Gene Summary

Name:
coiled-coil domain containing 39
Synonyms:
b2b1304Clo,  b2b1735Clo,  prh,  4921507O14Rik,  b2b2025.1Clo,  D3Ertd789e

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
preweaning lethality, incomplete penetrance Ccdc39tm2b(KOMP)Wtsi 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 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  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 100% (2 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
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary 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 100% (2 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)
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)
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
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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood 0.0%
bone marrow 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 16.8% (21 of 125)
diaphragm 0.0%
duodenum 3.08% (4 of 130)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.81% (1 of 124)
heart 0.37% (2 of 535)
hindlimb 0.0%
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
ileum 15.83% (19 of 120)
jejunum 9.09% (12 of 132)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 294)
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
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 544)
prostate gland 2.15% (12 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
stomach pyloric region 0.0%
striatum 0.56% (3 of 540)
sublingual gland 0.0%
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
tongue 3.82% (5 of 131)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vagina 0.0%
vas deferens 4.49% (16 of 356)
vascular system 0.0%
vesicular gland 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 Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ccdc39 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 Ccdc39 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ccdc39 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... OMIM:619607
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... OMIM:615482
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615451
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... OMIM:615067
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615504
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615505
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615500
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, ... OMIM:614017
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Neonatal respiratory distress, Wheezing, Situs inversus totalis, ... OMIM:613807
Ciliary Dyskinesia, Primary, 17
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... OMIM:614679
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... OMIM:613193
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... OMIM:618254
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... OMIM:306955
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Ciliary Dyskinesia, Primary, 9
Cough, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary ... OMIM:612444
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... OMIM:617577
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615444
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato... OMIM:618699
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614935
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... OMIM:612650
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:608647
Ciliary Dyskinesia, Primary, 38
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Neonatal respiratory distress, Br... OMIM:618063
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Cough, Situs inversus totalis, Wheezing, Chronic sinusitis, Recurrent pneumon... OMIM:613808
Mirror Movements 3
Situs inversus totalis OMIM:616059
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ciliary Dyskinesia, Primary, 35
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent res... OMIM:617092
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Hypoglossia With Situs Inversus
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia OMIM:615985
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Situs inversus totalis, Dextrocardia, Missing ribs, Restr... OMIM:613686
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
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... OMIM:314390
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... OMIM:619608
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... ORPHA:1666
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Diabetic Embryopathy
Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal defect, Abnorm... ORPHA:1926
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Mandibula... OMIM:609008
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Delayed CN... OMIM:617800
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis OMIM:616481
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Abdominal situs inversus, Ventric... OMIM:619123
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
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
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... OMIM:617022
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... OMIM:613095
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Gastroesophageal reflux, Coarc... OMIM:600987
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Micrognathia, Situs inversus... OMIM:202650
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... OMIM:618280
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskin... OMIM:244400
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic ki... ORPHA:1909
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Gastroesophageal reflux, Intestinal mal... OMIM:156810
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus ORPHA:2863
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... OMIM:192430
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Hypoxemia, Micrognathia, Tachypnea, Dextrocardia, P... ORPHA:2257
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Hydronephrosis OMIM:264140
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Patent ductus arteriosus, Protein-losing ent... OMIM:608104
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, High palate, Transposition of the great arteries, Perimembranous ventricular s... OMIM:617877
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Aminopterin/Methotrexate Embryofetopathy
Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defec... ORPHA:1908
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Gliosis, Gastroesop... ORPHA:79243
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscular ventricular septal... OMIM:115197
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Abnormal liver lobulation, Intestinal malrotatio... ORPHA:99776
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux, High, narrow palate OMIM:616920
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral hypomyelination, CNS hypomyelination, Ventriculomegaly OMIM:601170
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... ORPHA:2255
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Cerebral hypomyelination, Inflammation of the larg... OMIM:608809
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Pierre Robin Syndrome
Neonatal respiratory distress, Cor pulmonale, Micrognathia, Upper airway obstruction OMIM:261800
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... ORPHA:1759
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... ORPHA:251071
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Orofaciodigital Syndrome Xvii
Decreased body weight, High, narrow palate, Tetralogy of Fallot, Ventriculomegaly, CNS hypomyelin... OMIM:617926
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia OMIM:615872
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Alg2-Cdg
Lateral ventricle dilatation, Cerebral hypomyelination ORPHA:79326
Bardet-Biedl Syndrome 16
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... OMIM:615993
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... ORPHA:363444
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia OMIM:221950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... ORPHA:2306
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... ORPHA:391641
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Mandibular aplasia, Respiratory distress ORPHA:990
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... OMIM:615994
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Familial Visceral Myopathy
Micrognathia, Abdominal situs inversus ORPHA:2604
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Thoracoabdominal Syndrome
Cleft palate, Ectopia cordis, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of th... OMIM:313850
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Reduced respiratory ciliary beating freque... OMIM:617091
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter ORPHA:77299
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory insufficiency, Ventricular septal defect, Respiratory failure, ... OMIM:253300
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal defect, Transpos... ORPHA:1780
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Ciliary dyskinesia, Abnormal ciliary motility OMIM:610852
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Diffuse demyelination of the cerebral white matter, Abnormal astrocyte morphology, Ventr... ORPHA:168486
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination, Ventriculomegaly OMIM:615760
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Obesity, Dilated third ventricle, Delayed CNS myelination OMIM:617296
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia OMIM:242680
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Abdominal situs inversus ORPHA:2062
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Meckel diverticulum OMIM:300864
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Carpenter Syndrome 1
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:201000
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Gliosis, Delayed myelination, Small for gestational age OMIM:615095
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Lissencephaly 8
Cerebral hypomyelination, Occipital encephalocele, Ventriculomegaly OMIM:617255
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Craniofacioskeletal Syndrome
Atrial septal defect, Cleft palate, Ventricular septal defect, Absent gallbladder, Patent ductus ... OMIM:300712
Stormorken Syndrome
Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies OMIM:185070
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Kleeblattschaedel
Hydrocephalus OMIM:148800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Hallermann-Streiff Syndrome
Supernumerary tooth, Malar flattening, Short ribs, Small hand, Micrognathia, Tracheomalacia, Resp... ORPHA:2108
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Ventricular septal defect, Renal cyst, Renal hypoplasia, Respiratory f... OMIM:228940
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... OMIM:242670
Spastic Paraplegia 50, Autosomal Recessive
High palate, Gliosis, Ventriculomegaly OMIM:612936
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... ORPHA:101028
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Bronchiectasis OMIM:618801
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... OMIM:217085
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
16P13.2 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventriculomeg... ORPHA:500055
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination, Ventriculomegaly OMIM:617613
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery... ORPHA:1166
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot ORPHA:250994
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology ORPHA:2185
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle... ORPHA:3078
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Coarctation of aorta, Tetralo... ORPHA:2209
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Cleft palate OMIM:147770
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Delayed myelination, Failure to thrive in infancy ORPHA:284417
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Delayed myelination ORPHA:85290
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... OMIM:601612
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... OMIM:614886
Sotos Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Gastroesophageal reflux, M... OMIM:117550
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Sandestig-Stefanova Syndrome
High palate, Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Mungan Syndrome
Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstructio... OMIM:611376
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... ORPHA:2326
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cleft palate, Intracranial hemorrhage, Thrombocytopenia, Ventricular septal... ORPHA:163979
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Failure to thrive, Hydrocephalus, High, narrow palate, Leukodystrophy, Dilated third ventricle, H... OMIM:619575
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... OMIM:264480
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia, Ventricular septal defect, D... OMIM:614294
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Delayed CNS myelination OMIM:619725
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect, Histiocytoid cardiom... OMIM:309801
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... ORPHA:1667
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Delayed myelination, Ventriculomegaly OMIM:618367
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... OMIM:614034
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Abnormal ao... ORPHA:2516
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Short Rib-Polydactyly Syndrome
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... ORPHA:1505
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Slc35A2-Cdg
Gastroesophageal reflux, Delayed myelination, Tetralogy of Fallot, Lateral ventricle dilatation, ... ORPHA:356961
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Gastroesophageal reflux, Colpocephaly, Dilated third ventricle, Lateral ventri... ORPHA:397715
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Large for gestational age, Lateral ventricle... ORPHA:544488
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Delayed CNS ... OMIM:619302
Frontal Encephalocele
Leukodystrophy, Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Gastroesophageal reflux, Coarctation of aorta, Elevated hepatic transaminase, Inter... ORPHA:17
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Micrognathia, Short hallux, Short thumb... ORPHA:280
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, CNS hypomyelination, Failure to thrive OMIM:616494
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Chromosome 9P Deletion Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... OMIM:158170
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... OMIM:618624
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Malar flattening, Aplasia/Hypoplasia of the... ORPHA:52056
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Feingold Syndrome 1
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... OMIM:164280
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Malan Overgrowth Syndrome
High palate, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Patent ductus arteriosus, Ankyloglossia, Interru... ORPHA:250989
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, CNS hypomyelination, Cerebral hypomyelination OMIM:300475
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... OMIM:616589
Alg3-Cdg
High palate, Decreased liver function, Macroglossia, Coarctation of the descending aortic arch, A... ORPHA:79321
Poland Syndrome
Dextrocardia OMIM:173800
Hemimegalencephaly
Gliosis, Ventriculomegaly ORPHA:99802
Down Syndrome
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... OMIM:190685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... OMIM:280000
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Gliosis, Delayed myelination, Small for gestational age, Ventriculomegaly, CNS... OMIM:214150
Cach Syndrome
Dysphagia, Lateral ventricle dilatation, Dysmyelinating leukodystrophy, T2 hypointense thalamus ORPHA:135
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, CNS hypomyelination, Increased CSF lactate, Agenesis of corpus callosum OMIM:616239
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Severe demyelination of the white matter ORPHA:488635
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotat... OMIM:249000
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... ORPHA:2059
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Delayed CNS myelination OMIM:300884
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Respiratory failure, Hydronephrosis OMIM:618240
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valve, Delayed CNS myelination OMIM:615599
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persistence of hemoglobin ... OMIM:612561
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Conical incisor, Atrial septal defect, Atrioventricular canal def... ORPHA:289
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Leukopenia, Pulmonary artery atre... OMIM:301056
Joubert Syndrome
Situs inversus totalis, Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:475
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilob... OMIM:609637
Facial Dysmorphism With Multiple Malformations
Anal atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries... OMIM:227255
Charcot-Marie-Tooth Disease, Type 4A
Onion bulb formation, Basal lamina onion bulb formation, Decreased number of peripheral myelinate... OMIM:214400
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Delayed myelination, Hepatocellular carcinoma, Ventriculomegaly, CNS hypomyeli... ORPHA:88618
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Small for gestational age OMIM:618910
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Failure to thrive, Delayed myelination OMIM:616881
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Ventriculomegaly OMIM:614946
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... ORPHA:2847
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, CNS hypomyelination, Neonatal death, Subependymal cysts OMIM:610015
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Alexander Disease
Hydrocephalus, Increased CSF protein, Diffuse demyelination of the cerebral white matter OMIM:203450
Digeorge Syndrome
Cholelithiasis, High palate, Gastroesophageal reflux, High, narrow palate, Cleft palate, Splenome... OMIM:188400
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ab... ORPHA:96092
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia, Failure to... ORPHA:488627
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Gastroesophageal reflux, Oral-pharyngeal dysphagia ORPHA:208447
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Alg12-Cdg
Gastroesophageal reflux, Muscular ventricular septal defect, Intestinal malrotation, B lymphocyto... ORPHA:79324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Dilated third ventricle, Ventricular sep... ORPHA:464738
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Abnormal myelination, Occipital encephalocele ORPHA:352682
Pyruvate Carboxylase Deficiency
Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, Increased CSF lactate, ... ORPHA:3008
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Aganglionic megacolon OMIM:304100
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Hypochromic microcytic anem... ORPHA:66634
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flattening ORPHA:1388
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, CNS hypomyelination, Cerebral hypomyelination ORPHA:369939
Lissencephaly, X-Linked, 2
High palate, Gliosis, Agenesis of corpus callosum, Ventriculomegaly OMIM:300215
Biemond Syndrome Type 2
Obesity, Hydrocephalus ORPHA:141333
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Encephalocraniocutaneous Lipomatosis