology, Atrial septal defect, Abnormality of the kidney, Nephrobla... ORPHA:314588
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, Bicuspid aortic valve, Pectus excavatum, Kyphoscoliosis, Subdural hemorrhag... ORPHA:536545
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Digeorge Syndrome
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Abnormality of the thymus, Splenomeg... OMIM:188400
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Neuralgic Amyotrophy
Sprengel anomaly, Scapular winging, Acrocyanosis ORPHA:2901
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Peripheral arteriovenous fistula, Hematuria, Microcytic anemi... ORPHA:90308
Noonan Syndrome 4
Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Bruising susceptibility, Hyp... OMIM:610733
Joubert Syndrome 18
Ventricular septal defect, Kyphoscoliosis, Horseshoe kidney OMIM:614815
Cornelia De Lange Syndrome 1
Short sternum, Reduced renal corticomedullary differentiation, Hypospadias, Cutis marmorata, Shor... OMIM:122470
Myopathy, Congenital, Nonprogressive