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Gene: Ccdc39 MGI:1289263

Gene Summary

Name:

coiled-coil domain containing 39

Synonyms:

b2b1304Clo, b2b1735Clo, prh, 4921507O14Rik, b2b2025.1Clo, D3Ertd789e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Ccdc39^{tm2b(KOMP)Wtsi}	HOM		Early adult	0.00
preweaning lethality, incomplete penetrance		Ccdc39^{tm2b(KOMP)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
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	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
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.

Adult LacZ

LacZ Images Section

27 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Human diseases associated with Ccdc39 (2 diseases)
Human diseases predicted to be associated with Ccdc39 (1956 diseases)

The table below shows human diseases associated to Ccdc39 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 14		Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:613807
Primary Ciliary Dyskinesia		Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Intestin...	ORPHA:244

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

Disease	Matching phenotypes	Source
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal...	OMIM:614779
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r...	OMIM:618300
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou...	OMIM:619607
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:608644
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu...	OMIM:615451
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali...	OMIM:616749
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615504
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil...	OMIM:614874
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:300991
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:615505
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si...	OMIM:616037
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplen...	OMIM:619657
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease...	OMIM:615500
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres...	OMIM:270100
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:613807
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk...	OMIM:614017
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr...	OMIM:618254
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ...	OMIM:613193
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal...	OMIM:612444
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis...	OMIM:617092
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot...	OMIM:615444
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Intestin...	ORPHA:244
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia	ORPHA:66630
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit...	OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti...	OMIM:614935
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:608647
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec...	OMIM:620197
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:613808
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia	OMIM:612776
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia	OMIM:615985
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea...	OMIM:314390
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,...	ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Fetal Trimethadione Syndrome	Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu...	ORPHA:1330
Meacham Syndrome	Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc...	OMIM:608978
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim...	OMIM:619608
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot, Cleft palate, Abnorm...	ORPHA:1926
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Microcephaly 19, Primary, Autosomal Recessive	Delayed CNS myelination, Failure to thrive in infancy, Extra-axial cerebrospinal fluid accumulati...	OMIM:617800
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, A...	OMIM:619123
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma...	ORPHA:477817
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo...	OMIM:609008
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus...	OMIM:202650
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p...	OMIM:600987
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Absent frontal sinuses, Asplenia, Atelectasis, Bronchiectasis,...	OMIM:244400
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Absent gallbladder, Ventricular septal...	OMIM:600001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Cardiac-Urogenital Syndrome	Accessory spleen, Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextro...	OMIM:618280
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art...	OMIM:601186
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi...	ORPHA:1909
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return	OMIM:106700
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat...	OMIM:192430
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia	ORPHA:2863
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Micrognathi...	ORPHA:2257
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, Perimembranous ventricular...	OMIM:608104
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi...	ORPHA:1908
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Cleft palate, Aortic valve stenosis, Hypoplastic left heart, Pulmonic ...	OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Small for gestational age, Partial agenesis of the corpus callosum, Ce...	ORPHA:79243
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Heart And Brain Malformation Syndrome	High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux	OMIM:616920
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,...	ORPHA:99776
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Atrial septal defect, Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defec...	OMIM:618316
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse	OMIM:173900
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m...	ORPHA:1759
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na...	OMIM:612649
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:617616
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo...	OMIM:617877
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Missing ribs, ...	OMIM:613686
8P23.1 Microdeletion Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic...	ORPHA:251071
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect	OMIM:616816
Orofaciodigital Syndrome Xvii	High, narrow palate, CNS hypomyelination, Decreased body weight, Tetralogy of Fallot, Ventriculom...	OMIM:617926
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Basal ganglia gliosis, Demyelinating peripheral neuropathy, Dysphagia	OMIM:607596
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Delayed CNS myelination, Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dila...	OMIM:617296
Martsolf Syndrome 2	Lateral ventricle dilatation, Decreased body weight	OMIM:619420
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pericardial effusion, Multiple muscular ventricular septal defects, High palate, Gastroesophageal...	OMIM:620070
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Glutamine Deficiency, Congenital	CNS hypomyelination, Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Decreased ...	OMIM:610015
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Alg2-Cdg	Cerebral hypomyelination, Lateral ventricle dilatation	ORPHA:79326
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ...	OMIM:267010
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia	ORPHA:89844
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries...	OMIM:313850
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val...	OMIM:212093
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Delayed CNS myelination	OMIM:617668
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin...	ORPHA:391641
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal insufficiency, Abnor...	ORPHA:363444
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Ververi-Brady Syndrome	High palate, Transposition of the great arteries	OMIM:617982
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress, Mandibular aplasia	ORPHA:990
Familial Visceral Myopathy	Abdominal situs inversus, Micrognathia	ORPHA:2604
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Diffuse demyelination of the cerebral white matter	ORPHA:77299
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba...	ORPHA:99095
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Ciliary Dyskinesia, Primary, 6	Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis	OMIM:610852
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:277740
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	High palate, Ventriculomegaly, CNS hypomyelination	OMIM:615760
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Gliosis, Peripheral demyelination	OMIM:221770
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Sweeney-Cox Syndrome	Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r...	OMIM:617746
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Ventricular septal defect, Overweight, High, narrow palate, Hydrocephalus, Hem...	OMIM:619575
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ...	ORPHA:1780
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Lateral ventricle dilatation, High palate, Dilated third ventricle, Agenesis of c...	OMIM:619244
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, High palate, Transposition of the great arte...	OMIM:201000
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect	OMIM:618330
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lobulated tongue, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux, Failure to thrive	ORPHA:250994
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy...	OMIM:185070
Progressive Non-Infectious Anterior Vertebral Fusion	Abdominal situs inversus, Micrognathia	ORPHA:2062
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Gliosis, Diffuse demyelination of the cerebral white matter, Agene...	ORPHA:168486
Lissencephaly 8	Cerebral hypomyelination, Occipital encephalocele, Ventriculomegaly	OMIM:617255
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Delayed CNS myelination	OMIM:619517
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft pa...	OMIM:620210
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis	OMIM:618801
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Interrupte...	OMIM:300712
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Supernumerary tooth, Small hand, Respiratory insufficiency, Short foot...	ORPHA:2108
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Dilated third ventricle, Hydrocephalus, Cryptorchidism, Gastroesophageal reflux, Fail...	ORPHA:500055
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,...	ORPHA:101028
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle...	OMIM:616652
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Abnorma...	ORPHA:1166
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Delayed CNS myelination, Dilated third ventricle	OMIM:619725
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Failure to thrive in infancy, Delayed myelination	ORPHA:284417
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta...	OMIM:217085
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
You-Hoover-Fong Syndrome	Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring	OMIM:616954
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Delayed CNS ...	OMIM:619302
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do...	OMIM:614886
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio...	OMIM:601612
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Gaucher Disease, Type Ii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronchi...	OMIM:230900
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Maternal Phenylketonuria	Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H...	ORPHA:2209
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Delayed CNS myelination	OMIM:600721
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi...	OMIM:309801
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate	OMIM:618804
Sotos Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se...	OMIM:117550
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c...	ORPHA:2326
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta	OMIM:618929
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Perimembranous ventricular sep...	OMIM:611376
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Cleft ...	ORPHA:163979
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula...	OMIM:614294
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, High palate, Pulmonary ...	OMIM:612946
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di...	OMIM:614034
Glutaric Acidemia I	Hydrocephalus, Delayed myelination, Symmetrical progressive peripheral demyelination, Lateral ven...	OMIM:231670
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, High palate	OMIM:618354
Multiple Mitochondrial Dysfunctions Syndrome 5	Delayed myelination, Ventriculomegaly, Leukodystrophy	OMIM:617613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis	OMIM:618205
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly,...	ORPHA:17
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a...	OMIM:277380
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona...	OMIM:300845
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Respiratory insufficiency	ORPHA:2111
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao...	ORPHA:2516
Intellectual Developmental Disorder, Autosomal Dominant 56	Delayed CNS myelination, Delayed myelination, Lateral ventricle dilatation, High palate, Gastroes...	OMIM:617854
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Celiac disease, ...	ORPHA:544488
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, High palate, Volvulus, Failure to thrive, Dandy-Walker malformation	OMIM:618606
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc...	ORPHA:250989
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Small for gestational age, Delayed myelination, Cleft palate, CNS hypo...	OMIM:614261
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Meningocele, Colpocephaly,...	ORPHA:397715
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop...	OMIM:618624
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, High palate	OMIM:614846
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia	OMIM:215520
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Short hallux, Micrognathia, Sh...	ORPHA:280
Leukodystrophy, Hypomyelinating, 11	Failure to thrive, Leukodystrophy, CNS hypomyelination	OMIM:616494
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Delayed CNS myelination	OMIM:300884
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida, Leukodystrophy	ORPHA:1931
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Cryptorchidism, Delayed myelination, Gliosis, CNS demyelination, Failu...	OMIM:214150
Chromosome 9P Deletion Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb...	OMIM:158170
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Delayed myelination	ORPHA:85290
Hemimegalencephaly	Gliosis, Ventriculomegaly	ORPHA:99802
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,...	OMIM:616589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Alg3-Cdg	Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Cardiomyopa...	ORPHA:79321
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At...	ORPHA:371428
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl...	OMIM:616145
Poland Syndrome	Dextrocardia	OMIM:173800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, P...	OMIM:301056
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Atrioventricular canal defec...	OMIM:190685
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr...	OMIM:304100
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation, Dysmyelinating leukodystrophy, Dysphagia	ORPHA:135
Meckel Syndrome, Type 1	Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl...	OMIM:249000
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation	OMIM:256850
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Abn...	ORPHA:2059
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Cleft palate	OMIM:615716
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Dilated third ventricle, Delayed myelination, Gastroesophageal reflux, ...	OMIM:615574
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A...	ORPHA:52056
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Lissencephaly, X-Linked, 2	High palate, Gliosis, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly	OMIM:300215
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Bicuspid aortic valve, Hydrocephalus, Delayed CNS myelination, Aortic valve stenosis	OMIM:615599
Joubert Syndrome	Situs inversus totalis, Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:475
Digeorge Syndrome	High, narrow palate, Abnormal thymus morphology, High palate, Gastroesophageal reflux, Hypoplasia...	OMIM:188400
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation...	OMIM:214400
2,4-Dienoyl-Coa Reductase Deficiency	Delayed CNS myelination, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine...	OMIM:616034
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Small for gestational age, Lateral ventricle...	ORPHA:3078
Developmental And Epileptic Encephalopathy 86	Small for gestational age, CNS hypomyelination	OMIM:618910
S-Adenosylhomocysteine Hydrolase Deficiency	Delayed myelination, CNS hypomyelination, Cardiomyopathy, Hepatocellular carcinoma, Failure to th...	ORPHA:88618
Central Precocious Puberty In Male	Astrocytoma, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic ...	ORPHA:649929
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Delayed CNS myelination, Agenesis of corpus callosum, Gliosis	OMIM:615095
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn...	ORPHA:2847
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous cleft hard palate, Mitr...	OMIM:612863
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S...	OMIM:608779
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Lateral ventricle dilatation, Delayed CNS myelination	OMIM:614105
Joubert Syndrome 39	Hypopnea, Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Renal cyst	OMIM:174050
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd...	ORPHA:96092
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Gastroesophageal reflux, Oral-pharyngeal dysphagia	ORPHA:208447
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Gliosis, V...	OMIM:300957
Apert Syndrome	Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Cleft palate, ...	OMIM:101200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Cryptorchidism, Lateral ventricle dilatation, Gliosis, Dysphagia	OMIM:619847
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Severe demyelination of the white matter	ORPHA:488635
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral hypomyelination, Failure to thrive, CNS hypomyelination	ORPHA:369939
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Furrowed tongue, Lateral ventricle ...	ORPHA:464738
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal myelination	ORPHA:352682
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot	OMIM:613630
Combined Oxidative Phosphorylation Deficiency 24	Increased CSF lactate, Agenesis of corpus callosum, Gliosis, CNS hypomyelination	OMIM:616239
Aicardi Syndrome	Delayed CNS myelination, Spina bifida, Hiatus hernia, Partial agenesis of the corpus callosum, Ch...	OMIM:304050
Giant Cell Arteritis	Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Mediastinal lymphaden...	ORPHA:397
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Gliosis	OMIM:213200
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Joubert Syndrome 3	Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Delayed CNS myelination, Failure to thrive, Gastroesophageal reflux, CNS hypomyelination	OMIM:616577
Pyruvate Carboxylase Deficiency	Increased CSF alanine concentration, Increased CSF citrulline concentration, Delayed myelination,...	ORPHA:3008
Alg12-Cdg	Elevated hepatic transaminase, Recurrent respiratory infections, Intestinal malrotation, Recurren...	ORPHA:79324
Fried Syndrome	Hydrocephalus, High palate	ORPHA:85335
Leukoencephalopathy With Vanishing White Matter 1	Cerebral hypomyelination, CNS demyelination, Gliosis	OMIM:603896
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale, Lateral ventricle dilatation, Delayed CNS myelination	OMIM:620075
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula...	ORPHA:2461
Methimazole Embryofetopathy	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A...	ORPHA:1923
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aorti...	OMIM:617751
Mirage Syndrome	Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Hypoplastic spleen, Intracrania...	OMIM:617053
Renpenning Syndrome	Mandibular prognathia, Heterotaxy, Malar flattening	ORPHA:3242
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Pelizaeus-Merzbacher Disease	Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, CNS hypomyeli...	OMIM:312080
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Johanson-Blizzard Syndrome	Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anemia, Abnorma...	ORPHA:2315
Catel-Manzke Syndrome	Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia	ORPHA:1388
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, ...	ORPHA:564
Leukodystrophy, Hypomyelinating, 15	Failure to thrive, Dysphagia, Leukodystrophy, CNS hypomyelination	OMIM:617951
Alexander Disease	Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased CSF protein concentr...	OMIM:203450
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Hydrocephalus, Obesity, Mitral valve prolapse, Azoospermia	ORPHA:2183
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Cerebral dysmyelination, High, narrow palate, Velopharyngeal insufficie...	OMIM:201550
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe...	ORPHA:66634
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
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
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Gliosis	OMIM:614959
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Slc35A2-Cdg	Failure to thrive in infancy, Delayed myelination, Abnormal heart morphology, Lateral ventricle d...	ORPHA:356961
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Anal atresia	ORPHA:1381
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morph...	ORPHA:314588
Congenital Myopathy 11	Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa...	OMIM:619967
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V...	ORPHA:90308
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Isolated Cleft Lip	Situs inversus totalis, Supernumerary maxillary incisor	ORPHA:199302
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
L-2-Hydroxyglutaric Aciduria	Gliosis, Severe demyelination of the white matter	OMIM:236792
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebral hypomyelination, Failure to thrive	OMIM:300475
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Null Syndrome	Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination	ORPHA:280234
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve, Delayed myelination	ORPHA:397951
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ...	OMIM:618846
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology	OMIM:613390
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas...	ORPHA:2331
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Malan Overgrowth Syndrome	Lateral ventricle dilatation, High palate, Ventriculomegaly	ORPHA:420179
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Rubinstein-Taybi Syndrome 1	High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal...	OMIM:180849
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Hypoplastic left heart, Polycystic kidney...	ORPHA:261290
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Abnormal heart morpholog...	ORPHA:401935
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Narrow palate, CNS hypomyelination, Gastroesophageal reflux, High palate, Neonatal death	OMIM:618186
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,...	OMIM:608836
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th...	ORPHA:3474
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy, CNS hypomyelination	OMIM:619688
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Obesity, Ventriculomegaly	ORPHA:521390
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Abnormal heart morphology, ...	ORPHA:26791
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly, Leukodystrophy	OMIM:610333
Alexander Disease Type I	Cachexia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive	ORPHA:363717
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Ddost-Cdg	Failure to thrive, Gastroesophageal reflux, CNS hypomyelination	ORPHA:300536
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Pelizaeus-Merzbacher Disease, Transitional Form	CNS hypomyelination	ORPHA:280224
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic...	ORPHA:2001
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, CNS hypomyelination	OMIM:615281
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination	ORPHA:85163
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ...	OMIM:618223
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic...	OMIM:616166
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,...	ORPHA:261311
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Perim...	ORPHA:508498
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiomegaly, Red-brow...	ORPHA:228308
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Severe demyelination of the white matter, CNS hypomyelination, High palate, Failure to thrive, Ag...	ORPHA:481152
Knobloch Syndrome	Lymphangioma, Pyloric stenosis, Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epi...	ORPHA:157
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot	ORPHA:276422
Congenital Toxoplasmosis	Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly, Cardiomegaly	ORPHA:858
Perlman Syndrome	Distal ileal atresia, Volvulus, Pancreatic islet-cell hyperplasia, Interrupted aortic arch	OMIM:267000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Alagille Syndrome 2	Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal...	OMIM:610205
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,...	ORPHA:261197
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma...	ORPHA:353281
Spastic Paraplegia 50, Autosomal Recessive	High palate, Gliosis, Ventriculomegaly	OMIM:612936
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	CNS hypomyelination	ORPHA:88637
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Delayed CNS myelination, Protruding tongue, CNS hypomyelination, Extra-axial cerebrospinal fluid ...	OMIM:619580
Leukoencephalopathy, Cystic, Without Megalencephaly	Abnormal CNS myelination, Ventriculomegaly	OMIM:612951
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Basal ganglia gliosis, Myofiber disarray, Increased CSF lactate, High palate, Gliosis, Hypertroph...	OMIM:604377
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Bicuspid aortic valve, CNS hypomyelination, Macroglossia, High palate,...	OMIM:614501
Krabbe Disease	Hydrocephalus, CNS demyelination, Failure to thrive, Increased CSF protein concentration, Periphe...	OMIM:245200
Folinic Acid-Responsive Seizures	Cerebral hypomyelination, Delayed myelination, Decreased CSF 5-methyltetrahydrofolate concentrati...	ORPHA:79097
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagia...	ORPHA:488627
Leukodystrophy, Hypomyelinating, 12	Cerebral hypomyelination, Delayed myelination, Ventriculomegaly	OMIM:616683
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Cleft palate	OMIM:601355
Marden-Walker Syndrome	Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi...	OMIM:248700
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Leukodystrophy, CNS hypomyelination	OMIM:617560
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, High palate, CNS hypomyelination	OMIM:616158
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu...	ORPHA:2970
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, CNS hypomyelination	OMIM:614883
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothalamic hamartoma, CNS hypomyelination	OMIM:619908
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter...	ORPHA:163956
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn...	ORPHA:33276
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H...	OMIM:301043
Proteus Syndrome	Splenomegaly, Lymphangioma, Venous malformation	OMIM:176920
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Retractile testis, Gliosis, Ventriculomegaly, CNS hypomyelination	OMIM:617193
Hereditary Methemoglobinemia	Cerebral hypomyelination, Delayed myelination, Small for gestational age	ORPHA:621
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t...	OMIM:619769
Developmental And Epileptic Encephalopathy 5	Gastroesophageal reflux, CNS hypomyelination	OMIM:613477
Pagod Syndrome	Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m...	ORPHA:991
Giant Axonal Neuropathy	Abnormal pituitary gland morphology, CNS hypomyelination	ORPHA:643
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Leukodystrophy, CNS hypomyelination	OMIM:616420
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Abnormal lung lobation, Anomalous p...	ORPHA:1120
Combined Oxidative Phosphorylation Deficiency 11	Delayed myelination, CNS hypomyelination, Increased CSF lactate, Cardiomyopathy, Stillbirth, Neon...	OMIM:614922
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Charge Syndrome	Atrial septal defect, Anal stenosis, Overriding aorta, Ventricular septal defect, Lymphopenia, Se...	OMIM:214800
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Huntington Disease-Like 1	Gliosis, Ventriculomegaly, Weight loss	ORPHA:157941
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Odontochondrodysplasia 1	Respiratory distress, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	CNS demyelination, Gliosis, Dysphagia	OMIM:221820
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dysphagia, Leukodystrophy, CNS hypomyelination	OMIM:607694
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, CNS hypomyelination	OMIM:619423
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Leukodystrophy, CNS hypomyelination	ORPHA:527497
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo...	OMIM:601005
Congenital Myopathy 19	Respiratory insufficiency due to muscle weakness, Renal atrophy, Hydronephrosis, Respiratory insu...	OMIM:618578
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Delayed CNS myelination, Decreased response to growth hormone stimulation test, Failure to thrive...	OMIM:615286
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cervical myelopathy, Delayed CNS myelination, CNS hypomyelination	OMIM:619260
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Delayed myelination, Cardiomyopathy, Lateral ventricle dilatation, High...	ORPHA:572798
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult...	OMIM:615508
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ...	ORPHA:457279
Joubert Syndrome 20	Respiratory insufficiency, Renal cyst	OMIM:614970
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Agenesis of corpus ca...	OMIM:218350
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl...	OMIM:241310
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	High palate, CNS hypomyelination	OMIM:620023
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Delayed myelination, Dysphagia	ORPHA:2148
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Pontocerebellar Hypoplasia, Type 4	Gliosis, Dysphagia	OMIM:225753
4H Leukodystrophy	Cerebral hypomyelination, Decreased response to growth hormone stimulation test, Dysphagia	ORPHA:289494
Mullegama-Klein-Martinez Syndrome	Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea...	OMIM:301022
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole...	OMIM:614300
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis	OMIM:240300
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul...	ORPHA:1335
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Ciliary dyskinesia	ORPHA:1882
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidis...	ORPHA:434179
Czeizel-Losonci Syndrome	Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron...	ORPHA:2437
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Developmental And Epileptic Encephalopathy 79	CNS hypomyelination	OMIM:618559
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Delayed CNS myelination, CNS hypomyelination, Lateral ventricle dilatation, Dysphagia, Cerebral h...	OMIM:618367
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Apnea, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:254516
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Abnormal heart morphology, Gastroesophageal reflux, Gliosis, Anal atre...	ORPHA:261652
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Delayed CNS myelination, Cleft palate, High palate, Gastroesophageal reflux, Failure to thrive, A...	OMIM:618603
Developmental And Epileptic Encephalopathy 78	CNS hypomyelination	OMIM:618557
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia	OMIM:276950
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti...	OMIM:157800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination, Ventriculomegaly	OMIM:611555
Charge Syndrome	Aortic arch aneurysm, Abnormal soft palate morphology, Patent ductus arteriosus, Tracheoesophagea...	ORPHA:138
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Protruding tongue, Reduced alpha/beta synthesis ratio, Hypochromic mic...	OMIM:301040
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Tremor-Ataxia-Central Hypomyelination Syndrome	Dysphagia, Leukodystrophy, CNS hypomyelination	ORPHA:447896
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Multiple Mitochondrial Dysfunctions Syndrome 4	Leukodystrophy	OMIM:616370
Leigh Syndrome	CNS demyelination, Failure to thrive, Gliosis, Increased CSF lactate	OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis	OMIM:615119
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ...	OMIM:612474
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Ventricular septal defect, Overweight, Obesity, Dysphagia, Lateral ventricle...	OMIM:619229
Fumarase Deficiency	Necrotizing enterocolitis, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hi...	OMIM:606812
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Kaya-Barakat-Masson Syndrome	CNS hypomyelination	OMIM:619125
Aicardi-Goutieres Syndrome 9	Delayed CNS myelination, Pericarditis, Pericardial effusion, Weight loss, Lateral ventricle dilat...	OMIM:619487
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, CNS hypomyelination	OMIM:618437
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast...	OMIM:619534
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu...	ORPHA:1662
Leukodystrophy, Hypomyelinating, 22	CNS hypomyelination	OMIM:619328
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Failure to thr...	OMIM:300952
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive, High palate, Cardiomegaly	OMIM:269920
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Halperin-Birk Syndrome	High palate, Pseudobulbar paralysis, Perimembranous ventricular septal defect, Gastroesophageal r...	OMIM:618651
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Median ...	ORPHA:40366
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral hypomyelination, Dysphagia, Leukodystrophy, CNS hypomyelination	OMIM:614381
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Delayed myelination, Gastroesophageal reflux, Esophagitis, Cerebral hypomyelination, Failure to t...	ORPHA:79351
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy...	ORPHA:699
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Isolated Polycystic Liver Disease	Multiple renal cysts, Respiratory insufficiency	ORPHA:2924
Vater/Vacterl Association	Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul...	OMIM:192350
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve...	OMIM:619472
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia	OMIM:225050
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Cryptorchidism, Cleft palate, Glossoptosis, Lateral ventricle dilat...	OMIM:611209
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:602501
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma...	ORPHA:353277
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron...	OMIM:611560
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P...	OMIM:619189
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Dandy-Walker malformation, Hydrocephalus, Dysphagia, Meckel diverticulum, Ventriculomegaly	ORPHA:163961
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cog5-Cdg	Cryptorchidism, Lateral ventricle dilatation, High palate, Delayed myelination	ORPHA:263487
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect, Short metatarsal, Short 4th metacarpal	OMIM:113301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Cleft soft palate...	OMIM:619503
Distal Deletion 10Q	Spina bifida occulta, Cleft palate, Lateral ventricle dilatation, High palate, Atrial septal defe...	ORPHA:96148
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	OMIM:609757
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:610978
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Spastic Paraplegia 44, Autosomal Recessive	CNS hypomyelination	OMIM:613206
Pallister-Hall-Like Syndrome	Occipital encephalocele, Glioma, Hydrocephalus, Microglossia, Cleft palate, Hypothalamic hamartom...	OMIM:241800
Spasticity, Childhood-Onset, With Hyperglycinemia	Leukodystrophy	OMIM:616859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Left ventricular hypertrophy, Dandy-Walker malformation, Agenesis of corpus callos...	OMIM:613153
De Barsy Syndrome	Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas...	ORPHA:2962
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Temple Syndrome	Small for gestational age, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Cleft palate, Trun...	OMIM:616222
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat...	OMIM:614976
Neurooculorenal Syndrome	Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of...	OMIM:620305
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Leukodystrophy, CNS hypomyelination	OMIM:610532
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Delayed CNS myelination, Ventriculomegaly, Hydrocephalus, Colpocephaly, High palate, Gastroesopha...	OMIM:619833
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast...	ORPHA:904
German Syndrome	Abnormal cardiac septum morphology, Tetralogy of Fallot, High palate, Dysphagia	ORPHA:2077
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Developmental And Epileptic Encephalopathy 93	CNS hypomyelination	OMIM:618012
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami, Ventricular septal defect, Dilated fourth ventricle, CNS hy...	OMIM:619306
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Failure to thrive, Gliosis, Abnormal myelination	ORPHA:280210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocepha...	ORPHA:300570
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Atrial se...	OMIM:309500
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate	ORPHA:565624
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate	OMIM:619895
Leukodystrophy, Hypomyelinating, 2	Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy	OMIM:608804
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Noonan Syndrome 14	Cryptorchidism, High, narrow palate, Mitral valve prolapse, Lateral ventricle dilatation, Pulmoni...	OMIM:619745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Cardiomyopathy, Hydrocephalus	OMIM:613155
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect	OMIM:618569
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl...	ORPHA:567
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue furrow, H...	OMIM:312870
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Leukodystrophy	OMIM:616763
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	CNS hypomyelination	OMIM:619286
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art...	ORPHA:2041
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hep...	ORPHA:84064
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation	OMIM:220220
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation	ORPHA:2328
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosum, Ventriculo...	OMIM:175700
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Dextrocardia, Cleft palate	ORPHA:220493
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Dysphagia, Leukodystrophy, CNS hypomyelination	OMIM:619576
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Delayed CNS myelination	OMIM:618731
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Pulmonic stenosis, Atrial s...	OMIM:619149
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, CNS hypomyelination	OMIM:618622
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Gliosis	ORPHA:357225
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Warsaw Breakage Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Pseudoaminopterin Syndrome	Asplenia, High palate, Patent foramen ovale	ORPHA:221120
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Micromelia, Patent ductus arteriosus,...	ORPHA:1842
Autosomal Recessive Spastic Paraplegia Type 44	CNS hypomyelination	ORPHA:320401
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, High, narrow palate, Narrow palate, Cerebral hypomyelination, Right ventricular ...	OMIM:612949
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Inverted Duplicated Chromosome 15 Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Delayed CNS myelination, Ventriculomegaly	OMIM:616362
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri...	ORPHA:452
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Arima Syndrome	Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti...	OMIM:243910
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal pulmon...	ORPHA:268261
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Gastroesopha...	OMIM:210710
Leukodystrophy, Hypomyelinating, 6	Cerebral hypomyelination, Leukodystrophy	OMIM:612438
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu...	OMIM:300166
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Agenesis of corpus callosum...	OMIM:620156
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Incisor macrodontia, Coarctation of aorta	OMIM:615502
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Abnormal thalamic MRI signal intensity, CNS hypomyelination	ORPHA:309155
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr...	OMIM:249420
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Leukoencephalopathy, Brain Calcifications, And Cysts	Leukodystrophy	OMIM:614561
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Tetralogy of Fallot	OMIM:250620
Gabriele-De Vries Syndrome	Delayed CNS myelination, Cryptorchidism, Lateral ventricle dilatation, High palate, Patent forame...	OMIM:617557
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Overweight, Gliosis, High palate, Decrease...	ORPHA:457240
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Malar flattening, Micrognathia	ORPHA:93946
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H...	OMIM:618748
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc...	OMIM:600460
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Atria...	OMIM:618142
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Abnorma...	OMIM:300514
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Patent ductus arteriosus, Respiratory failure, Pulmonary hypoplasi...	OMIM:616867
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Lateral ventricle dilatation, Dysphagia, Hypothalamic atrophy	ORPHA:2822
3C Syndrome	Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In...	ORPHA:7
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P...	OMIM:608149
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus...	OMIM:617159
Meckel Syndrome 14	Cardiorespiratory arrest, Pneumothorax, Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Leukodystrophy	OMIM:619196
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Transposition of the great art...	OMIM:256520
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, CNS hypomyelination, Dysphagia, Failure to...	OMIM:618922
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Combined Oxidative Phosphorylation Deficiency 14	Basal ganglia gliosis, Gliosis, Ventriculomegaly, Increased CSF lactate	OMIM:614946
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Spontaneous pneumothorax, Renal cyst	OMIM:135150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Hydronephrosis	OMIM:619797
Bainbridge-Ropers Syndrome	Intestinal malrotation, Cryptorchidism, Lateral ventricle dilatation, High palate, Gastroesophage...	OMIM:615485
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Gliosis	OMIM:604484
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, CNS demyelination, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618237
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Leopard Syndrome 3	Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal aortic valve morphology	OMIM:613707
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Developmental And Epileptic Encephalopathy 29	Failure to thrive, CNS hypomyelination	OMIM:616339
Huntington Disease	Gliosis	OMIM:143100
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Sporadic Creutzfeldt-Jakob Disease	Increased CSF protein concentration, Gliosis, Astrocytosis	ORPHA:204
Retinal Dystrophy With Leukodystrophy	Cleft palate, CNS hypomyelination	OMIM:618863
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst, Cleft soft palate	ORPHA:293725
Juvenile Amyotrophic Lateral Sclerosis	Dysphagia, Cachexia, CNS hypomyelination	ORPHA:300605
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Houge-Janssens Syndrome 1	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Aase-Smith Syndrome I	Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Pyloric stenosis, Cleft palate, Peri...	ORPHA:83617
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus...	ORPHA:555874
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Failure to thrive, Small for gestational age, Lateral ventricle dilatat...	OMIM:619869
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly	ORPHA:93274
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, Agenesis of corpus...	OMIM:207950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He...	OMIM:612541
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B...	ORPHA:3310
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bilateral lun...	OMIM:618021
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Dysphagia	OMIM:300857
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy...	OMIM:606232
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Anten...	ORPHA:536545
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callo...	OMIM:225790
Adenylosuccinase Deficiency	Cerebral hypomyelination, CNS hypomyelination	OMIM:103050
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:614815
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m...	ORPHA:261537
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Retrognathia, Micrognathia, Abnormal heart morphology	ORPHA:352490
Weaver Syndrome	Delayed CNS myelination, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricu...	OMIM:277590
1Q44 Microdeletion Syndrome	Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Agenesis ...	ORPHA:238769
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Acrocardiofacial Syndrome	Mitral stenosis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Atrial septal def...	ORPHA:2008
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal...	OMIM:617925
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal f...	ORPHA:77298
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology...	OMIM:618494
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Hydrocephalus	ORPHA:2181
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Cleft hard palate, Pyloric ...	ORPHA:2152
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Immunodeficiency 26 With Or Without Neurologic Abnormalities	CNS hypomyelination	OMIM:615966
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Cleft palate, Hypert...	OMIM:612938
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pu...	OMIM:614857
Huppke-Brendel Syndrome	CNS hypomyelination	OMIM:614482
Machado-Joseph Disease	Dilated fourth ventricle, Gliosis, Dysphagia	OMIM:109150
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis, Dysphagia	OMIM:618369
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate	OMIM:300558
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, High, nar...	OMIM:614816
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Card...	ORPHA:370959
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventricular septal defect, Obesity, Ventriculomegaly	OMIM:615630
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu...	OMIM:615219
Spinocerebellar Ataxia 17	Gliosis, Dysphagia	OMIM:607136
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation	ORPHA:137608
Ring Chromosome 7 Syndrome	Situs inversus totalis, Cleft palate, Hydrocele testis, Holoprosencephaly, Median cleft palate, B...	ORPHA:1449
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Mosaic Trisomy 1	Ventricular septal defect, Lateral ventricle dilatation, Agenesis of corpus callosum, Cleft palate	ORPHA:1692
Multiple Mitochondrial Dysfunctions Syndrome 3	Increased CSF lactate, High palate, Increased CSF glycine concentration, Leukodystrophy, Ventricu...	OMIM:615330
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly, Leukodystrophy	OMIM:619851
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv...	ORPHA:261552
Emanuel Syndrome	Failure to thrive, Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Cryptor...	OMIM:609029
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Cryptorchidism	ORPHA:2701
Bresek Syndrome	Aganglionic megacolon, Cryptorchidism, Hydrocephalus, Cleft palate, Neonatal death, Decreased tes...	ORPHA:85284
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Atrial septal def...	OMIM:619356
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Cleft palate	ORPHA:398189
Developmental And Epileptic Encephalopathy 4	Cerebral hypomyelination, Delayed CNS myelination	OMIM:612164
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Pseudobulbar paralysis, Gliosis, Symmetric peripheral demyelination, Leukodystrophy	OMIM:169500
Lymphatic Malformation 7	Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia...	OMIM:617300
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Obesi...	OMIM:615873
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cryptorchidism, Partial ...	OMIM:615948
Frontotemporal Dementia With Motor Neuron Disease	Gliosis, Abnormal mitochondrial morphology, Dysphagia	ORPHA:275872
Thymic Carcinoma	Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy	ORPHA:99868
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Leukodystrophy, Hypertrophic cardio...	OMIM:619051
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Obesity, Cl...	ORPHA:177907
Atelis Syndrome 1	Atrial septal defect, Carious teeth, Ventricular septal defect, Bronchiectasis	OMIM:620184
Multifocal Atrial Tachycardia	Ventricular septal defect, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal defect, Hypertrop...	ORPHA:3282
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Patent...	ORPHA:1708
Mckusick-Kaufman Syndrome	Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic...	ORPHA:2473
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Int...	OMIM:243150
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Pulmonic stenosis	OMIM:620141
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu...	ORPHA:96147
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Pick Disease Of Brain	Gliosis	OMIM:172700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Delayed myelination, Lateral ventricle dilatation, High palate, Gliosi...	OMIM:300868
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de...	OMIM:614866
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Gastrointestinal Defects And Immunodeficiency Syndrome 2	CNS hypomyelination, Inflammation of the large intestine, Rectovaginal fistula, Leukodystrophy, D...	OMIM:619708
Potocki-Lupski Syndrome	Mandibular prognathia, Micrognathia, Dental malocclusion, Atrial septal defect, Patent foramen ovale	OMIM:610883
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Gliosis	OMIM:614498
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve	OMIM:617744
Metatropic Dysplasia	Hydrocephalus, Cleft palate	ORPHA:2635
Rhombencephalosynapsis	Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Fusion of th...	ORPHA:59315
20P12.3 Microdeletion Syndrome	Atrial septal defect, Hypoplasia of the maxilla, Malar flattening	ORPHA:261295
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Hydrocephalus, Esophageal varix, Inflammation of the large intestine, ...	OMIM:614576
Emanuel Syndrome	Failure to thrive, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, ...	ORPHA:96170
Orofaciodigital Syndrome V	Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ...	OMIM:174300
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis, Micrognathia	OMIM:605321
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Pleural effusion, Hypertrophic ...	OMIM:616897
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Leukodystrophy	OMIM:613163
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Hydrocephalus, Obesity	ORPHA:171839
Vitamin K Antagonist Embryofetopathy	Macroglossia, Hydrocephalus, Myelomeningocele	ORPHA:1914
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Lateral ven...	OMIM:263520
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Trisomy 13	Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,...	ORPHA:3378
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebral hypomyelination, Pseudobulbar paralysis	ORPHA:438114
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Micrognathia, Recurrent pneumonia, Bronchiectasis, Recurrent si...	OMIM:618282
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Micrognathia, Short thumb, Short 5th finger, Patent foramen ovale	OMIM:618821
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate, Obesity	ORPHA:2180
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Pyloric stenosis, High palate, Dandy-Walker malformation	OMIM:310400
Triploidy	Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, A...	ORPHA:3376
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:619909
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Failure to thrive, Delayed myelination, Ventriculomegaly	ORPHA:2169
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Sandhoff Disease	Macroglossia, Cardiomegaly, CNS hypomyelination	OMIM:268800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Respiratory failure, Patent foramen ovale, Hydronephrosis	OMIM:620327
Thanatophoric Dysplasia	Atrial septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Gliosis, Peripheral demyelination, Ventriculomegaly	OMIM:252160
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Pelizaeus-Merzbacher Disease In Female Carriers	CNS hypomyelination	ORPHA:280229
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, CNS hypomyelination	OMIM:618527
Multiple Sulfatase Deficiency	Hydrocephalus, CNS demyelination, Increased CSF protein concentration, Peripheral demyelination, ...	OMIM:272200
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ...	OMIM:615355
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age	OMIM:613330
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Leigh Syndrome	Ventricular septal defect, Gastrointestinal dysmotility, Abnormal thalamic MRI signal intensity, ...	ORPHA:506
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T...	OMIM:153400
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis	OMIM:618950
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:615668
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Decreased CSF albumin concentration, Delayed myelination, Decreased CS...	ORPHA:404454
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Gliosis, Ventriculomegaly	OMIM:618222
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Dilated cardiomyopathy, Gliosis, Ventriculomegaly	OMIM:618321
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Pulmonary...	OMIM:145420
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Neonatal respiratory distress, Secundum atrial septal defect, Patent ductus ar...	OMIM:616866
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Pneumonia, Respiratory tract infection, Atelect...	ORPHA:51636
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr...	ORPHA:96167
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal heart morphology	ORPHA:531151
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Atrial septal dilatation, High palate	OMIM:278250
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation	ORPHA:79332
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Apneic episodes in infancy	OMIM:301058
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation	OMIM:607361
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Spinocerebellar Ataxia 23	CNS demyelination, Agenesis of corpus callosum	OMIM:610245
Fucosidosis	Macroglossia, Failure to thrive, Cardiomegaly, CNS hypomyelination	OMIM:230000
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Asthma, Pulmonary arte...	OMIM:616777
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly	OMIM:619479
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis	ORPHA:163596
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, CNS hypomyelination	OMIM:619322
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis	OMIM:105550
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali...	ORPHA:1677
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Agenesis of cor...	OMIM:609053
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R...	ORPHA:97362
Peroxisomal Acyl-Coa Oxidase Deficiency	CNS demyelination, Leukodystrophy, Dysphagia	OMIM:264470
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Recurrent urinary tract infections, Renal insufficiency, Spontaneous pneumothora...	ORPHA:731
Wolfram Syndrome 1	Cardiomyopathy, Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P...	ORPHA:508488
Noonan Syndrome 10	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,...	OMIM:616564
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Neonatal respiratory distress, Ventricular septal defect, Micromelia, Patent d...	OMIM:618870
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia	OMIM:619699
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
D-Bifunctional Protein Deficiency	Cerebral dysmyelination, High palate, Gliosis, Failure to thrive, Ventriculomegaly	OMIM:261515
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate	ORPHA:513456
Trisomy 1Q	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft palate, Anal atresia, Agenesis of...	ORPHA:261344
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ...	ORPHA:500159
Hydrolethalus	Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Agenesis o...	ORPHA:2189
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, High palate, Cleft palate, CNS hypomyelination	OMIM:614230
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Polycystic kidney dysplasia	OMIM:616546
Distal Deletion 12Q	Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret...	ORPHA:96149
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Hydrocephalus, Pyloric...	ORPHA:93932
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Abruzzo-Erickson Syndrome	Atrial septal defect, Malar flattening, Short toe	ORPHA:921
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Abnorma...	OMIM:222470
Zechi-Ceide Syndrome	Mandibular prognathia, Short metatarsal, Abnormal heart morphology, Atrial septal defect, Short d...	ORPHA:217017
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Agenesis of corpus call...	ORPHA:459061
Coffin-Siris Syndrome 6	Atrial septal defect, Retrognathia, Micrognathia	OMIM:617808
Plasminogen Deficiency, Type I	Hydrocephalus, Duodenal ulcer, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Lujan-Fryns Syndrome	Atrial septal defect, Hypoplasia of the maxilla, Micrognathia	ORPHA:776
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosi...	OMIM:613001
Leukodystrophy, Childhood-Onset, Remitting	Leukodystrophy	OMIM:619864
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis, Short distal phalanx of finger	OMIM:611816
Congenital Heart Block	Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff...	ORPHA:60041
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Anomalous branches of internal carotid artery,...	ORPHA:363705
Meier-Gorlin Syndrome 7	Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D...	OMIM:617063
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive, High palate	OMIM:614098
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss...	ORPHA:1900
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Anteriorly placed anus, High palate, Cerebral hypomyelination, Bifid uvula	ORPHA:247262
Lymphatic Malformation 6	Splenomegaly, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylothorax, Atrial sept...	OMIM:616843
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Increased CSF protein concentration, Gliosis	OMIM:608033
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Netherton Syndrome	Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis	ORPHA:634
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal...	ORPHA:506358
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Familial Acute Necrotizing Encephalopathy	Increased CSF protein concentration, Abnormal thalamus morphology, Gliosis	ORPHA:88619
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Kleefstra Syndrome 1	Recurrent respiratory infections, Protruding tongue, Conotruncal defect, Macroglossia, Gastroesop...	OMIM:610253
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Micrognathia	OMIM:608572
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Pituitary go...	ORPHA:91348
Johnson Neuroectodermal Syndrome	Tetralogy of Fallot, Cleft palate	ORPHA:2316
Enlarged Parietal Foramina	Cleft palate, Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Leukodystrophy	OMIM:616538
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, High palate, Atrial septal...	OMIM:612582
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Polycystic kidney dysplas...	OMIM:311200
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, High palate, Gastroesophageal reflux, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Episodic tachypnea	OMIM:615160
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Respiratory fail...	ORPHA:445038
Axial Osteomalacia	Renal cyst	OMIM:109130
Tarp Syndrome	Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate...	OMIM:311900
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Dyspnea, Patent foramen ovale, Exertional dyspnea	OMIM:615156
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Crouzon Syndrome	Hydrocephalus, Narrow palate	ORPHA:207
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cleft palate, Anteri...	OMIM:146510
Melnick-Needles Syndrome	Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis, Respiratory insufficiency	ORPHA:2484
16P12.1P12.3 Triplication Syndrome	Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tricuspid valve m...	ORPHA:485405
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmoni...	ORPHA:435638
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Ventricular septal defect, Micrognathia, Hepatic melanin-like lysosomal pig...	OMIM:208085
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Delayed CNS myelination, Bicuspid aortic valve, Ventricular septal ...	OMIM:607872
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Delayed myelination, Cleft palate, Abnormal heart morpholog...	OMIM:239300
Aicardi-Goutieres Syndrome 6	Increased CSF interferon alpha, CSF pleocytosis, Leukodystrophy	OMIM:615010
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal atresia	OMIM:273395
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Peripheral demyelination, Ventriculomegaly	OMIM:252150
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm...	OMIM:611812
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper respiratory tract infections,...	OMIM:614868
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Arachnoiditis	Hydrocephalus	ORPHA:137817
Thrombocytopenia-Absent Radius Syndrome	Abnormal cardiac septum morphology, Thrombocytopenia, Tetralogy of Fallot, Cleft palate	ORPHA:3320
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Respiratory insufficiency, ...	ORPHA:912
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Hepatic failure, Cholestasis, Coarctati...	OMIM:118450
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Congenital Disorder Of Glycosylation, Type Iim	Delayed CNS myelination, Lateral ventricle dilatation, High palate, Gastroesophageal reflux, Atri...	OMIM:300896
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Dyspnea, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Short ribs, Atrial sep...	ORPHA:2519
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Combined Saposin Deficiency	CNS demyelination	OMIM:611721
Kabuki Syndrome 1	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption, Cryptorchidism, ...	OMIM:147920
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc...	ORPHA:79404
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med...	ORPHA:97289
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Griscelli Syndrome	Encephalocele, Pyloric stenosis, Hydrocephalus	ORPHA:381
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Anal stenosis, Abnormal heart morphology	OMIM:601499
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Desmosterolosis	Intestinal malrotation, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmonary venous re...	ORPHA:35107
Metachromatic Leukodystrophy Due To Saposin B Deficiency	CNS demyelination, Increased CSF protein concentration, Peripheral demyelination, Dysphagia	OMIM:249900
Ivic Syndrome	Intestinal malrotation, Thrombocytopenia, Patent ductus arteriosus, Leukocytosis, Rectovaginal fi...	OMIM:147750
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Toriello-Carey Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p...	ORPHA:3338
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte...	OMIM:616449
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort...	ORPHA:96334
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Muenke Syndrome	High, narrow palate, Hydrocephalus	ORPHA:53271
Tay-Sachs Disease	Gliosis, Abnormal thalamic MRI signal intensity, Ventriculomegaly, Dysphagia	ORPHA:845
Lowry-Maclean Syndrome	Bilateral cryptorchidism, High, narrow palate, Hydrocephalus, Pyloric stenosis, Midgut malrotatio...	ORPHA:2409
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo...	OMIM:620025
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Decreased response to growth hormone stimulation test, Colpocephaly, Mit...	OMIM:617260
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A...	ORPHA:227990
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Micromelia	ORPHA:1035
Genitopatellar Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Apnea, Hydronephrosis	ORPHA:85201
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis, Absent thumb	OMIM:619239
Coffin-Siris Syndrome 5	Atrial septal defect, Short distal phalanx of finger	OMIM:616938
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Micrognathia, Descending thoracic aorta aneurysm, Pat...	OMIM:609192
Alg8-Cdg	Abnormality of the gastrointestinal tract, Small for gestational age, Macroglossia, Leukodystroph...	ORPHA:79325
Intellectual Disability, Buenos-Aires Type	Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:3079
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Abnormal CNS myelination, Failure to thrive	ORPHA:477673
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Patent foramen ovale, Hydronephrosis	OMIM:619179
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Hypoplasia of the maxilla, Malar flattening, Micrognathia	ORPHA:79113
Desmosterolosis	Hydrocephalus, Partial agenesis of the corpus callosum, Cleft palate, Total anomalous pulmonary v...	OMIM:602398
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus, Wei...	OMIM:619377
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Gastroesophageal reflux, Dy...	ORPHA:494344
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial...	OMIM:257300
Mitochondrial Complex I Deficiency, Nuclear Type 21	Leukodystrophy, Increased CSF lactate	OMIM:618242
Walker-Warburg Syndrome	Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformati...	ORPHA:899
Wiedemann-Rautenstrauch Syndrome	Slender build, Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephal...	ORPHA:3455
Zaki Syndrome	Renal agenesis, Patent foramen ovale, Hydronephrosis	OMIM:619648
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Patent foramen ovale, Hypoplasia of teeth	ORPHA:88630
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A...	ORPHA:227982
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Agenesis of corpus callosum	ORPHA:220497
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Carious teeth, Coarctation of aorta, Aortic r...	OMIM:617602
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Tracheomalacia	ORPHA:896
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati...	OMIM:243800
Mitochondrial Complex I Deficiency, Nuclear Type 5	Failure to thrive, Dysphagia, Leukodystrophy, Increased CSF lactate	OMIM:618226
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal cardiac septum morphology, Ves...	ORPHA:96169
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Dextrocardia, Aplasia/Hypoplasia of the sternum, Missing ribs, S...	ORPHA:2911
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Gorlin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:377
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Dandy-Walker ...	OMIM:614424
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Esophagitis, CNS hypomyelination	OMIM:615356
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Cerebral hypomyelination	ORPHA:457351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Micrognathia, Cholestasis, Reduc...	ORPHA:52
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Ventriculomegaly, Leukodystrophy	ORPHA:431361
Proteus-Like Syndrome	Venous insufficiency, Bronchogenic cyst, Thymus hyperplasia, Splenomegaly	ORPHA:2969
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Tetralogy of Fallot,...	ORPHA:2919
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Megalencephaly	Atrial septal defect	ORPHA:2477
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anal atresia	OMIM:617244
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated car...	OMIM:610198
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Renal cyst	OMIM:614862
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Micrognathia, Small hand, Short foot, Short finger, Atrial septal defe...	OMIM:270450
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Hydrocephalus, High palate, Dandy-Walker malformation, Ventriculomegaly	OMIM:617822
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Left ventricular hypertrophy, Hypopitui...	ORPHA:90065
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs	ORPHA:96190
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Patent ductus arteriosus, Short toe, Aortic root aneurysm, Atrial septal d...	ORPHA:404443
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Acute lymphobla...	ORPHA:1052
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Stevenson-Carey Syndrome	Atrial septal defect, Central hypoventilation, Left superior vena cava draining to coronary sinus	OMIM:611961
Tenorio Syndrome	Macroglossia, Hydrocephalus, Gastroesophageal reflux, Ventriculomegaly	OMIM:616260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ...	ORPHA:2072
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirth, Agenesis of cor...	OMIM:243605
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, CNS demyelination	OMIM:618193
Thanatophoric Dysplasia Type 1	Short femur, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/Hypoplasia ...	ORPHA:1860
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Recurrent lower respiratory tract infections, Hyperplasia of the m...	OMIM:620194
Leukodystrophy, Hypomyelinating, 16	Delayed CNS myelination, Failure to thrive, Leukodystrophy	OMIM:617964
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:616854
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Ventricular septal defect, Episodic tachypnea, Pneumonia, Per...	ORPHA:26793
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, High palate, Dys...	ORPHA:261250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Mandibular prognathia	OMIM:619721
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
Neurodegeneration With Brain Iron Accumulation 2A	Gliosis	OMIM:256600
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Asthma, Patent ductus arteriosus, Recurrent upper respirato...	ORPHA:293939
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Cachexia, Malabsorption, Myocarditis, Hydrocephalus	ORPHA:3452
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, ...	OMIM:620113
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Respiratory insufficiency, Renal cyst	ORPHA:2031
Tarp Syndrome	Extramedullary hematopoiesis, Cleft palate, Tongue nodules, Glossoptosis, Pulmonary hypoplasia, A...	ORPHA:2886
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Cleft palate	ORPHA:2075
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Abnormal pericardium morphology, Dyspnea, Abnormal aortic valve mor...	ORPHA:35687
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Congenital Disorder Of Deglycosylation 1	Delayed CNS myelination, Oral-pharyngeal dysphagia, Decreased CSF albumin concentration, Delayed ...	OMIM:615273
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral hypomyelination, Dysphagia	ORPHA:496641
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Mitral ...	OMIM:121050
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Left superior vena cava draining to coronary sinus, Limb undergrowth, Comm...	OMIM:619143
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia	ORPHA:93259
Pelizaeus-Merzbacher Disease, Classic Form	Cerebral hypomyelination	ORPHA:280219
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Micrognathia	OMIM:614526
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Delayed CNS myelination, Small for gestational age, Gastroesophageal reflux, Leukodystrophy, Dysp...	OMIM:615471
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Recurrent respiratory infections, Absence of the pulmonary valve, Ventricu...	OMIM:601808
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypopl...	OMIM:100300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Truncal obesity, Gliosis, Ventriculomegaly	OMIM:301072
Clapo Syndrome	Lymphangioma, Varicose veins, Venous malformation	ORPHA:168984
Scalp-Ear-Nipple Syndrome	Cardiac myxoma, Lateral ventricle dilatation, Bifid uvula	OMIM:181270
Hamamy Syndrome	Microcytic anemia, Complete atrioventricular canal defect, High palate, Hypochromic anemia, Atria...	OMIM:611174
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Pyloric stenosis, Pulmo...	OMIM:235730
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Apert Syndrome	Esophageal atresia, Hydrocephalus, Narrow palate, Cleft palate, Ectopic anus, Agenesis of corpus ...	ORPHA:87
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesic...	OMIM:300707
Combined Oxidative Phosphorylation Deficiency 13	Leukodystrophy, Increased CSF lactate	OMIM:614932
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, Short thumb, Abnormality of frontal sinus, Atrial septal defect, Peripheral pulmona...	ORPHA:436003
Musculocontractural Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Functional abnormality of the bladder, Pneumothorax, Nephrolithi...	ORPHA:2953
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl...	OMIM:607323
Constricting Bands, Congenital	Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Retrogna...	OMIM:617061
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Cardiomyopathy, Familial Hypertrophic, 11	Dyspnea, Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaort...	OMIM:612098
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Atrial septal defect, Failure to thrive in infancy, Submucous cleft soft palate, Dysplastic corpu...	ORPHA:500150
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Rhizomelia, Micrognathia, Abnormal lung lobation, Coarctation of aorta...	OMIM:614114
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti...	OMIM:135500
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Elevat...	OMIM:619525
Kabuki Syndrome 2	Natal tooth, Micrognathia, Dental malocclusion, Coarctation of aorta, Short 5th finger, Pulmonic ...	OMIM:300867
47,Xyy Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Oligozoospermia, Azoospe...	ORPHA:8
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Agenesis of corpus callosum, Ventriculo...	OMIM:613150
Isolated Sedoheptulokinase Deficiency	Abnormal CNS myelination, Ventriculomegaly, Steatorrhea	ORPHA:440713
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Restrictive cardiom...	OMIM:615398
Mogs-Cdg	Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Cardiomegaly, Retrognathia, Hepatospl...	ORPHA:79330
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Micromelia, Patent ductu...	ORPHA:2637
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Pulmonary fibrosis	OMIM:611926
Cystic Echinococcosis	Asthma, Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Hepatic cysts	ORPHA:400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Small for gestational age, Cryptorchidism, Coronary artery fistula, Ne...	OMIM:620024
Pontocerebellar Hypoplasia, Type 2A	Gliosis, Dysphagia	OMIM:277470
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly	OMIM:614969
Limb Body Wall Complex	Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn...	ORPHA:2369
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Acute respiratory distress syndrome, Portal hypertension, Mic...	OMIM:620005
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Mandibular prognathia, Pulmonic stenosis	OMIM:611553
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flatte...	OMIM:610536
Neonatal Lupus Erythematosus	Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology	ORPHA:398124
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Patent foramen...	OMIM:251290
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur...	OMIM:309520
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anal atresia	ORPHA:3301
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, High palate	ORPHA:476126
Shashi-Pena Syndrome	Short metacarpal, Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Atrial septal defec...	OMIM:617190
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation	OMIM:612918
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Atrial septal defect, Hyper...	OMIM:619383
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Small for gestational age, Partial agenesis of the corpus ...	OMIM:220111
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mannosidosis, Alpha B, Lysosomal	Macroglossia, Delayed myelination, Gliosis	OMIM:248500
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis, Mitral valve prolapse	OMIM:104350
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Micrognathia, Atr...	OMIM:619720
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	High palate, Hydrocephalus, Delayed CNS myelination	OMIM:618590
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pul...	OMIM:618454
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Icf Syndrome	Communicating hydrocephalus, Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Schilder Disease	CNS demyelination, Increased CSF protein concentration, CSF pleocytosis	ORPHA:59298
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Neurodegeneration With Brain Iron Accumulation 7	Leukodystrophy, Dysphagia	OMIM:617916
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Hydrocephalus, Demyelinating peripheral neuropathy	ORPHA:220295
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Failure to thrive	OMIM:259700
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:2318
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Limb undergrowth, Atrial septal defect, Recurrent lower respiratory tra...	OMIM:618005
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
17Q23.1Q23.2 Microdeletion Syndrome	Dyspnea, Patent ductus arteriosus, Patellar hypoplasia, Pulmonary arterial hypertension, Atrial s...	ORPHA:261279
Craniofacial Microsomia 1	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Right ao...	OMIM:164210
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate	ORPHA:2736
Doors Syndrome	Narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Aspiration pneumonia, Thromboc...	ORPHA:79500
Mitochondrial Complex I Deficiency, Nuclear Type 4	Leukodystrophy, Increased CSF lactate	OMIM:618225
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453499
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Rhizomelia, Patent ductus arteriosus, Hypoplasi...	OMIM:607143
Floating-Harbor Syndrome	Celiac disease, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left superior ...	OMIM:136140
Leukodystrophy, Hypomyelinating, 17	Leukodystrophy	OMIM:618006
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Hypoplasia of the maxilla, Asthma, Patent ductus arteriosus aft...	ORPHA:251061
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate	OMIM:616294
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Atrial septal defect, Shor...	OMIM:220500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral...	OMIM:614080
Tetrasomy 5P	Hydrocephalus, Failure to thrive, High palate	ORPHA:3309
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology	ORPHA:1865
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Delayed CNS myelination, Cleft palate, Leukodystrophy	OMIM:620269
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Patent ductus...	OMIM:617303
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, High palate, Failure to thrive	OMIM:608091
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Bdv Syndrome	Atrial septal defect, Micrognathia	OMIM:619326
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff...	OMIM:608022
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonic stenosis, Hy...	OMIM:616737
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Retrognathia, Ventricular septal defect	OMIM:617452
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V...	ORPHA:1225
Congenital Sialidosis Type 2	Hydrocephalus, Protruding tongue, Abnormal heart morphology	ORPHA:93400
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resis...	ORPHA:99104
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Albuminuria, Aminoaciduria...	OMIM:214100
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:395
Opitz-Kaveggia Syndrome	Anal stenosis, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Partial agenesis of the cor...	OMIM:305450
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Rabin-Pappas Syndrome	Hydrocephalus, Failure to thrive in infancy, Obesity	OMIM:620155
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Protruding tongue, Dilated cardiomyopathy...	ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de...	OMIM:300998
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia	OMIM:619314
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Aplasia/Hypoplasia of th...	ORPHA:84
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Maxillozygomati...	ORPHA:1790
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Opitz Gbbb Syndrome	Natal tooth, Ventricular septal defect, Tracheomalacia, Micrognathia, Patent ductus arteriosus, A...	ORPHA:2745
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Agenesis of corpus callosum, B...	OMIM:123790
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis	OMIM:231005
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Atrial septal d...	OMIM:300963
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ...	ORPHA:542643
Meige Disease	Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Varicose Veins	Varicose veins	OMIM:192200
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,...	OMIM:614643
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Cleft palate	OMIM:224400
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Par...	OMIM:610828
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Craniopharyngioma	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi...	ORPHA:54595
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia	ORPHA:2839
Leukodystrophy, Hypomyelinating, 3	Sudanophilic leukodystrophy, Failure to thrive, Leukodystrophy	OMIM:260600
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ...	OMIM:619167
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Tracheobronchomalacia, Short palm, Atrial septal defect, Enamel hypoplasia, Pat...	OMIM:619184
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Cryptorchidism, Hydrocephalus	OMIM:619951
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Alazami Syndrome	Atrial septal defect, Malar flattening	ORPHA:319671
Chromosome 17P13.1 Deletion Syndrome	Delayed CNS myelination, Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High...	OMIM:613776
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Retrognathia, Ventricular septal defect	ORPHA:505237
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Renal dysplasia, Hydronephrosis, Respiratory distress	OMIM:300968
Alg9-Cdg	Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, Ureteral hypoplasia, Pericar...	ORPHA:79328
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Patent foramen ovale, ...	OMIM:618460
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Frontometaphyseal Dysplasia 1	Hydroureter, Cor pulmonale, Mitral valve prolapse, Stridor, Hydronephrosis	OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity, Leukodystrophy, Left ventricular hypertrophy, Hypertrophi...	ORPHA:444013
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus...	ORPHA:1606
Progressive Supranuclear Palsy	Gliosis, Dysphagia	ORPHA:683
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Hurler Syndrome	Hydrocephalus, Macroglossia, Cardiomyopathy, Abnormal CNS myelination, Endocardial fibroelastosis	OMIM:607014
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Wiedemann-Steiner Syndrome	Micrognathia, Patent ductus arteriosus, Short toe, Small hand, Short middle phalanx of finger, Sh...	OMIM:605130
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	CNS demyelination, Delayed CNS myelination, Partial agenesis of the corpus callosum	OMIM:619653
Mucopolysaccharidosis, Type Ii	Macroglossia, Intestinal pseudo-obstruction, Hydrocephalus, Abnormal heart valve morphology	OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Micrognathia, Mitral valve prolapse	OMIM:300986
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven...	ORPHA:1855
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia...	ORPHA:18
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Splenomegaly, Patent ...	OMIM:269860
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Abnormal CNS myelination, High palate, Increased CSF lactate	OMIM:619053
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:613603
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Hydrocephalus, Gastroesophageal reflux	OMIM:616482
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Patent ductus arteriosus, Asthma, Mesomelia, Atrial septal defect,...	OMIM:618162
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Delayed CNS myelination, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of ...	OMIM:619512
Igg4-Related Kidney Disease	Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina...	ORPHA:449395
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop...	ORPHA:3412
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele, Cle...	OMIM:130720
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Malar flattening, Patent ductus arteriosus	OMIM:602482
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitra...	OMIM:617660
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:235255
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Vesicourete...	OMIM:610443
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa...	OMIM:616914
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus	ORPHA:1555
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal card...	ORPHA:2166
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp...	ORPHA:217085
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Micrognathia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary ...	OMIM:613177
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Hydrocephalu...	OMIM:300373
Peroxisome Biogenesis Disorder 8B	Failure to thrive, Peripheral demyelination, Leukodystrophy, Dysphagia	OMIM:614877
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Crouzon Syndrome	Hydrocephalus, High palate	OMIM:123500
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Holoprosencephaly, At...	OMIM:147791
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of a...	OMIM:617088
Allan-Herndon-Dudley Syndrome	Delayed CNS myelination, Leukodystrophy	OMIM:300523
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Aicardi-Goutieres Syndrome 5	Leukodystrophy, CSF lymphocytic pleiocytosis	OMIM:612952
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Failure to thrive in ...	ORPHA:1340
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Bohring-Opitz Syndrome	Neonatal respiratory distress, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, M...	OMIM:605039
Granulomatosis With Polyangiitis	Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency, Proteinuria, Sinusitis, Epi...	ORPHA:900
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Dyspnea, Mitral valve prolapse, Aortic root aneurysm, Atrial sep...	ORPHA:230851
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464311
Endocrine-Cerebroosteodysplasia	Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Median cleft palat...	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Cleft palate, Anal ...	OMIM:236670
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Ventriculomegaly, Leukodystrophy	ORPHA:370997
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:154230
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate	ORPHA:2720
Fetal Alcohol Syndrome	Atrial septal defect, Micrognathia	ORPHA:1915
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ...	OMIM:274000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Neonatal asphyxia, Hypoplasia of teeth	ORPHA:2728
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Dpagt1-Cdg	Failure to thrive, CNS hypomyelination	ORPHA:86309
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micropenis, Abnormal renal morphology, Ventricular septal defect, Hydronephrosis	ORPHA:1655
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph...	ORPHA:276280
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp...	ORPHA:217093
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus	ORPHA:65285
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Horseshoe kidn...	ORPHA:2092
Fanconi Anemia, Complementation Group L	Delayed CNS myelination, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft pala...	OMIM:614083
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Hydrocephalus, Myelomeningocele, Cleft palate, Gl...	ORPHA:90652
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula	ORPHA:268249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Delayed CNS myelination	OMIM:616084
Hengel-Maroofian-Schols Syndrome	Abnormal CNS myelination, Bicuspid aortic valve	OMIM:619641
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Dyspnea, Emphysema, Pneumothorax, Chylopericardium, Hemat...	ORPHA:538
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Malar flatte...	OMIM:616364
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Cardiomegaly, Micrognathi...	OMIM:245600
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pulmonary arterial hyperten...	ORPHA:314585
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus, Micrognathia	ORPHA:363528
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Alexander Disease	Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia, Failure to thrive, Agenesis of corpus...	ORPHA:58
Kaposiform Lymphangiomatosis	Epistaxis, Pericardial effusion, Pancreatic cysts, Dyspnea, Multiple renal cysts, Cough, Pleural ...	ORPHA:464329
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Respiratory insufficiency	OMIM:618975
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus, High palate	OMIM:620351
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete...	ORPHA:280633
8P11.2 Deletion Syndrome	Micrognathia, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse, Atrial septal defect	ORPHA:251066
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,...	ORPHA:97214
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail...	ORPHA:3404
Noonan Syndrome 13	Atrial septal defect, Micrognathia, Mitral valve prolapse	OMIM:619087
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia	ORPHA:25
Mohr Syndrome	Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue	OMIM:252100
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Malabsorption, Hydrocephalus, Abnormal aortic valve morphology, ...	ORPHA:579
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Campomelic Dysplasia	Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Respiratory insufficiency	ORPHA:140
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Shortening of all distal phalanges of the fingers, Peripheral pulmonary art...	OMIM:614749
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v...	OMIM:617107
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Hereditary Late-Onset Parkinson Disease	Gliosis, Dysphagia, Weight loss	ORPHA:411602
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464306
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Xeroderma Pigmentosum, Complementation Group B	Abnormal CNS myelination, Ventriculomegaly	OMIM:610651
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Severe demyelination of the white matter, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart m...	ORPHA:79282
Holoprosencephaly	Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m...	ORPHA:2162
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology, Abnormal c...	ORPHA:217260
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Dyspnea, Renal cyst, Cough, Abnormal bladder m...	ORPHA:284
Cerebrotendinous Xanthomatosis	Myelopathy, Hypermyelinated retinal nerve fibers, Abnormal atrial septum morphology, Gliosis, CNS...	ORPHA:909
Fanconi Anemia, Complementation Group D2	Small for gestational age, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal f...	OMIM:227646
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, Atrial ...	OMIM:603467
19P13.12 Microdeletion Syndrome	Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Short palm	ORPHA:254346
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Small h...	OMIM:610759
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Leukodystrophy	OMIM:618688
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, High, narrow palate, Mitral valve prolapse, Abnormal...	ORPHA:2462
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun...	OMIM:236680
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Al Kaissi Syndrome	Atrial septal defect, Small hand	OMIM:617694
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Pyloric steno...	OMIM:602535
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Mend Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve...	ORPHA:401973
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, Pulmonic stenos...	OMIM:115150
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Recurrent respiratory infections, Retrognathia, Short foot	OMIM:619758
Leopard Syndrome 1	Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S...	OMIM:151100
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Malar flattening, Abnormal mitral valve morphology, Short distal phalanx of...	ORPHA:1292
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation...	OMIM:605627
Kaufman Oculocerebrofacial Syndrome	Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Carious teeth, Coarctatio...	OMIM:244450
Kapur-Toriello Syndrome	Atrial septal defect, Short thumb, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus	OMIM:207410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Abnormal heart ...	ORPHA:505248
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Monosomy 9Q22.3	Hydrocephalus, Cardiac fibroma, Ventriculomegaly, Large for gestational age	ORPHA:77301
Monosomy 13Q34	Epistaxis, Micrognathia, Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Micrognathia	OMIM:609625
Robinow Syndrome	Ventricular septal defect, Micrognathia, Persistence of primary teeth, Missing ribs, Mesomelic ar...	ORPHA:97360
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Delayed myelination, Decreased thalamic volume, Hypoglycorrhachia	ORPHA:168577
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Late-Infantile/Juvenile Krabbe Disease	Neuromuscular dysphagia, Abnormal CNS myelination, Increased CSF protein concentration	ORPHA:206443
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Coffin-Siris Syndrome	Delayed eruption of teeth, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, R...	ORPHA:1465
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma...	OMIM:615287
Trisomy 8P	Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Neph...	ORPHA:264450
Renal Nutcracker Syndrome	Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery	ORPHA:71273
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Enuresis, Atri...	ORPHA:96121
Cranioectodermal Dysplasia 2	Hepatomegaly, Rhizomelia, Cholangitis, Micrognathia, Splenomegaly, Patent ductus arteriosus, Recu...	OMIM:613610
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Delayed CNS myelination, Gliosis, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:124000
Lethal Kniest-Like Dysplasia	Atrial septal defect, Short ribs, Hypoplastic vertebral bodies, Mesomelic/rhizomelic limb shortening	ORPHA:2347
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Gliosis	ORPHA:3240
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Aicardi-Goutieres Syndrome 1	Multiple gastric polyps, Increased CSF interferon alpha, CSF lymphocytic pleiocytosis, Chronic CS...	OMIM:225750
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis, Congenital megaureter, A...	ORPHA:369837
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Cleft p...	ORPHA:93924
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Short ribs, Atrial septal defect, Common atrium	OMIM:225500
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Cardiomyopathy, Nephrotic syndrome, ...	OMIM:212065
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Pulmonary artery stenosis, Fi...	OMIM:258315
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cryptorchidism, Colpocephaly, High palate, Gastroesophageal reflux, Failure to thrive	OMIM:620083
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronephrosis	OMIM:618653
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Stillbirth, Ventriculomegaly	OMIM:259720
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Increased CSF glycine concentration, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Leukody...	OMIM:614299
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Failure to thrive, Agenesis...	ORPHA:137675
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Mucopolysaccharidosis, Type Vii	Macroglossia, Cardiomyopathy, Hydrocephalus, Abnormal heart valve morphology	OMIM:253220
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Hydronephrosis, Mitral valve prolapse	ORPHA:444072
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Short palm, Atrial septal defect, Ma...	ORPHA:261330
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Small for gestational age, Decreased growth hormone responses to g...	OMIM:101800
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Medulloblastoma	Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art...	OMIM:615474
Waardenburg Syndrome, Type 2E	Cerebral hypomyelination	OMIM:611584
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Hydronephrosis	ORPHA:254528
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Menkes Disease	Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial...	ORPHA:565
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly	ORPHA:397709
Parkinson Disease 1, Autosomal Dominant	Gliosis, Dysphagia	OMIM:168601
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Hurler Syndrome	Abnormal heart valve morphology, Hydrocephalus, Macroglossia, Cardiomyopathy, Endocardial fibroel...	ORPHA:93473
Full Nf2-Related Schwannomatosis	Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma, Dysphagia	ORPHA:637
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Leukodystrophy	OMIM:277580
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Holopro...	OMIM:618820
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ...	OMIM:109400
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Fryns Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Renal cyst, Chyloth...	OMIM:229850
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,...	ORPHA:881
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Aspiration, Multiple renal cysts, Respiratory dis...	OMIM:618733
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Increased CSF protein concentration, Gliosis, Astrocytosis	OMIM:203700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig...	OMIM:182212
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Transient ischemic attack, Patent ductus arteriosus, Coarctatio...	OMIM:600268
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Achalasia, Decreased response to growth hormone stimulation test	OMIM:616007
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Lymphatic Malformation 13	Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen o...	OMIM:620244
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Neoplasm of the liver	ORPHA:1454
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Small hand, Fibular hypoplasia, Short foot, Short ribs, Short p...	OMIM:228520
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Hydroce...	OMIM:270400
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Pneumothorax, Ascending tubular aorta aneurysm, Atrial septal defect, Hy...	OMIM:617403
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Abnormal cardiac septum morphology, Hydronephrosis, Unilateral renal agenesis, Single ventricle	OMIM:308050
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Oligomeganephronia	Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia	ORPHA:2260
Mend Syndrome	Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Failure to thrive, Dandy-Walke...	OMIM:300960
Cockayne Syndrome	Cachexia, Cerebral dysmyelination, Cryptorchidism, Gastroesophageal reflux, Gliosis, Patchy demye...	ORPHA:191
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Aplastic clavicle, Short thumb, Abnormality of the spleen, Abnormal lung lobation, ...	ORPHA:2538
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Denta...	OMIM:616894
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation	ORPHA:722
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Leukodystrophy	ORPHA:401866
Distal Deletion 6P	Micrognathia, Short foot, Short palm, Atrial septal defect, Malar flattening	ORPHA:96125
H Syndrome	Azoospermia, Hydrocephalus, Decreased testicular size, Malabsorption	ORPHA:168569
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Absent thumb, Shor...	OMIM:105650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Respirato...	OMIM:208500
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Neonatal respiratory distress, Ventricular sep...	OMIM:117650
Trisomy 18	Atrial septal defect, Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary...	ORPHA:3380
Multiple Sclerosis, Susceptibility To	CNS demyelination	OMIM:126200
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363958
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Cerebral hypomyelination, Gastroesophageal reflux, Dysphagia	ORPHA:447997
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation	OMIM:213300
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Failure to thrive	OMIM:277400
Myhre Syndrome	Mandibular prognathia, Ventricular septal defect, Pericardial effusion, Hypoplasia of the maxilla...	OMIM:139210
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Moderate albuminuria, Hydronephrosis	OMIM:619269
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus, Carious teeth, Respiratory distress	ORPHA:1051
Sturge-Weber Syndrome	Hydrocephalus, Dysphagia	ORPHA:3205
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Abnormal renal mo...	OMIM:122470
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Leukodystrophy	OMIM:619224
Raine Syndrome	Protruding tongue, Hydrocephalus, Cleft palate, High palate, Neonatal death	OMIM:259775
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:373
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplasia of the ulna, Short metacarpal, Micrognathia, Aplasia/hypoplasia of the humerus, Short ...	OMIM:609945
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis	ORPHA:847
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Mucopolysaccharidosis Type 3	Cardiomegaly, Malabsorption, Hydrocephalus, Macroglossia, Abnormal aortic valve morphology, Dysph...	ORPHA:581
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Cleft palate, Ventriculomegaly	ORPHA:1272
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Colpocephaly, Patent foramen ovale, Delayed myelination	ORPHA:477993
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormality of the temporomandibular joint, Abnormal heart valve morpholog...	ORPHA:536471
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic ...	OMIM:610505
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia...	OMIM:600373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:352665
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Melnick-Needles Syndrome	Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi...	OMIM:309350
Sjogren-Larsson Syndrome	CNS demyelination	OMIM:270200
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Neurofibromatosis, Type I	Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Optic nerve glioma	OMIM:162200
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Short phalanx of the 5th toe...	OMIM:614609
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate	OMIM:260660
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d...	OMIM:610188
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Dubowitz Syndrome	Anal stenosis, Malabsorption, Cryptorchidism, Hydrocephalus, Rectal prolapse, Submucous cleft har...	ORPHA:235
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Retrognathia, Short middle phalanx of finge...	OMIM:301030
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hypospadias, Long penis, Horseshoe kidney, Polycystic kidney dysplasia...	OMIM:268300
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Gastroesophageal reflux, Ventriculomegaly	OMIM:618188
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Abnormal heart morphology, Total anomalous pulmonary veno...	ORPHA:487796
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Cardiac rhabdomyoma	OMIM:191100
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Patent ductus arterios...	ORPHA:3047
Costello Syndrome	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Mitral valve prolapse, Macroglossia, ...	OMIM:218040
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly, Large for gestational age	OMIM:617011
Marchiafava-Bignami Disease	CNS demyelination, Increased CSF protein concentration	ORPHA:221074
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnorm...	ORPHA:363700
Schinzel-Giedion Syndrome	Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi...	ORPHA:798
Joubert Syndrome 21	Apnea, Dyspnea, Renal cyst, Respiratory failure, Hyperechogenic kidneys, Chronic sinusitis	OMIM:615636
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Tracheomalacia, Short metatarsal, Atrial septal defe...	OMIM:150250
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Short sternum, Short ribs, Atrial septal defect, Short tibia, Short 1st metacarpal,...	OMIM:620076
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Hydronephrosis	OMIM:257920
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Liver Disease, Severe Congenital	Cardiomegaly, Micrognathia, Biliary hyperplasia, Cough, Atrial septal defect, Elevated hepatic ir...	OMIM:619991
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Abetalipoproteinemia	CNS demyelination, Fat malabsorption, Peripheral demyelination	OMIM:200100
Leukodystrophy, Hypomyelinating, 4	Leukodystrophy	OMIM:612233
Achondroplasia	Hydrocephalus	OMIM:100800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Ileal Neuroendocrine Tumor	Hydronephrosis, Tricuspid stenosis, Pulmonic stenosis	ORPHA:100078
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef...	ORPHA:2729
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypoplastic left heart, Aortic valve ste...	ORPHA:2308
Leukodystrophy, Hypomyelinating, 13	Delayed CNS myelination, Failure to thrive, Leukodystrophy	OMIM:616881
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,...	ORPHA:2556
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Ventricular septal defect, Overweight, High, narrow palate, Hydrocephalus,...	OMIM:619475
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Immunodeficiency 23	Abnormal CNS myelination, Failure to thrive, High palate, Esophageal stricture	OMIM:615816
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation...	ORPHA:438213
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Tracheoma...	ORPHA:1393
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Asthma, Stridor, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:616973
Canavan Disease	CNS demyelination, Increased CSF N-acetylaspartic acid concentration	OMIM:271900
Occipital Horn Syndrome	Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Abnormal esophagus...	ORPHA:198
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormal heart morphology	ORPHA:137667
2Q37 Microdeletion Syndrome	Tracheomalacia, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Prominent superficial veins, Hypoplasia of the maxilla, Pneumothorax, Mitr...	OMIM:617402
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Abnormal heart morpholog...	OMIM:114290
Mucopolysaccharidosis, Type Vi	Hydrocephalus, Macroglossia, Cardiomyopathy, Cervical myelopathy, Mitral stenosis	OMIM:253200
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Fontaine Progeroid Syndrome	Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, ...	OMIM:612289
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology	ORPHA:1826
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Atrial septal defect, Micropenis, Hydronephrosis	OMIM:269150
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Cleft palate, Aortic valve sten...	ORPHA:955
Arboleda-Tham Syndrome	Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Ventricu...	OMIM:616268
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Hydronephrosis	OMIM:251260
6Q Terminal Deletion Syndrome	High, narrow palate, Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Velopharyng...	OMIM:154400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Hydrocephalus, Abdominal obesity, Decreased testicular...	OMIM:619321
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Asthma, Small hand, Fibular hy...	ORPHA:444077
De Sanctis-Cacchione Syndrome	Decreased CSF 5-hydroxyindolacetic acid concentration, Bilateral cryptorchidism, Ventriculomegaly...	OMIM:278800
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Mesomelia, Patent foramen ovale	OMIM:613457
Degcags Syndrome	Micrognathia, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Short thumb, Patent ductu...	OMIM:619488
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Short foot, Short palm, Atrial septal defect	ORPHA:251014
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft palate, Stil...	OMIM:208150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Recurrent upper respiratory tract infections, Bronchiecta...	ORPHA:391487
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Macroglossia, High palate, Tricuspid va...	ORPHA:261337
Secondary Syringomyelia	CNS demyelination, Pseudobulbar paralysis, Increased CSF protein concentration, CSF pleocytosis	ORPHA:99857
Leukodystrophy, Hypomyelinating, 9	Pseudobulbar paralysis, Leukodystrophy	OMIM:616140
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Cockayne Syndrome A	Failure to thrive, Abnormal peripheral myelination, Cryptorchidism, Normal pressure hydrocephalus...	OMIM:216400
Turnpenny-Fry Syndrome	Mandibular prognathia, Recurrent respiratory infections, Patent ductus arteriosus, Dental maloccl...	OMIM:618371
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect, Shortening of all distal phalanges of the fingers	OMIM:614207
Cockayne Syndrome B	Failure to thrive, Small for gestational age, Abnormal peripheral myelination, Cryptorchidism, No...	OMIM:133540
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis	ORPHA:1896
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Small for gestational age, Cryptorchidism, Hydrocephalus, Malrotation ...	OMIM:194190
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Pulmonary arterial hype...	ORPHA:2785
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Coarct...	ORPHA:124
Coccidioidomycosis	Pericarditis, Abnormal sperm morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocyt...	ORPHA:228123
Gaucher Disease	Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor...	ORPHA:355
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Recurrent sinusitis, Atrial se...	OMIM:213980
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Pyruvate Carboxylase Deficiency	Leukodystrophy	OMIM:266150
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Abnormal mi...	ORPHA:576
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Hydrocephalus, High, narrow palate, Submucous cleft hard palate, Cleft palate, Ag...	ORPHA:2658
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Small for gestational age, Crypt...	OMIM:107480
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Large for gestational age, High palate, Slender build, Ventriculomegaly	ORPHA:457359
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tracheobro...	OMIM:613458
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd...	ORPHA:261323
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal ...	OMIM:601776
Noonan Syndrome 1	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Coarctati...	OMIM:163950
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, High palate, Mitral valve prolapse	ORPHA:536467
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Hydrocephalus, High, narrow palat...	ORPHA:95699
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Rabson-Mendenhall Syndrome	Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Advanced ...	ORPHA:769
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Respiratory insufficiency, Renal hypoplasia, Renal cyst	OMIM:616300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Short toe, Micrognathia	OMIM:620072
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Jaundice, Dilated cardiomyopathy, Cholestasis, Biventricular hypertrophy, Pleural e...	OMIM:619573
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Vici Syndrome	Recurrent respiratory infections, Micrognathia, Dilated cardiomyopathy, Cardiomyopathy, Atrial se...	OMIM:242840
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short metacarpal, Short fourth metatarsal, Patent ductus arteriosus, Short femoral neck, Short pa...	ORPHA:457395
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Bardet-Biedl Syndrome 20	Atrial septal defect, Asthma, Pancreatitis	OMIM:619471
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Cleft palate, High palate, Failure to thrive	ORPHA:1106
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, CNS demyelination, Diffuse demyelination of the cerebral white matter, Dysphagia	ORPHA:139396
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Acute Disseminated Encephalomyelitis	CNS demyelination, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity, C...	ORPHA:83597
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Recurrent respiratory infections, Micrognathia, Carious teeth, Prolonged neonatal ja...	OMIM:620186
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Recurrent respiratory infections, Small hand, Short foot	ORPHA:398069
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hypertension, Prolonged neonat...	ORPHA:363611
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Bicusp...	ORPHA:709
Juvenile Polyposis Of Infancy	Atrial septal defect, Midclavicular hypoplasia, Patent ductus arteriosus, Abnormal heart morphology	ORPHA:79076
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm	OMIM:618891
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Ventricular septal defect, Pulmonary artery stenosis, D...	ORPHA:459070
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis, Dysphagia	OMIM:601104
Hemophagocytic Lymphohistiocytosis, Familial, 2	CNS demyelination, Failure to thrive, Increased CSF protein concentration, CSF pleocytosis	OMIM:603553
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Adult Krabbe Disease	CNS demyelination, Increased CSF protein concentration, Peripheral demyelination	ORPHA:206448
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Faciocardiomelic Syndrome	Hyperplasia of the maxilla, Common atrium, Dental malocclusion, Micrognathia	OMIM:612731
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Hypoplasia of the maxill...	OMIM:617140
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Renal cyst, Vesicoureteral reflux, Patent foramen ovale	OMIM:616975
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat...	ORPHA:2636
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Small for gestational age, Hydrocephalus...	ORPHA:666
Cryptococcosis	Hydrocephalus	ORPHA:1546
Oculodentodigital Dysplasia	Carious teeth, Taurodontia, Atrial septal defect, Enamel hypoplasia, Short middle phalanx of the ...	OMIM:164200
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Hydrocephalus, Myelomeningoce...	OMIM:219000
Genitopatellar Syndrome	Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ...	OMIM:606170
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction	OMIM:304150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Short femur, Micrognathia, Patent ductus arteriosus, Patent foramen ovale	OMIM:300990
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Patent ductus arteriosus, Temporomandibular joint ankylosis, Short cla...	OMIM:275210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi...	OMIM:271640
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Leukodystrophy	OMIM:614462
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Secundum atrial septal defect, Sudanophilic leukodystrophy, Hydrocepha...	OMIM:264090
Aicardi-Goutières Syndrome	Ventriculomegaly, Cardiomegaly, Chronic CSF lymphocytosis, Increased CSF interferon alpha, Leukod...	ORPHA:51
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Baller-Gerold Syndrome	Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed anus, Perineal fistula,...	OMIM:218600
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Partial anomalous pulmonary venous return, Small hand, Short foot, Atr...	OMIM:301044
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy, Failure to thrive, Leukodystrophy, Increased CSF lactate	ORPHA:2609
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Apnea, Pancreatic aplasia	OMIM:609069
Combined Oxidative Phosphorylation Deficiency 4	Leukodystrophy	OMIM:610678
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect, Central apnea, Hyperventilation	ORPHA:522077
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Supranuclear Palsy, Progressive, 2	Gliosis, Dysphagia	OMIM:609454
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Renal hypoplasia, Atrial sep...	OMIM:135900
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph...	ORPHA:322
Frontometaphyseal Dysplasia 2	Short metacarpal, Bicuspid aortic valve, Patent ductus arteriosus, Short metatarsal, Stridor, Pul...	OMIM:617137
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Abnormal pulmonary valve morphology	ORPHA:667
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Leukodystrophy, Progressive, Early Childhood-Onset	Leukodystrophy	OMIM:617762
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short metacarpal, Rhizomelia, Myocarditis, Short toe, Short ribs, Short finger,...	OMIM:250220
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie...	ORPHA:93271
Neurofibromatosis Type 1	Neoplasm of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Astrocytoma	ORPHA:636
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Abnormality of...	ORPHA:821
Otopalatodigital Syndrome, Type Ii	Short metacarpal, Short hallux, Micrognathia, Short thumb, Short metatarsal, Respiratory insuffic...	OMIM:304120
Hypermobile Ehlers-Danlos Syndrome	Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t...	ORPHA:285
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macroglossia, Recurrent gastroenteritis	ORPHA:309282
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Bartsocas-Papas Syndrome 1	Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short thumb, Abs...	OMIM:263650
Focal Dermal Hypoplasia	Intestinal malrotation, Hiatus hernia, Cryptorchidism, Hydrocephalus, Myelomeningocele, Cleft pal...	OMIM:305600
Bickerstaff Brainstem Encephalitis	CSF pleocytosis, Abnormal thalamic MRI signal intensity, Acute demyelinating polyneuropathy, Recu...	ORPHA:79138
Coffin-Siris Syndrome 12	Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Tetral...	OMIM:619325
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Asthma, Recurrent pneumonia, Ventricular septal defect, Hydronephrosis	OMIM:620330
Peters-Plus Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft palate, Anteriorly placed anus, P...	OMIM:261540
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney, Abnormal heart morphology	ORPHA:171929
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Hydronephrosis, Cardiomyopathy, Atrial sept...	ORPHA:480880
Spondylocarpotarsal Synostosis Syndrome	Restrictive ventilatory defect, Renal cyst	OMIM:272460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Failure to thrive in infancy, Leukodystrophy	ORPHA:79124
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Glycogen Storage Disease Ii	Macroglossia, Abnormal CNS myelination, Cardiomegaly	OMIM:232300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Increased CSF lactate, Leukodystrophy, Hypertrophic cardi...	OMIM:252010
Peroxisome Biogenesis Disorder 6B	Leukodystrophy	OMIM:614871
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Anterior pituitary hypoplasia, Cryptorchidism, Mild fetal ventriculo...	OMIM:619841
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Congenital m...	ORPHA:116
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination	ORPHA:221091
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lun...	ORPHA:672
Metachromatic Leukodystrophy, Late Infantile Form	Increased CSF protein concentration, Leukodystrophy	ORPHA:309256
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Micrognathia, Short femoral neck, Macrovesicular hepati...	OMIM:619127
Metachromatic Leukodystrophy, Juvenile Form	Increased CSF protein concentration, Leukodystrophy	ORPHA:309263
Metachromatic Leukodystrophy, Adult Form	Increased CSF protein concentration, Leukodystrophy, Neoplasm of the gallbladder	ORPHA:309271
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Pleural effusion, Chylothorax	ORPHA:2526
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract	ORPHA:2273
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Leukodystrophy	OMIM:612199
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale, Micrognathia	OMIM:613884
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Yunis-Varon Syndrome	Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, Patent foramen ovale, Absent...	OMIM:216340
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Malar flattening, Pulmonic stenosis	OMIM:601321
Acute Transverse Myelitis	CSF pleocytosis, Paralytic ileus, Hypoglycorrhachia, CNS demyelination, Increased CSF protein con...	ORPHA:139417
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi...	OMIM:613355
Cornelia De Lange Syndrome	Delayed eruption of teeth, Ventricular septal defect, Micromelia, Micrognathia, Small hand, Short...	ORPHA:199
Diphallia	Atrial septal defect, Absent thumb, Abnormal heart morphology	ORPHA:227
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Pallister-Killian Syndrome	11 pairs of ribs, Delayed eruption of teeth, Ventricular septal defect, Rhizomelia, Mesomelic/rhi...	OMIM:601803
Niemann-Pick Disease Type C	Demyelinating peripheral neuropathy, Abnormal CNS myelination, Leukodystrophy, Dysphagia	ORPHA:646
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Renal cyst, Pulmonary embolism	ORPHA:744
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Atrial sept...	OMIM:308205
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Secundum atrial septal defect, Subarterial ventricular septal defect, Recur...	ORPHA:99646
Norrie Disease	Venous insufficiency	ORPHA:649
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Pmm2-Cdg	Respiratory distress, Pericarditis, Proteinuria, Pericardial effusion, Nephrotic syndrome, Multip...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccdc39

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccdc39.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.	Development (Cambridge, England) (January 2018)	Ccdc39^{tm1a(KOMP)Wtsi}	29317443

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MGI Allele	Allele Type	Produced
Ccdc39^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ccdc39^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ccdc39^{tm2b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ccdc39 MGI:1289263

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Human diseases caused by Ccdc39 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data