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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

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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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood	0.0%
bone marrow	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cecum	5.73% (22 of 384)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
chest bone	Unavailable
colon	15.71% (22 of 140)
diaphragm	0.0%
duodenum	3.57% (5 of 140)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland	0.71% (1 of 140)
heart	0.33% (2 of 598)
hindlimb	0.0%
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
ileum	14.29% (20 of 140)
jejunum	8.57% (12 of 140)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node	0.31% (1 of 323)
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
stomach pyloric region	0.0%
striatum	0.5% (3 of 598)
sublingual gland	0.0%
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
tongue	3.57% (5 of 140)
trachea	0.5% (3 of 598)
trigeminal v nerve	0.0%
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vagina	0.0%
vas deferens	4.56% (18 of 395)
vascular system	0.0%
vesicular gland	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Ccdc39 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ccdc39 (2 diseases)
Human diseases predicted to be associated with Ccdc39 (1945 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		Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal...	OMIM:613807
Primary Ciliary Dyskinesia		Double outlet right ventricle, Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia...	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	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre...	OMIM:614779
Heterotaxy, Visceral, 2, Autosomal	Double outlet right ventricle, Asplenia, Atrioventricular canal defect, Left atrial isomerism, Bi...	OMIM:605376
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr...	OMIM:208530
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Dextrocardia, Cough, Abd...	OMIM:619607
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis	OMIM:614844
Ciliary Dyskinesia, Primary, 7	Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil...	OMIM:611884
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Neonat...	OMIM:608644
Ciliary Dyskinesia, Primary, 23	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:615451
Heterotaxy, Visceral, 4, Autosomal	Midline liver, Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposi...	OMIM:613751
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo...	ORPHA:1209
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,...	OMIM:616749
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon...	OMIM:615481
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615504
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Chronic bronchitis, Respiratory...	OMIM:614874
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615505
Ciliary Dyskinesia, Primary, 36, X-Linked	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,...	OMIM:300991
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Cough,...	OMIM:614679
Ciliary Dyskinesia, Primary, 25	Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Recurrent sinu...	OMIM:615482
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi...	OMIM:616037
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca...	OMIM:619657
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the...	OMIM:231060
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615500
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu...	OMIM:270100
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit...	OMIM:306955
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal...	OMIM:613807
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic sinusitis, Chronic pulmonar...	OMIM:616481
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Situs inversus to...	OMIM:614017
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, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Situs inversus totalis...	OMIM:613193
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Dextrocardia, Cough,...	OMIM:618254
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic...	OMIM:618063
Nephronophthisis 16	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio...	OMIM:615382
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi...	OMIM:612444
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal...	OMIM:619702
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic...	OMIM:617092
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Rhinorrhea, Right aortic ...	OMIM:617577
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615444
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle	ORPHA:66630
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn...	ORPHA:860
Primary Ciliary Dyskinesia	Double outlet right ventricle, Asplenia, Respiratory tract infection, Bronchiectasis, Polysplenia...	ORPHA:244
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a...	OMIM:613854
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis	OMIM:612518
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Productive cough, Recurrent lower respiratory tract infections, Chronic sinusitis...	OMIM:618699
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Laterality Defects, Autosomal Dominant	Asplenia, Heterotaxy, Situs inversus totalis	OMIM:601086
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans...	ORPHA:261243
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Situs inversus totalis, Sinusitis, Dextroca...	OMIM:606763
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Abnormal lung lobation, Malformation of the hepat...	OMIM:615415
Ciliary Dyskinesia, Primary, 19	Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ...	OMIM:614935
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, C...	OMIM:612650
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Ciliary Dyskinesia, Primary, 5	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:608647
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis	OMIM:620032
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Ciliary Dyskinesia, Primary, 15	Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Situs inversus totali...	OMIM:613808
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Asplenia, Absent gallbladder, Atrioventricular canal defect, Pulmonary ...	ORPHA:210122
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti...	OMIM:617610
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
Bardet-Biedl Syndrome 8	Hypospadias, Situs inversus totalis, Renal dysplasia	OMIM:615985
Hypoglossia With Situs Inversus	Asplenia, High palate, Polysplenia, Situs inversus totalis, Microglossia	OMIM:612776
Meacham Syndrome	Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,...	ORPHA:3097
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Isomerism, Esophageal atresia, Anal atresia, Pulmonary hypoplasia,...	OMIM:314390
Nephronophthisis 2	Respiratory insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Chronic tubulointerst...	OMIM:602088
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic...	ORPHA:1727
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, High palate, Atrial septal defect, Tetra...	ORPHA:3304
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Pulmonary hypoplasia, Hepa...	OMIM:208540
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid...	OMIM:601927
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition ...	ORPHA:1913
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ve...	ORPHA:3384
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k...	OMIM:617805
Meacham Syndrome	Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal...	OMIM:608978
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Decreased nasal nitric oxide, Polysplenia, Chronic sinusit...	OMIM:619608
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Dextrocardia	Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Abnor...	ORPHA:1666
Diabetic Embryopathy	Abnormal aortic morphology, Abnormality of the pancreas, Ventricular septal defect, Abnormality o...	ORPHA:1926
Scimitar Syndrome	Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out...	ORPHA:185
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,...	OMIM:620056
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Mandibular prognathia, Mitral valve prolapse, Situs inversus totalis, Persi...	OMIM:609008
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Decreased body weight, Ventriculomegaly, Delayed CN...	OMIM:617800
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Structural Heart Defects And Renal Anomalies Syndrome	Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Per...	OMIM:617478
Cardiofacioneurodevelopmental Syndrome	Asplenia, Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Abdominal situs...	OMIM:619123
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu...	ORPHA:99050
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Holoprosencephaly 5	High palate, Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosence...	OMIM:609637
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ...	OMIM:618845
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen...	OMIM:601331
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v...	ORPHA:477817
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Ventricular sep...	OMIM:613759
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ...	OMIM:613095
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit...	OMIM:244400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Atrioventricular canal defect, Pulmonary artery dilatation, Pleural effusion, Pulmonary...	OMIM:265380
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Bilateral lung agenesis,...	OMIM:601186
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Band Heterotopia	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Agnathia-Otocephaly Complex	Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Respiratory distress, Pulmonary ...	OMIM:202650
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra...	OMIM:619910
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Achalasia, Ventricular septal defect, Congenital lobar overinflation, Pe...	OMIM:600987
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy	OMIM:249270
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
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Heart Defects, Congenital, And Other Congenital Anomalies	Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent fora...	OMIM:600001
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Indomethacin Embryofetopathy	Respiratory insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal rena...	ORPHA:1909
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar...	OMIM:618280
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,...	ORPHA:1461
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return	OMIM:106700
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Chudley-Mccullough Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum	OMIM:604213
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Colonic Atresia	Abdominal situs inversus, Abnormality of mesentery morphology	ORPHA:1198
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Ventricular septal defect, Narrow palate, High palate, Macroglossia, Pu...	OMIM:617022
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent pneumonia, Reduced ...	OMIM:619436
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Velopharyngeal insufficiency, Submucous cleft...	OMIM:192430
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:620135
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Dextrocardia, High palate, Anal atresia	ORPHA:2863
Congenital Primary Megaureter	Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,...	ORPHA:617
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Pulmonic stenosis, Hydronephrosis	OMIM:264140
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Primary Pulmonary Hypoplasia	Patellar hypoplasia, Pneumothorax, Abnormal breath sound, Asthma, Micrognathia, Secundum atrial s...	ORPHA:2257
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Anal atresia, Atrial septal defect, Hyp...	OMIM:220210
Nephronophthisis 20	Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff...	OMIM:617271
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Ventricular septal defect, Micrognathia, ...	ORPHA:1908
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries, Macroglossia	OMIM:616789
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Anemia, Perimembranous ventricular septal defect, Cholestasis, Hepatome...	OMIM:608104
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, V...	ORPHA:79243
Feingold Syndrome 1	Patent ductus arteriosus, Asplenia, High palate, Ventricular septal defect, Jejunal atresia, Esop...	OMIM:164280
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Transient ischemic attack, Pericardi...	OMIM:115197
Congenital Tracheomalacia	Patent ductus arteriosus, Gastroesophageal reflux, Cardiomegaly, Pneumothorax, Ventricular septal...	ORPHA:95430
Heart And Brain Malformation Syndrome	Gastroesophageal reflux, Interrupted aortic arch, High, narrow palate, Ventricular septal defect	OMIM:616920
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Mosaic Trisomy 9	Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, High palate, Ventricular septal de...	ORPHA:99776
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect	OMIM:619170
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent ductus arteriosus, Pancreatic hypoplasia, Biliary atresia, Patent foramen ovale, Congenita...	ORPHA:2255
Pierre Robin Syndrome	Cor pulmonale, Micrognathia, Upper airway obstruction, Neonatal respiratory distress	OMIM:261800
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ...	ORPHA:99125
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency, Mitral valve prolapse	OMIM:173900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Gastroesophageal r...	OMIM:618316
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Dextrocardia, Hepatomegaly, Abnormal tricuspid valve m...	ORPHA:1759
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus...	OMIM:612649
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo...	ORPHA:216694
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Transposition of the great arteries, Pulmonic stenosis, Perimembranous ventricular s...	OMIM:617877
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,...	ORPHA:251071
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Spondylocostal Dysostosis 4, Autosomal Recessive	Unilateral vertebral artery hypoplasia, Aplasia of posterior communicating artery, Missing ribs, ...	OMIM:613686
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate...	OMIM:618061
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal...	OMIM:179613
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis	OMIM:615872
Orofaciodigital Syndrome Xvii	Decreased body weight, Ventriculomegaly, CNS hypomyelination, Tetralogy of Fallot, High, narrow p...	OMIM:617926
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:617616
Martsolf Syndrome 2	Decreased body weight, Lateral ventricle dilatation	OMIM:619420
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, D...	OMIM:617296
Pontocerebellar Hypoplasia, Type 1A	Demyelinating peripheral neuropathy, Basal ganglia gliosis, Lateral ventricle dilatation, Dysphagia	OMIM:607596
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Subependymal cysts, CNS hypomyelination, Decreased CSF glutamine co...	OMIM:610015
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Alg2-Cdg	Cerebral hypomyelination, Lateral ventricle dilatation	ORPHA:79326
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Lateral ventricle dilatation	OMIM:616816
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Gastroesophageal reflux, High palate, Pericardial effusion, Aortic aneurysm, Atrial septal defect...	OMIM:620070
Distal Trisomy 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Meckel Syndrome, Type 7	Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Atrial septal defect, Hepatospleno...	OMIM:267010
Feingold Syndrome Type 1	Patent ductus arteriosus, Jejunal atresia, Gastrointestinal atresia, Esophageal atresia, Interrup...	ORPHA:391641
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function, Ventricular septal defect	ORPHA:306550
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Hypoplastic spleen, Atrial septal defect, Dysphagia	ORPHA:89844
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left...	ORPHA:2248
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr...	OMIM:212093
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Transposition of th...	OMIM:313850
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Conotruncal defect, Bicuspid aortic valve, Lym...	ORPHA:2306
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Perimembranous ventricular septal defect, Velopharyngeal insufficiency,...	ORPHA:363444
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, High, narrow pa...	OMIM:619575
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Delayed CNS myelination, Lateral ventricle dilatation	OMIM:617668
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Mandibular aplasia, Respiratory distress	ORPHA:990
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Familial Visceral Myopathy	Micrognathia, Abdominal situs inversus	ORPHA:2604
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low...	OMIM:616726
Bardet-Biedl Syndrome 19	Ventricular septal defect, Atrial septal defect, Hypoplastic left heart, Renal hypoplasia, Renal ...	OMIM:615996
Cardiomyopathy, Dilated, 1S	Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t...	OMIM:613426
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Renal cyst, Polyuria, Dextrocardia, Situs inversus totalis, Micro...	OMIM:615994
Ciliary Dyskinesia, Primary, 6	Abnormal ciliary motility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia	OMIM:610852
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Congenital Gerbode Defect	Vascular dilatation, Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricula...	ORPHA:99095
Microphthalmia-Brain Atrophy Syndrome	Diffuse demyelination of the cerebral white matter, Lateral ventricle dilatation	ORPHA:77299
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	High palate, Ventriculomegaly, CNS hypomyelination	OMIM:615760
Ververi-Brady Syndrome	High palate, Transposition of the great arteries	OMIM:617982
Thakker-Donnai Syndrome	Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Rectovag...	ORPHA:1780
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn...	ORPHA:3400
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Respiratory failure, ...	OMIM:253300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Peripheral demyelination, Lateral ventricle dilatation, Gliosis	OMIM:221770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss	Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
Sweeney-Cox Syndrome	Patent ductus arteriosus, Asplenia, Gastroesophageal reflux, Patent foramen ovale, High palate, V...	OMIM:617746
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Cardiomyopathy, Dilated, 2D	Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular...	OMIM:619371
Hypoplastic Left Heart Syndrome 1	Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
White Forelock With Malformations	Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:277740
Congenital Neuronal Ceroid Lipofuscinosis	Ventriculomegaly, Diffuse demyelination of the cerebral white matter, Gliosis, Abnormal astrocyte...	ORPHA:168486
Carpenter Syndrome 1	Patent ductus arteriosus, High palate, Ventricular septal defect, Polysplenia, Atrial septal defe...	OMIM:201000
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Atrial Septal Defect 4	Patent foramen ovale, Atrial septal defect, Coarctation of aorta	OMIM:611363
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Progressive Non-Infectious Anterior Vertebral Fusion	Micrognathia, Abdominal situs inversus	ORPHA:2062
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation	OMIM:618330
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Hypoplastic spleen, Stroke-like episode, Thrombocytopenia,...	OMIM:185070
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A...	OMIM:614980
Aortic Arch Interruption	Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor...	ORPHA:2299
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal...	OMIM:614954
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart	ORPHA:3316
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot	ORPHA:217
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Bronchiectasis, Chronic rhinitis	OMIM:618801
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Interrupted aortic arch,...	OMIM:300712
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Hydrocephalus	ORPHA:26
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Delayed CNS myelination, Lateral ventricle dilatation	OMIM:619517
Ciliary Dyskinesia With Defective Radial Spokes	Immotile cilia, Abnormal respiratory system physiology, Chronic rhinitis, Sinusitis, Ciliary dysk...	OMIM:242670
Hallermann-Streiff Syndrome	Respiratory insufficiency, Small hand, Natal tooth, Short ribs, Micrognathia, Supernumerary tooth...	ORPHA:2108
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
1Q21.1 Microduplication Syndrome	Gastroesophageal reflux, Hydrocephalus, Failure to thrive, Tetralogy of Fallot	ORPHA:250994
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Anemia, Ventricular septal defect, Abnormal tricuspid valve morpholog...	ORPHA:3405
Lissencephaly 8	Occipital encephalocele, Cerebral hypomyelination, Ventriculomegaly	OMIM:617255
Bardet-Biedl Syndrome 16	Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Respiratory distress, Renal cyst...	OMIM:615993
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:1354
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, High palate, Lateral ventricle dilatation, Dilated third ventricle	OMIM:619244
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Transaldolase Deficiency	Cirrhosis, Anemia, Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular ...	ORPHA:101028
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Diencephalic Syndrome	Cachexia, Decreased body weight, Hydrocephalus	ORPHA:1672
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Cleft...	ORPHA:1166
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Hepatic failure, Elevated hepatic transa...	OMIM:614886
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep...	ORPHA:99094
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Delayed myelination, Ventriculomegaly, CNS hypomyelination	OMIM:618367
Developmental And Epileptic Encephalopathy 66	Anemia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia	OMIM:618067
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
16P13.2 Microdeletion Syndrome	Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly, Hydrocephalus, Failure to thr...	ORPHA:500055
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Delayed CNS myelination, Lateral ventricle dilatation, Cardiomyopathy	OMIM:600721
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Delayed myelination, Failure to thrive in infancy, Lateral ventricle dilatation	ORPHA:284417
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia...	ORPHA:980
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Anter...	OMIM:309801
Maternal Phenylketonuria	Double outlet right ventricle, High palate, Ventricular septal defect, Esophageal atresia, Coarct...	ORPHA:2209
Phenobarbital Embryopathy	Tetralogy of Fallot, Abnormal mitral valve morphology	ORPHA:1919
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Subvalvular aortic stenosis, Hamartoma of tongue, Complete atrioventricular canal defect, Coarcta...	OMIM:217085
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio...	OMIM:601612
Lissencephaly 4	Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Gaucher Disease, Type Ii	Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Double aortic arch, Hepatomegaly...	OMIM:230900
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:147770
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, High palate, Ventricular septal defect, Bicu...	OMIM:616652
8P23.1 Duplication Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:251076
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep...	OMIM:615297
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, High palate, Perimembranous ventricular septal defect	OMIM:618804
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Delayed CNS myelination	OMIM:619725
Hyperparathyroidism 2 With Jaw Tumors	Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno...	OMIM:145001
Wolcott-Rallison Syndrome	Double outlet right ventricle, Abnormality of the liver, Lymphocytosis, Jaundice, Elevated hepati...	ORPHA:1667
You-Hoover-Fong Syndrome	Double aortic arch, Cleft palate, Vascular ring, Coarctation of aorta	OMIM:616954
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypop...	ORPHA:2326
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Delayed CNS myelination, Hydrocephalus, Agenesis of corp...	OMIM:619302
Mungan Syndrome	Hypoperistalsis, Perimembranous ventricular septal defect, Megaduodenum, Pulmonic stenosis, Intes...	OMIM:611376
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Anal atresia, Atrial septal defect, Coarctation of aorta, Median cleft...	OMIM:264480
Sotos Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Narrow palate, Ventricular septal defect, High...	OMIM:117550
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Anemia, Ventricular septal defect, Interrupted aort...	ORPHA:163979
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Polysplen...	OMIM:614294
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, High palate, Coarctation of aorta	OMIM:618929
Multiple Mitochondrial Dysfunctions Syndrome 5	Leukodystrophy, Delayed myelination, Ventriculomegaly	OMIM:617613
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Muscular ventricular septal defect, High palate, Atrial septal defect	OMIM:618354
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Anal atresia, Atrial septal defe...	OMIM:612946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Snijders Blok-Campeau Syndrome	High palate, Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect	OMIM:618205
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p...	OMIM:614034
Igg4-Related Aortitis	Hypereosinophilia, Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, D...	ORPHA:449400
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:249670
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
Intellectual Developmental Disorder, Autosomal Dominant 56	Gastroesophageal reflux, Delayed myelination, High palate, Lateral ventricle dilatation, Delayed ...	OMIM:617854
Short Rib-Polydactyly Syndrome	Hepatic fibrosis, Abnormality of the liver, Gastrointestinal atresia, Intestinal malrotation, Sit...	ORPHA:1505
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:618736
Glutaric Acidemia I	Delayed myelination, Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, Symmetrical ...	OMIM:231670
Urofacial Syndrome 2	Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency...	OMIM:615112
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614432
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Abnormal lung lobation...	ORPHA:2516
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, Interrupted aortic arch,...	ORPHA:17
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Anemia, Megaloblastic anemia, High palate, Glossitis, Pancytopenia, Atr...	OMIM:277380
Congenital Hydrocephalus	Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Cystic Hamartoma Of Lung And Kidney	Respiratory insufficiency, Multicystic kidney dysplasia	ORPHA:2111
Noonan Syndrome 12	Ventricular septal defect, Lymphopenia, Anteriorly placed anus, Thrombocytopenia, Tetralogy of Fa...	OMIM:618624
Hinman Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone...	ORPHA:84085
Pontocerebellar Hypoplasia, Type 13	High palate, Lateral ventricle dilatation, Volvulus, Failure to thrive, Dandy-Walker malformation	OMIM:618606
Familial Aortic Dissection	Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De...	ORPHA:229
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly, Lateral ventricl...	ORPHA:397715
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis	ORPHA:3033
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia	OMIM:215520
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Abnormality of the gallbladder, Micrognathia, Aplasia/Hypopla...	ORPHA:280
Leukodystrophy, Hypomyelinating, 11	Failure to thrive, Leukodystrophy, CNS hypomyelination	OMIM:616494
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Large for gestational age, Celiac disease,...	ORPHA:544488
Frontal Encephalocele	Spina bifida, Leukodystrophy, Hydrocephalus, Encephalocele	ORPHA:1931
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Acute lymphoblastic leukemia, Peripheral pulmonary artery stenosis, Cl...	OMIM:280000
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Abnormal cardiac septum morphology, Interrupted aortic arc...	ORPHA:250989
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Perimembranous v...	OMIM:158170
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:300573
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,...	ORPHA:261183
Retinitis Pigmentosa 6	Immotile cilia	OMIM:312612
Hemimegalencephaly	Ventriculomegaly, Gliosis	ORPHA:99802
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Catel-Manzke Syndrome	High palate, Ventricular septal defect, Bifid uvula, Coarctation of aorta, Dextrocardia, Cleft pa...	OMIM:616145
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro...	ORPHA:371428
Down Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo...	OMIM:190685
Alg3-Cdg	High palate, Abnormal uvula morphology, Abnormality of the gastrointestinal tract, Macroglossia, ...	ORPHA:79321
Adams-Oliver Syndrome 6	Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Portal hyperte...	OMIM:616589
Aortic Aneurysm, Familial Thoracic 4	Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce...	OMIM:132900
Cerebrooculofacioskeletal Syndrome 1	Delayed myelination, Ventriculomegaly, Small for gestational age, CNS demyelination, Failure to t...	OMIM:214150
Poland Syndrome	Dextrocardia	OMIM:173800
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Bronchitis, Ventricular septal defect, Pneumonia,...	OMIM:601005
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Lateral ventricle dilatation, Right ventricular dilatation, Mitral valve prolapse, H...	OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, Transposition of the great art...	OMIM:253800
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Leukopenia, Ventricular septal defect, Elevated hepatic transamina...	OMIM:301056
Cach Syndrome	T2 hypointense thalamus, Dysmyelinating leukodystrophy, Lateral ventricle dilatation, Dysphagia	ORPHA:135
Developmental And Epileptic Encephalopathy 36	Delayed CNS myelination, Hydrocephalus	OMIM:300884
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap...	OMIM:612561
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Malar flatt...	ORPHA:52056
Meckel Syndrome, Type 1	Patent ductus arteriosus, Asplenia, Lobulated tongue, Vascular dilatation, Abnormal cardiac septu...	OMIM:249000
Craniosynostosis 6	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:616602
Fryns Syndrome	Gastroesophageal reflux, Abnormal aortic morphology, High palate, Ectopic anus, Abnormal cardiac ...	ORPHA:2059
S-Adenosylhomocysteine Hydrolase Deficiency	Delayed myelination, Ventriculomegaly, Hepatocellular carcinoma, Failure to thrive, CNS hypomyeli...	ORPHA:88618
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect	OMIM:300887
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Ventricular septal defect, Delayed eruption of teeth, Aplasia/Hypo...	ORPHA:289
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation	OMIM:619278
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
X-Linked Intellectual Disability, Wilson Type	Delayed myelination, Lateral ventricle dilatation	ORPHA:85290
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Small for gest...	ORPHA:3078
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Joubert Syndrome	Aganglionic megacolon, Situs inversus totalis, Encephalocele, Hydrocephalus	ORPHA:475
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:214400
Dysmyelination With Jaundice	Hydroureter, Hypoplasia of penis, Hydronephrosis	OMIM:224250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Cleft palate, Lateral ventricle dilatation	OMIM:615716
Developmental And Epileptic Encephalopathy 86	Small for gestational age, CNS hypomyelination	OMIM:618910
Digeorge Syndrome	Hypoplasia of the thymus, Truncus arteriosus, Bifid uvula, Recurrent sinusitis, Hepatic steatosis...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Perimembran...	OMIM:608779
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy...	OMIM:618164
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Pulmonary sequ...	ORPHA:2847
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla...	OMIM:263200
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:614120
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology	OMIM:608776
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Delayed CNS myelination, Gliosis, Agenesis of corpus callosum	OMIM:615095
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig...	ORPHA:439
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Delayed CNS myelination, Hydrocephalus, Bicuspid aortic valve	OMIM:615599
Combined Oxidative Phosphorylation Deficiency 24	Increased CSF lactate, Agenesis of corpus callosum, Gliosis, CNS hypomyelination	OMIM:616239
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly	OMIM:614870
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Dandy-W...	OMIM:304050
Apert Syndrome	Narrow palate, Ventricular septal defect, Ectopic anus, Esophageal atresia, Pyloric stenosis, Bif...	OMIM:101200
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Delayed CNS myelination, High palate, Lateral ventricle dilatation	OMIM:614105
Joubert Syndrome 39	Hypopnea, Polycystic kidney dysplasia, Hypoplastic left heart	OMIM:619562
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst	OMIM:138790
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot	OMIM:613630
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:96092
Bilateral Generalized Polymicrogyria	Gastroesophageal reflux, Lateral ventricle dilatation, Oral-pharyngeal dysphagia	ORPHA:208447
Pelizaeus-Merzbacher disease	Leukodystrophy, Abnormal CNS myelination	DECIPHER:38
Pyruvate Carboxylase Deficiency	Delayed myelination, Basal ganglia gliosis, Ventriculomegaly, Increased CSF lactate, Cerebellar g...	ORPHA:3008
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Lissencephaly, X-Linked, 2	High palate, Ventriculomegaly, Agenesis of corpus callosum, Gliosis	OMIM:300215
Joubert Syndrome 3	Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Giant Cell Arteritis	Abdominal aortic aneurysm, Hepatic failure, Abnormal pleura morphology, Recurrent pharyngitis, Gl...	ORPHA:397
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Dyspnea	OMIM:174050
Alg12-Cdg	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, B lymphocytopenia, Eleva...	ORPHA:79324
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Failure to thrive, Cerebral hypomyelination, CNS hypomyelination	ORPHA:369939
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, Atrial septal d...	ORPHA:464738
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Aganglionic megacolon, Hydrocephalus	OMIM:304100
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Gliosis, Lateral ventricle dilatation, Dysphagia	OMIM:619847
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ...	OMIM:236730
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
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Leukoencephalopathy With Vanishing White Matter 1	Cerebral hypomyelination, CNS demyelination, Gliosis	OMIM:603896
Biemond Syndrome Type 2	Obesity, Hydrocephalus	ORPHA:141333
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Delayed CNS myelination, Failure to thrive, CNS hypomyelination	OMIM:616577
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Gliosis	OMIM:213200
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage...	OMIM:191800
Alexander Disease	Hydrocephalus, Diffuse demyelination of the cerebral white matter, Increased CSF protein concentr...	OMIM:203450
Johanson-Blizzard Syndrome	Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Malabsorption, Anal atre...	ORPHA:2315
Fried Syndrome	Hydrocephalus, High palate	ORPHA:85335
Slc35A2-Cdg	Gastroesophageal reflux, Delayed myelination, Elevated circulating thyroid-stimulating hormone co...	ORPHA:356961
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Encephalocraniocutaneous Lipomatosis	Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta, Aortic valve stenosis,...	ORPHA:2396
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Anal atresia	ORPHA:1381
Catel-Manzke Syndrome	Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect	ORPHA:1388
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ...	ORPHA:1923
Marden-Walker Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Renal dysplasia, Renal hypoplasia/aplasi...	ORPHA:2461
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated hepatic transaminase, ...	ORPHA:66634
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Decreased liver functi...	OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dil...	OMIM:617751
Meckel Syndrome	Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Pancreatic ...	ORPHA:564
Renpenning Syndrome	Malar flattening, Heterotaxy, Mandibular prognathia	ORPHA:3242
Leukodystrophy, Hypomyelinating, 15	Failure to thrive, Leukodystrophy, CNS hypomyelination, Dysphagia	OMIM:617951
Pelizaeus-Merzbacher Disease	Sudanophilic leukodystrophy, Abnormal CNS myelination, Cerebral dysmyelination, Failure to thrive...	OMIM:312080
Adducted Thumbs Syndrome	Myelin-dependent gliosis, High palate, Velopharyngeal insufficiency, Cerebral dysmyelination, Dys...	OMIM:201550
Mirage Syndrome	Patent ductus arteriosus, Leukopenia, Anemia, Gastroesophageal reflux, Achalasia, Esophageal stri...	OMIM:617053
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
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven...	OMIM:618291
8p23.1 deletion syndrome	Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect	DECIPHER:39
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Gliosis	OMIM:614959
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Venous insuf...	ORPHA:90308
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular ...	OMIM:606003
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Patent foramen ovale, Delayed CNS myelination, Atrial septal defect, Lateral ventricle dilatation	OMIM:620075
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Micrognathia, Ventricular septal defect, Atrial septal defect	OMIM:608227
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse, Hydrocephalus, Azoospermia, Obesity, High, narrow palate	ORPHA:2183
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Ventriculomegaly, Small for gestational age, Gliosis, Truncal obesity	OMIM:300957
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Hydronephrosis	OMIM:613390
Congenital Myopathy 11	Patent ductus arteriosus, Patent foramen ovale, Apneic episodes in infancy, Atrial septal defect,...	OMIM:619967
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Central Precocious Puberty	Hydrocephalus, Obesity, Increased circulating gonadotropin level, Hypothalamic hamartoma, Increas...	ORPHA:759
Hepatorenocardiac Degenerative Fibrosis	Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen...	OMIM:619902
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Cerebral hypomyelination	OMIM:300475
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Muscular ventricular ...	OMIM:619227
Null Syndrome	Demyelinating peripheral neuropathy, Peripheral demyelination, CNS hypomyelination	ORPHA:280234
Multisystemic Smooth Muscle Dysfunction Syndrome	Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati...	OMIM:613834
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Vesicoureteral Reflux 3	Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G...	OMIM:613674
Rubinstein-Taybi Syndrome 1	Aortic isthmus hypoplasia, Cleft palate, Patent foramen ovale, Narrow palate, Ventricular septal ...	OMIM:180849
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intestinal malrotation, Abno...	ORPHA:401935
Distal Tetrasomy 15Q	Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Atrial septal defect, Hor...	ORPHA:314588
Chime Syndrome	Pulmonary valve atresia, Ventricular septal defect, Acute leukemia, Cleft palate, Tetralogy of Fa...	ORPHA:3474
Malan Overgrowth Syndrome	High palate, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Obesity, Ventriculomegaly	ORPHA:521390
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy, CNS hypomyelination	OMIM:619688
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-ch...	OMIM:608836
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Aicardi-Goutieres Syndrome 4	Leukodystrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Ventriculomegaly	OMIM:610333
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
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Alexander Disease Type I	Cachexia, Hydrocephalus, Failure to thrive, Abnormal thalamic MRI signal intensity, Dysphagia	ORPHA:363717
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Polycystic kidney dysplasia, Lacticaciduria, Cardiorespiratory arrest, Restrictiv...	ORPHA:26791
Kawasaki Disease	Abnormal pulmonary interstitial morphology, Ascending tubular aorta aneurysm, Hepatitis, Jaundice...	ORPHA:2331
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus, Delayed myelination	ORPHA:397951
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins, Ventricular septal defect	OMIM:126320
Diets-Jongmans Syndrome	Duodenal atresia, Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricul...	OMIM:618846
Ddost-Cdg	Gastroesophageal reflux, Failure to thrive, CNS hypomyelination	ORPHA:300536
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation	OMIM:256850
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Ventriculomegaly, Leukodystrophy, Failure to thrive, Increase...	OMIM:616034
Acalvaria	Spina bifida, Cleft palate, Holoprosencephaly, Hydrocephalus	ORPHA:945
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, CNS hypomyelination	OMIM:615281
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Intestinal malrotation, Hypop...	ORPHA:2001
Pelizaeus-Merzbacher Disease, Transitional Form	CNS hypomyelination	ORPHA:280224
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona...	ORPHA:290
Atrial Septal Defect 8	Anomalous pulmonary venous return, Atrial septal defect	OMIM:614433
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination	ORPHA:85163
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot	ORPHA:276422
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Aortic Aneurysm, Familial Thoracic 9	Aortic tortuosity, High palate, Mitral valve prolapse, Ascending aortic dissection, Thoracic aort...	OMIM:616166
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Alagille Syndrome 2	Atrial septal defect, Cholestasis, Peripheral pulmonary artery stenosis, Cholestatic liver diseas...	OMIM:610205
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent...	ORPHA:508498
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, CNS hypomyelination	OMIM:618186
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Atrial septal defect, Hypoplastic aortic arch, Hematochezia, Ab...	ORPHA:261311
Knobloch Syndrome	Patent ductus arteriosus, Pyloric stenosis, Dextrocardia, Lymphangioma	ORPHA:1571
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, T lymphocytopenia, Abnorm...	OMIM:618223
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis	ORPHA:1988
Perlman Syndrome	Volvulus, Interrupted aortic arch, Distal ileal atresia, Pancreatic islet-cell hyperplasia	OMIM:267000
Congenital Toxoplasmosis	Cardiomegaly, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Isolated Cleft Lip	Supernumerary maxillary incisor, Situs inversus totalis	ORPHA:199302
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	High palate, Failure to thrive, CNS hypomyelination, Severe demyelination of the white matter, Ag...	ORPHA:481152
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	CNS hypomyelination	ORPHA:88637
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a...	ORPHA:228308
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myofiber disarray, Basal ganglia gliosis, High palate, Ventriculomegaly, Hypertrophic cardiomyopa...	OMIM:604377
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic...	ORPHA:157
Krabbe Disease	Hydrocephalus, CNS demyelination, Failure to thrive, Increased CSF protein concentration, Periphe...	OMIM:245200
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Morphol...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hydrocephalus	OMIM:618302
Leukodystrophy, Hypomyelinating, 12	Cerebral hypomyelination, Delayed myelination, Ventriculomegaly	OMIM:616683
Folinic Acid-Responsive Seizures	Cerebral hypomyelination, Delayed myelination, Elevated CSF neopterin level, Decreased CSF 5-meth...	ORPHA:79097
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	High palate, Ventriculomegaly, Small for gestational age, Bicuspid aortic valve, Macroglossia, CN...	OMIM:614501
Leukoencephalopathy, Cystic, Without Megalencephaly	Abnormal CNS myelination, Ventriculomegaly	OMIM:612951
Prune Belly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Recurrent respiratory infections, Volvulus, ...	ORPHA:2970
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Spastic Paraplegia 50, Autosomal Recessive	High palate, Ventriculomegaly, Gliosis	OMIM:612936
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Leukodystrophy, CNS hypomyelination	OMIM:617560
Kaposi Sarcoma	Abnormality of the liver, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy,...	ORPHA:33276
Diabetes Insipidus, Neurohypophyseal	Central diabetes insipidus, Gliosis	OMIM:125700
Marden-Walker Syndrome	High palate, Pyloric stenosis, Pulmonary hypoplasia, Dextrocardia, Cleft palate, High, narrow pal...	OMIM:248700
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, CNS hypomyelination	OMIM:614883
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Gastroesophageal r...	OMIM:301043
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Dysphagia, Dysplastic corpus callosum, Failure to...	ORPHA:488627
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Respiratory ...	OMIM:231680
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Delayed CNS myelination, Protrudi...	OMIM:619580
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, High palate, CNS hypomyelination	OMIM:616158
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ...	OMIM:603860
Hereditary Methemoglobinemia	Small for gestational age, Cerebral hypomyelination, Delayed myelination	ORPHA:621
Trisomy 17P	Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left heart, Urethral stenosis, Aort...	ORPHA:261290
X-Linked Intellectual Disability, Nascimento Type	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Neutropenia, Ventr...	ORPHA:163956
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Developmental And Epileptic Encephalopathy 5	Gastroesophageal reflux, CNS hypomyelination	OMIM:613477
Pagod Syndrome	Abnormal aortic morphology, Abnormality of the pulmonary artery, Pulmonary hypoplasia, Hypoplasti...	ORPHA:991
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Aplasia/Hypop...	ORPHA:1120
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Pyloric stenosis, Abnormal aortic valve morphology, Atrial septal defect...	ORPHA:261197
Proteus Syndrome	Splenomegaly, Venous malformation, Lymphangioma	OMIM:176920
Giant Axonal Neuropathy	Abnormality of the pituitary gland, CNS hypomyelination	ORPHA:643
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot	ORPHA:2184
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Ventricular septal defect, Rectal atresia, Volvulus, A...	OMIM:115470
Distal Trisomy 5Q	Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Dysplastic corpus callosum, CNS hypomyelination	OMIM:619423
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Leukodystrophy, CNS hypomyelination	OMIM:616420
Charge Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Esophageal at...	OMIM:214800
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia, Respiratory distress	OMIM:184260
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis	ORPHA:195
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ventriculomegaly, CNS hypomyelination, Gliosis	OMIM:617193
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Leukodystrophy, CNS hypomyelination, Dysphagia	OMIM:607694
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Patent ductus arteriosus, Gastroesophageal reflux, Narrow palate, Ventricular septal defect, Vasc...	ORPHA:353281
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Increased size of n...	OMIM:619769
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Leukodystrophy, CNS hypomyelination	ORPHA:527497
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Porta...	OMIM:614300
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ...	ORPHA:392
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ...	OMIM:604169
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	CNS demyelination, Gliosis, Dysphagia	OMIM:221820
Congenital Myopathy 19	Respiratory insufficiency, Hydronephrosis, Renal atrophy, Respiratory insufficiency due to muscle...	OMIM:618578
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	CNS hypomyelination, Delayed CNS myelination, Cervical myelopathy	OMIM:619260
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection	OMIM:613780
Huntington Disease-Like 1	Ventriculomegaly, Weight loss, Gliosis	ORPHA:157941
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Failure to thrive, Delay...	OMIM:615286
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Cleft palate, Atrial septal defect, Coarctation of aorta	OMIM:615502
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Delayed myelination, High palate, Ventriculomegaly, Lateral ventricle d...	ORPHA:572798
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis, Lateral ventricle dilatation	OMIM:607485
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A...	ORPHA:2237
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:617044
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Lateral ventricle dilatation, Bicus...	ORPHA:457279
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis, Lateral ventricle dilatation	OMIM:618914
Pentalogy Of Cantrell	Absent gallbladder, Abnormal pericardium morphology, Ventricular septal defect, Polysplenia, Pulm...	ORPHA:1335
Immunodeficiency 110 With Lymphoproliferation	Atrial septal defect	OMIM:614868
4H Leukodystrophy	Cerebral hypomyelination, Decreased response to growth hormone stimulation test, Dysphagia	ORPHA:289494
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Malar fl...	OMIM:241310
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Pontocerebellar Hypoplasia, Type 4	Gliosis, Dysphagia	OMIM:225753
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Ciliary dyskinesia	ORPHA:1882
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Cholelithiasis	OMIM:240300
Xanthinuria, Type I	Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis	OMIM:278300
Developmental And Epileptic Encephalopathy 79	CNS hypomyelination	OMIM:618559
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	High palate, CNS hypomyelination	OMIM:620023
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembr...	OMIM:301040
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hydrocephalus	OMIM:601794
Czeizel-Losonci Syndrome	Ureteral agenesis, Congenital megaureter, Dextrocardia, Abnormality of the urinary system, Hydron...	ORPHA:2437
Cardiospondylocarpofacial Syndrome	Patent foramen ovale, Gastroesophageal reflux, Ventricular septal defect, Atrial septal defect, D...	OMIM:157800
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Atrial septal defect	OMIM:614249
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Delayed myelination, Lateral ventricle dilatation, Dysphagia	ORPHA:2148
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Sleep apnea, Hy...	OMIM:618161
Orofaciodigital Syndrome Type 14	Lobulated tongue, Dilated third ventricle, Dilated fourth ventricle, Bifid tongue, Ventricular se...	ORPHA:434179
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination, Ventriculomegaly	OMIM:611555
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Agenesis of corpus ...	OMIM:218350
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Secun...	OMIM:619534
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Microphthalmia, Syndromic 12	Retrognathia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Pulmonary hypoplasia	OMIM:615524
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Patent ductus arteriosus, Ascending tubular aorta aneurysm, High palate, Truncus arteriosus, Peri...	OMIM:612474
Developmental And Epileptic Encephalopathy 78	CNS hypomyelination	OMIM:618557
Distal Monosomy 15Q	Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven...	ORPHA:1596
Ochoa Syndrome	Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie...	ORPHA:2704
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Leigh Syndrome	Failure to thrive, CNS demyelination, Gliosis, Increased CSF lactate	OMIM:256000
Tremor-Ataxia-Central Hypomyelination Syndrome	Leukodystrophy, CNS hypomyelination, Dysphagia	ORPHA:447896
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart morphology, Stillbirth	OMIM:276950
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus	OMIM:300886
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti...	OMIM:614823
Charge Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Aortic arch aneurysm, Abnormal cardiac septum ...	ORPHA:138
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma, Ventricular septal defect, CNS hypomyelination	OMIM:619908
Multiple Mitochondrial Dysfunctions Syndrome 4	Leukodystrophy	OMIM:616370
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Gliosis, Cardiomyopathy	OMIM:615119
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Kohlschutter-Tonz Syndrome-Like	Gastroesophageal reflux, Decreased body weight, Ventriculomegaly, Lateral ventricle dilatation, V...	OMIM:619229
Combined Oxidative Phosphorylation Deficiency 11	Increased CSF lactate, Delayed myelination, CNS hypomyelination, Cardiomyopathy	OMIM:614922
Kaya-Barakat-Masson Syndrome	CNS hypomyelination	OMIM:619125
Aicardi-Goutieres Syndrome 9	Weight loss, Lateral ventricle dilatation, Pericardial effusion, Left ventricular hypertrophy, Pe...	OMIM:619487
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Failure to thr...	OMIM:300952
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Gastroesophageal reflux, High palate, Ventriculomegaly, Failure to thrive, Delayed CNS myelinatio...	OMIM:618603
Developmental And Epileptic Encephalopathy 75	CNS hypomyelination, Cardiomyopathy	OMIM:618437
Ogden Syndrome	Secundum atrial septal defect, Pulmonary hypoplasia, Pulmonary artery stenosis, Peripheral pulmon...	OMIM:300855
Leukodystrophy, Hypomyelinating, 22	CNS hypomyelination	OMIM:619328
Loeys-Dietz Syndrome 6	Abdominal aortic aneurysm, Ventricular hypertrophy, High palate, Vertebral artery aneurysm, Carot...	OMIM:619656
Developmental And Epileptic Encephalopathy 93	CNS hypomyelination	OMIM:618012
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Leukodystrophy, Cerebral hypomyelination, CNS hypomyelination, Dysphagia	OMIM:614381
Temple Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Bifid uvula, Hy...	ORPHA:254516
Joubert Syndrome 20	Respiratory insufficiency, Renal cyst	OMIM:614970
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Infantile Sialic Acid Storage Disease	Cardiomegaly, Failure to thrive, Hydrocephalus, High palate	OMIM:269920
Kleefstra Syndrome Due To A Point Mutation	Gastroesophageal reflux, Ventriculomegaly, Large for gestational age, Anal atresia, Failure to th...	ORPHA:261652
Halperin-Birk Syndrome	Gastroesophageal reflux, Pseudobulbar paralysis, High palate, Perimembranous ventricular septal d...	OMIM:618651
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H...	ORPHA:699
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Short 4th metacarpal, Atrial septal defect	OMIM:113301
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Delayed myelination, Ventriculomegaly, Cerebral hypomyelination, Failure...	ORPHA:79351
Isolated Polycystic Liver Disease	Respiratory insufficiency, Multiple renal cysts	ORPHA:2924
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, High palate, Hypoplasia of the thymus, Conotruncal defect, Median ...	ORPHA:40366
Viss Syndrome	Aortic tortuosity, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft palate, Pneumothora...	OMIM:619472
Restrictive Dermopathy	Patent ductus arteriosus, Ascending tubular aorta aneurysm, Microcolon, Submucous cleft hard pala...	ORPHA:1662
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia	OMIM:225050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:602501
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect	OMIM:243440
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Meckel diverticulum, Dysphagia, Dandy-Walker malformation	ORPHA:163961
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus	OMIM:616521
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic ...	OMIM:269200
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Ventricular septal defect, A...	OMIM:619189
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Ventricular hypertrophy, Patent foramen ovale, Progressive ventriculomegaly, Failure to thrive, M...	OMIM:602613
Branchiootorenal Syndrome 1	Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys...	OMIM:113650
Congenital Disorder Of Glycosylation, Type Iig	High palate, Lateral ventricle dilatation, Left ventricular hypertrophy, Cleft palate, Failure to...	OMIM:611209
Distal Monosomy 10Q	High palate, Lateral ventricle dilatation, Anal atresia, Atrial septal defect, Spina bifida occul...	ORPHA:96148
Joubert Syndrome 7	Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst,...	OMIM:611560
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Spasticity, Childhood-Onset, With Hyperglycinemia	Leukodystrophy	OMIM:616859
Fixed Subaortic Stenosis	Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter...	ORPHA:3092
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, High palate, Ischemic...	OMIM:619503
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Respiratory insufficiency, Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplas...	ORPHA:2973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Left ventricular hypertrophy, Dandy...	OMIM:613153
German Syndrome	Tetralogy of Fallot, High palate, Abnormal cardiac septum morphology, Dysphagia	ORPHA:2077
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Cog5-Cdg	Delayed myelination, High palate, Lateral ventricle dilatation	ORPHA:263487
Leukodystrophy, Hypomyelinating, 5	Leukodystrophy, Onion bulb formation, CNS hypomyelination	OMIM:610532
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618577
Carpenter Syndrome 2	Patent ductus arteriosus, Narrow palate, High palate, High, narrow palate, Atrial septal defect, ...	OMIM:614976
Monosomy 18Q	Patent ductus arteriosus, Absence of the pulmonary valve, High palate, Secundum atrial septal def...	ORPHA:1600
Williams Syndrome	Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Abnormal cardiac septum morphology, Abno...	ORPHA:904
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Fusion of the left and right thalami, Ventricular septal defect, CNS hy...	OMIM:619306
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Pallister-Hall-Like Syndrome	Glioma, Anterior hypopituitarism, Hydrocephalus, Microglossia, Cleft palate, Occipital encephaloc...	OMIM:241800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Gastroesophageal reflux, High palate, Ventriculomegaly, Demyelinating peripheral neuropathy, Hydr...	OMIM:619833
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology, High palate, Normal pressure hydrocephalus, Lateral ventricle...	ORPHA:300570
Fibromuscular Dysplasia, Arterial	Aortic dissection, Arterial fibromuscular dysplasia, Stroke	OMIM:135580
De Barsy Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Recurrent sinopulmonary infecti...	ORPHA:2962
Aortic Aneurysm, Familial Thoracic 6	Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur...	OMIM:611788
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Cleft palate	OMIM:619895
Coronary Arterial Fistula	Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Ba...	ORPHA:2041
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Bicuspid aortic valve, Atrial septal defect, Patent ductus arter...	OMIM:613355
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy, Cerebral hypomyelination, Demyelinating motor neuropathy	OMIM:608804
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Cerebral hypomyelination, Abnormal myelination, Gliosis	ORPHA:280210
Vater/Vacterl Association	Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Anal atresia, Tracheoeso...	OMIM:192350
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Leukodystrophy	OMIM:616763
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect	OMIM:618569
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, High palate, Ventricular...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, High palate, Ventricular...	ORPHA:353277
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Asthma, H...	OMIM:610978
Syndromic Diarrhea	Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of t...	ORPHA:84064
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias	OMIM:614091
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Macroglossia, Cardiomyopathy	OMIM:613155
Renpenning Syndrome 1	Mandibular prognathia, Ventricular septal defect, Micrognathia, Atrial septal defect, Situs inver...	OMIM:309500
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hepatoblastoma, Hepatomegaly, Cleft palate, Splenomegaly, Narro...	OMIM:312870
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta	OMIM:616559
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	CNS hypomyelination	OMIM:619286
Bone Dysplasia, Lethal Holmgren Type	Respiratory insufficiency, Patent ductus arteriosus, Rhizomelia, Short ribs, Atrial septal defect...	ORPHA:1842
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Joubert Syndrome With Ocular Defect	Cleft palate, Dextrocardia, Aganglionic megacolon	ORPHA:220493
Autosomal Recessive Spastic Paraplegia Type 44	CNS hypomyelination	ORPHA:320401
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, CNS hypomyelination	OMIM:618622
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Delayed CNS myelination, Colpocephaly	OMIM:618731
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly	ORPHA:272
Noonan Syndrome 14	Lateral ventricle dilatation, Mitral valve prolapse, Hypertrophic cardiomyopathy, High, narrow pa...	OMIM:619745
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic arch...	ORPHA:567
Pseudoaminopterin Syndrome	Asplenia, High palate, Patent foramen ovale	ORPHA:221120
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Verheij Syndrome	Renal cyst, Renal agenesis, Renal hypoplasia, Abnormal cardiac septum morphology	OMIM:615583
Primary Non-Essential Cutis Verticis Gyrata	Ventricular septal defect, Atrial septal defect, Gliosis	ORPHA:357225
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Narrow palate, Jejunal atresia, Cerebral hypomyelination, High, narrow palate, Right ventricular ...	OMIM:612949
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Leukodystrophy, CNS hypomyelination, Dysphagia	OMIM:619576
Temple Syndrome	High palate, Small for gestational age, Bifid uvula, Hydrocephalus, Overweight, Truncal obesity, ...	OMIM:616222
Warsaw Breakage Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	OMIM:613398
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Neutropenia, Ventricular septal defect, Secundum atrial septal defect, ...	OMIM:612562
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Malabsorption, Aganglionic megacolon, Exocri...	ORPHA:452
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Williams-Beuren Region Duplication Syndrome	High palate, Ventriculomegaly, Decreased response to growth hormone stimulation test, Small for g...	OMIM:609757
Arima Syndrome	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy...	OMIM:243910
Leukodystrophy, Hypomyelinating, 6	Leukodystrophy, Cerebral hypomyelination	OMIM:612438
Greig Cephalopolysyndactyly Syndrome	Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:175700
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect	OMIM:263630
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis	OMIM:613002
Microphthalmia, Syndromic 2	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ...	OMIM:300166
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Lateral ventricle dilatation	ORPHA:565624
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Patent foramen ovale, Gastroesophageal reflux, Ventricular septal defect, Atrial septal defect, C...	OMIM:210710
Frank-Ter Haar Syndrome	Double outlet right ventricle, Patent foramen ovale, High palate, Ventricular septal defect, Secu...	OMIM:249420
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect	OMIM:613730
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Hyp...	OMIM:618748
Intellectual Developmental Disorder, Autosomal Dominant 36	Delayed CNS myelination, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Leukoencephalopathy, Brain Calcifications, And Cysts	Leukodystrophy	OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation, Hypothalamic atrophy, Overweight, Dysphagia, Obesity	ORPHA:2822
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Asthma, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:614262
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Pneumoth...	ORPHA:91387
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Patent foramen ovale, Dental malocclusion, Bicuspid aortic valve, Atria...	OMIM:619149
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Abnormal thalamic MRI signal intensity, CNS hypomyelination	ORPHA:309155
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Tetralogy of Fallot	OMIM:250620
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Cleft soft palate...	ORPHA:268261
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular se...	OMIM:617506
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter...	OMIM:600460
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Atrial septal defect, Coarctati...	OMIM:617159
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
3C Syndrome	Atrioventricular canal defect, Gastroesophageal reflux, Ventricular septal defect, Abnormal mitra...	ORPHA:7
Kagami-Ogata Syndrome	Retrognathia, Pulmonary arterial hypertension, Splenomegaly, Patent ductus arteriosus, Ventricula...	OMIM:608149
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Malar flattening, Atrial septal defect	ORPHA:93946
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Abnormal lung lobation, ...	OMIM:300514
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Hypoplastic right heart, Micro...	OMIM:618142
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Respiratory failure, Pulmonary hypoplasia, Neonat...	OMIM:616867
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Leukodystrophy	OMIM:619196
Meckel Syndrome 14	Cardiorespiratory arrest, Single ventricle, Polycystic kidney dysplasia, Pneumothorax	OMIM:619879
Hardikar Syndrome	Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac...	OMIM:301068
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum	OMIM:617542
Combined Oxidative Phosphorylation Deficiency 14	Increased CSF lactate, Basal ganglia gliosis, Ventriculomegaly, Gliosis	OMIM:614946
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	ORPHA:3306
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, Panhypopituitarism, Failure to thrive, CNS...	OMIM:618922
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, High palate, Bicuspid aort...	OMIM:617168
Adams-Oliver Syndrome	Leukopenia, Cirrhosis, Arteriovenous malformation, Esophageal varix, Abnormal pulmonary valve mor...	ORPHA:974
Birt-Hogg-Dube Syndrome	Renal cell carcinoma, Renal neoplasm, Renal cyst, Spontaneous pneumothorax	OMIM:135150
Diaphanospondylodysostosis	Multiple renal cysts, Respiratory distress	ORPHA:66637
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Neonatal death, CNS demyelination, Hypertrophic cardiomyopathy	OMIM:618237
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Leopard Syndrome 3	Tetralogy of Fallot, Abnormal mitral valve morphology, Abnormal aortic valve morphology	OMIM:613707
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,...	OMIM:618494
Bainbridge-Ropers Syndrome	Gastroesophageal reflux, High palate, Lateral ventricle dilatation, Intestinal malrotation, Failu...	OMIM:615485
Developmental And Epileptic Encephalopathy 29	Failure to thrive, CNS hypomyelination	OMIM:616339
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho...	ORPHA:555874
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Gliosis	OMIM:604484
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, CNS hypomyelination, Dysphagia	ORPHA:300605
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Cleft soft palate, Lateral ventricle dilatation	ORPHA:293725
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup...	OMIM:618775
Chromosome 15Q14 Deletion Syndrome	Recurrent viral upper respiratory tract infections, Ventricular septal defect, Atrial septal defect	OMIM:616898
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Pulmonary hypoplasia, ...	OMIM:256520
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease	OMIM:617056
Hereditary Xanthinuria	Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,...	ORPHA:3467
Retinal Dystrophy With Leukodystrophy	Cleft palate, CNS hypomyelination	OMIM:618863
Gabriele-De Vries Syndrome	Patent foramen ovale, Delayed CNS myelination, High palate, Lateral ventricle dilatation	OMIM:617557
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis, Increased CSF protein concentration	ORPHA:204
Huntington Disease	Gliosis	OMIM:143100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, High palate, Lateral ventricle dilatation, Small for gestational age, A...	OMIM:619869
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Perimembranous ventricular septal ...	ORPHA:83617
Aase-Smith Syndrome I	Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Thanatophoric Dysplasia Type 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Holoprosencephaly	ORPHA:93274
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis of corpus...	OMIM:207950
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, High palate	OMIM:613776
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia, Ventricular septal...	OMIM:606232
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Acrocardiofacial Syndrome	Ventricular septal defect, Truncus arteriosus, Mitral stenosis, Anal atresia, Atrial septal defec...	ORPHA:2008
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, High palate, Cerebral hemorrhage, Bicuspid aortic valve, Aort...	ORPHA:536545
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis, Ankyloglossia, C...	OMIM:618021
Transketolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal coronary arte...	ORPHA:488618
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Dysphagia	OMIM:300857
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Cleft palate, Agenes...	OMIM:225790
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Hydronephrosis	OMIM:619797
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gliosis, High palate, Overweight, Decreased response to growth hormone stimulation test	ORPHA:457240
Adenylosuccinase Deficiency	Cerebral hypomyelination, CNS hypomyelination	OMIM:103050
Phace Association	Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Ven...	OMIM:606519
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Micrognathia, Abnormal heart morphology, Atrial septal defect	ORPHA:352490
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Anal atresia, Pulmonary hypoplasia, Esophageal diverticulum, Complete atriove...	OMIM:617925
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc...	ORPHA:107
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, High, narrow palate	ORPHA:2181
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Hepatitis...	OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 35	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
L1 Syndrome	Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Absent gallbladder, Biliary atresia, Patent foramen ovale, ...	ORPHA:3310
1Q44 Microdeletion Syndrome	High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Hydrocephalus, Intestinal malr...	ORPHA:238769
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph...	ORPHA:231160
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Bicuspid aortic valve, Aganglionic megacolon, Pyloric stenosis, Bifid uvula, Abnormalit...	ORPHA:261537
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Patent ductus arteriosus, Micrognathia, Atrial septal defect, Co...	OMIM:614857
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:615219
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ...	ORPHA:402075
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Obesity, Ventriculomegaly, Ventricular septal defect	OMIM:615630
Multiple Mitochondrial Dysfunctions Syndrome 3	High palate, Ventriculomegaly, Leukodystrophy, Increased CSF lactate, Increased CSF glycine conce...	OMIM:615330
Congenital Cataracts, Hearing Loss, And Neurodegeneration	CNS hypomyelination	OMIM:614482
Machado-Joseph Disease	Dilated fourth ventricle, Gliosis, Dysphagia	OMIM:109150
Mowat-Wilson Syndrome	Patent ductus arteriosus, Asplenia, Enterocolitis, Abnormal cardiac septum morphology, Bicuspid a...	ORPHA:2152
Leukodystrophy, Hypomyelinating, 24	Leukodystrophy, Ventriculomegaly	OMIM:619851
Immunodeficiency 26 With Or Without Neurologic Abnormalities	CNS hypomyelination	OMIM:615966
Mosaic Trisomy 1	Cleft palate, Agenesis of corpus callosum, Ventricular septal defect, Lateral ventricle dilatation	ORPHA:1692
Loeys-Dietz Syndrome 4	Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Pneumotho...	OMIM:614816
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ...	OMIM:611134
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Lymphangioma, Venous insufficiency	ORPHA:137608
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Hydrocephalus	ORPHA:398189
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect...	OMIM:619268
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Macroglossia, Decreased thalamic volum...	ORPHA:370959
Developmental And Epileptic Encephalopathy 4	Cerebral hypomyelination, Delayed CNS myelination	OMIM:612164
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate	OMIM:300558
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Short distal phalanx of toe, Atrial septal defect, Delayed eruption of permanent te...	OMIM:619356
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopros...	ORPHA:77298
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology, Gliosis, Dysphagia	ORPHA:275872
Thymic Carcinoma	Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy	ORPHA:99868
Spinocerebellar Ataxia 17	Gliosis, Dysphagia	OMIM:607136
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Bifid uvula, Hydrocephalus, Failure to thrive, Hypertrophic cardiomyop...	OMIM:612938
Potocki-Lupski Syndrome	Patent foramen ovale, Dental malocclusion, Mandibular prognathia, Micrognathia, Atrial septal def...	OMIM:610883
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Pseudobulbar paralysis, Symmetric peripheral demyelination, Gliosis, Leukodystrophy	OMIM:169500
Mckusick-Kaufman Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Ectopic anus, Aganglionic megac...	ORPHA:2473
Gjc2-Related Late-Onset Primary Lymphedema	Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel morphology, Venous ins...	ORPHA:568051
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:3469
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Hydronephrosis	OMIM:620141
Spinocerebellar Ataxia, Autosomal Recessive 27	Gliosis, Dysphagia	OMIM:618369
Weaver Syndrome	Delayed CNS myelination, Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Patent ductus arteriosus, Asplenia, Ventricular septal defect, Bicuspid aortic valve, Aganglionic...	ORPHA:261552
Lymphatic Malformation 7	Anemia, Pulmonary edema, Pericardial effusion, Atrial septal defect, Pleural effusion, Chylothora...	OMIM:617300
8Q12 Microduplication Syndrome	Short foot, Ventricular septal defect, Atrial septal defect	ORPHA:228399
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	ORPHA:1895
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Ventriculomegaly, Increased CSF lactate, Leukodystrophy, Hypertrophic ca...	OMIM:619051
Joubert Syndrome 18	Renal cyst, Horseshoe kidney, Ventricular septal defect	OMIM:614815
Ring Chromosome 7 Syndrome	Ventriculomegaly, Bifid uvula, Holoprosencephaly, Situs inversus totalis, Cleft palate, Median cl...	ORPHA:1449
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Leukodystrophy, Inflammation of the large intestine, Absent uvula, CNS hypomyelination, Dysphagia...	OMIM:619708
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Ventricular septal defect, Enterocolitis, Jejunal atresia, Recurrent re...	OMIM:243150
Emanuel Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Truncus arteriosus, Ventricular septal de...	OMIM:609029
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Tuberous Sclerosis Complex	Hepatic cysts, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, Abnorma...	ORPHA:805
Histiocytosis-Lymphadenopathy Plus Syndrome	Patent ductus arteriosus, Pancreatic hypoplasia, Splenomegaly, Retroperitoneal fibrosis, Ventricu...	OMIM:602782
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Ventriculomegaly,...	OMIM:615873
Orofaciodigital Syndrome Xiv	Lobulated tongue, Bifid tongue, Ventricular septal defect, Aplasia of the epiglottis, Atrial sept...	OMIM:615948
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect	OMIM:618974
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Pick Disease Of Brain	Gliosis	OMIM:172700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Delayed myelination, High palate, Lateral ventricle dilatation, Large for gestational age, Atrial...	OMIM:300868
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Metatropic Dysplasia	Cleft palate, Hydrocephalus	ORPHA:2635
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Polycystic kidney dysplasia, Atrial septal defect, Renal cyst, Hypospa...	OMIM:614866
Rhombencephalosynapsis	Ventriculomegaly, Esophageal atresia, Aganglionic megacolon, Hydrocephalus, Anal atresia, Tracheo...	ORPHA:59315
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Pulmonary arteri...	OMIM:175050
Prader-Willi Syndrome Due To Translocation	Patent foramen ovale, Anterior pituitary hypoplasia, High palate, Decreased response to growth ho...	ORPHA:177907
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Malar flattening, Atrial septal defect	ORPHA:261295
Frontoocular Syndrome	Micrognathia, Pulmonic stenosis, Atrial septal defect	OMIM:605321
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Inflammation of...	OMIM:614576
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:618652
Bresek Syndrome	Cleft palate, Neonatal death, Hydrocephalus, Aganglionic megacolon	ORPHA:85284
Gaba-Transaminase Deficiency	Leukodystrophy, Agenesis of corpus callosum	OMIM:613163
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, Ventricular septal defect, High palate, Recurrent respiratory inf...	OMIM:174300
Mosaic Trisomy 16	Patent ductus arteriosus, Ventricular septal defect, Abnormality of the gastrointestinal tract, P...	ORPHA:1708
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect	OMIM:617744
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Macroglossia	ORPHA:1914
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Gliosis	OMIM:614498
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Protr...	ORPHA:96147
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect	OMIM:618499
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Bronchiectasis, Micrognathia, Recurrent sinusitis, Atrial septal defect, Recurrent pneumonia, Rec...	OMIM:618282
Atresia Of Urethra	Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf...	ORPHA:105
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Atrial septal defect	ORPHA:2655
Emanuel Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Ectopic anus, Truncus arteriosus, Ventric...	ORPHA:96170
Pelizaeus-Merzbacher Disease In Female Carriers	CNS hypomyelination	ORPHA:280229
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal...	ORPHA:255249
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Pseudobulbar paralysis, Cerebral hypomyelination	ORPHA:438114
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, Intestinal malrota...	OMIM:263520
Mckusick-Kaufman Syndrome	Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate, Obesity	ORPHA:2180
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Trisomy 13	Ventricular septal defect, Atrial septal defect, Abnormality of the ureter, Multiple renal cysts,...	ORPHA:3378
Esophageal Atresia	Bronchitis, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Ano...	ORPHA:1199
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Primum atrial septal defect, Displacement of the papillary muscles, Complete...	ORPHA:1329
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Hypospadias, Cardiomega...	OMIM:616897
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale, Short 5th finger, Rhizomelia, Micrognathia, Short thumb	OMIM:618821
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, CNS hypomyelination	OMIM:618527
Nephronophthisis 3	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:604387
Recombinant 8 Syndrome	Patent ductus arteriosus, Ventricular septal defect, Abnormality of the anus, Atrial septal defec...	ORPHA:96167
Noonan Syndrome 8	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ...	OMIM:615355
Atrial Septal Defect 9	Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Hydrocephalus	OMIM:613330
Sandhoff Disease	Cardiomegaly, Macroglossia, CNS hypomyelination	OMIM:268800
Multiple Sulfatase Deficiency	Ventriculomegaly, Hydrocephalus, CNS demyelination, Increased CSF protein concentration, Peripher...	OMIM:272200
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Methylcobalamin Deficiency Type Cble	Failure to thrive, Hydrocephalus, Ventriculomegaly, Delayed myelination	ORPHA:2169
Leigh Syndrome	Ventricular septal defect, Leukodystrophy, Failure to thrive, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:506
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Obesity	ORPHA:171839
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection	OMIM:617349
Renal Coloboma Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins...	ORPHA:1475
15q26 overgrowth syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du...	DECIPHER:81
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Peripheral demyelination, Ventriculomegaly, Gliosis	OMIM:252160
Floating-Harbor Syndrome	Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic kidney dysplasia,...	ORPHA:2044
Triploidy	Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Macroglossia, Intestinal malrotat...	ORPHA:3376
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Ventricular septal defect, Atrial septal defect	ORPHA:49827
Pontocerebellar Hypoplasia, Type 17	Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Secundum atrial s...	OMIM:619909
Hemangioblastoma	Hydrocephalus	ORPHA:252054
L-2-Hydroxyglutaric Aciduria	Gliosis, Severe demyelination of the white matter	OMIM:236792
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Ventricular septal defect, Chylothorax, Cleft palate, Tetralogy of Fall...	OMIM:153400
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Gliosis	OMIM:604218
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hydronephrosis	OMIM:618950
Whim Syndrome	Lymphadenitis, Respiratory tract infection, Neutropenia, Abnormality of neutrophil morphology, Br...	ORPHA:51636
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Ventriculomegaly, Gliosis	OMIM:618222
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Delayed myelination, Decreased CSF homovanillic acid concentration, Ventriculomegaly, Decreased C...	ORPHA:404454
Wrinkly Skin Syndrome	High palate, Muscular ventricular septal defect, Atrial septal dilatation	OMIM:278250
Myopathy, Centronuclear, X-Linked	Pyloric stenosis, Hydrocephalus, High palate, Dandy-Walker malformation	OMIM:310400
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Spinocerebellar Ataxia 23	CNS demyelination, Agenesis of corpus callosum	OMIM:610245
B4Galt1-Cdg	Small for gestational age, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia	OMIM:613091
Ebstein Malformation Of The Tricuspid Valve	Respiratory insufficiency, Imperforate tricuspid valve, Patent ductus arteriosus, Abnormal cardia...	ORPHA:1880
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal cyst, Renal insufficiency, Hematuria	OMIM:611773
Meckel Syndrome, Type 3	Cleft palate, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Decreased response to growth hormone stimulation test, Decreased body weigh...	OMIM:609053
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, CNS hypomyelination	OMIM:619322
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy, Atrial septal defect	OMIM:301058
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:606966
Seckel Syndrome 9	Ventricular septal defect, Asthma, Micrognathia, Atrial septal defect, Pulmonary artery hypoplasi...	OMIM:616777
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Left ventricular hypertrophy, Ventriculomegaly, Gliosis	OMIM:618321
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus	ORPHA:163596
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:60040
Prune Belly Syndrome	Congenital posterior urethral valve, Hydroureter, Hydronephrosis	OMIM:100100
Noonan Syndrome 2	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa...	OMIM:605275
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent ductus arteriosus, Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplas...	OMIM:616866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Familial Idiopathic Dilatation Of The Right Atrium	Atrial septal dilatation, Pleural effusion, Abnormal vena cava morphology, Abnormality of the hep...	ORPHA:1677
Wolfram Syndrome 1	Cardiomyopathy, Hydroureter, Neurogenic bladder, Hydronephrosis	OMIM:222300
9Q21.13 Microdeletion Syndrome	Abnormal heart morphology, Hydronephrosis	ORPHA:531151
Peroxisomal Acyl-Coa Oxidase Deficiency	Leukodystrophy, CNS demyelination, Dysphagia	OMIM:264470
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Micrognathia, Coronary-pulmonary artery fistula	OMIM:619699
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Gliosis	OMIM:105550
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Noonan Syndrome 10	Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p...	OMIM:616564
Autosomal Recessive Polycystic Kidney Disease	Pancreatic cysts, Hypoventilation, Recurrent urinary tract infections, Acute kidney injury, Enlar...	ORPHA:731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Dyspnea, Patent foramen ovale, Obstructive sleep apnea, Exertional dyspnea	OMIM:615156
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Chronic kidney disease, Renal cyst, ...	ORPHA:97362
Abruzzo-Erickson Syndrome	Short toe, Malar flattening, Atrial septal defect	ORPHA:921
Zechi-Ceide Syndrome	Mandibular prognathia, Atrial septal defect, Abnormal heart morphology, Short distal phalanx of f...	ORPHA:217017
Hydrolethalus	Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Anencephaly, Cleft pala...	ORPHA:2189
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypoplasia of the maxilla,...	OMIM:614261
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Microretrognathia, Atr...	OMIM:618870
Tetraploidy	Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Micrognathia, Atrial septal defect	ORPHA:776
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Anomalous branches of internal carotid...	ORPHA:363705
Distal Trisomy 6P	Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis	ORPHA:1745
Desmoid Tumor	Abnormality of the upper urinary tract, Hydronephrosis	ORPHA:873
D-Bifunctional Protein Deficiency	High palate, Ventriculomegaly, Cerebral dysmyelination, Failure to thrive, Gliosis	OMIM:261515
Hyperphosphatasia-Intellectual Disability Syndrome	High palate, Aganglionic megacolon, Cerebral hypomyelination, Bifid uvula, Anteriorly placed anus	ORPHA:247262
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Renal agenesis, Hypoplasia of p...	ORPHA:887
Meier-Gorlin Syndrome 7	High palate, Ventricular septal defect, Anal atresia, Atrial septal defect, Duodenal stenosis, Pu...	OMIM:617063
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Ventricular septal defect	OMIM:219730
Leigh Syndrome With Leukodystrophy	Ventricular septal defect, Leukodystrophy, Failure to thrive, Hypertrophic cardiomyopathy, Increa...	ORPHA:255241
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Short 5th finger, Ventricu...	ORPHA:500159
Trisomy 1Q	Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Anal atresia, Cleft palate, Agenesis ...	ORPHA:261344
Temple-Baraitser Syndrome	Short distal phalanx of finger, Pulmonic stenosis, Atrial septal defect	OMIM:611816
Plasminogen Deficiency, Type I	Dandy-Walker malformation, Hydrocephalus, Duodenal ulcer, Ventriculomegaly	OMIM:217090
Distal Monosomy 12Q	Vesicoureteral reflux, Patent foramen ovale, Congenital hypertrophy of left ventricle, Polycystic...	ORPHA:96149
Keppen-Lubinsky Syndrome	Failure to thrive, High palate, Lateral ventricle dilatation	OMIM:614098
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Small hand, Natal tooth, Ventricular septal defect, Micrognathia, Pulmonary...	OMIM:145420
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cirrhosis, Abnormality of the pancreas, Hepatic failure, Ventricular septal def...	OMIM:222470
Johnson Neuroectodermal Syndrome	Cleft palate, Tetralogy of Fallot	ORPHA:2316
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Right aortic arch, Ventricular septal defect, Cleft palate	ORPHA:513456
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hydrocephalus, P...	ORPHA:91348
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Ascending tubular aorta aneurysm, Bifid uvula, Ascending aortic dissection,...	OMIM:610168
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Leukodystrophy, Childhood-Onset, Remitting	Leukodystrophy	OMIM:619864
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Vascular dilatation, Mitral valve prolapse, Aortic aneurysm, Arterial dissection, Recurrent pneum...	ORPHA:1900
Coffin-Siris Syndrome 6	Retrognathia, Micrognathia, Atrial septal defect	OMIM:617808
Burn-Mckeown Syndrome	Micrognathia, Mandibular prognathia, Ventricular septal defect, Atrial septal defect	OMIM:608572
Kleefstra Syndrome 1	Gastroesophageal reflux, Conotruncal defect, Macroglossia, Protruding tongue, Recurrent respirato...	OMIM:610253
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Agenesis of corpus callosum, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Cleft pa...	ORPHA:459061
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnormal localization of kidney,...	ORPHA:1834
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Increased CSF protein concentration	OMIM:608033
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:614195
Fg Syndrome Type 1	Gastroesophageal reflux, High palate, Ventriculomegaly, Abnormal large intestine morphology, Pylo...	ORPHA:93932
Lymphatic Malformation 6	Gastroesophageal reflux, Atrial septal defect, Pleural effusion, Chylothorax, Varicose veins, Spl...	OMIM:616843
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Polycystic kidney dysplasia, Pancreatic cysts	OMIM:610199
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology, Gliosis, Increased CSF protein concentration	ORPHA:88619
Enlarged Parietal Foramina	Cleft palate, Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Netherton Syndrome	Aminoaciduria, Asthma, Emphysema, Ectopic kidney, Hydronephrosis	ORPHA:634
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Familial Multiple Nevi Flammei	Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency	ORPHA:624
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, High palate, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Orofaciodigital Syndrome I	Pancreatic cysts, Polycystic kidney dysplasia, Abnormal heart morphology, Hepatic cysts, Ovarian ...	OMIM:311200
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Chromosome 8Q21.11 Deletion Syndrome	Cleft palate, High palate, CNS hypomyelination	OMIM:614230
Axial Osteomalacia	Renal cyst	OMIM:109130
Kleefstra Syndrome	Vesicoureteral reflux, Ventricular septal defect, Bicuspid aortic valve, Hypoplasia of penis, Ren...	ORPHA:261494
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Partial agen...	ORPHA:1136
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect, Episodic tachypnea	OMIM:615160
Aicardi-Goutieres Syndrome 6	Leukodystrophy, CSF pleocytosis, Increased CSF interferon alpha	OMIM:615010
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Asthma, Atrial septal ...	ORPHA:79345
Pallister-Hall Syndrome	Patent ductus arteriosus, Ventricular septal defect, Abnormal lung lobation, Anal atresia, Anteri...	OMIM:146510
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Astrocytoma, Ventricular septal defect, Agenesis of corpus callosum,...	OMIM:613001
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
8Q24.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Gastroesophageal reflux, Dysphagia, Trun...	ORPHA:508488
Crouzon Syndrome	Hydrocephalus, Narrow palate	ORPHA:207
Johanson-Blizzard Syndrome	Vascular dilatation, Ventricular septal defect, Dilated cardiomyopathy, Atrial septal defect, Sit...	OMIM:243800
Melnick-Needles Syndrome	Respiratory insufficiency, Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2484
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Respiratory failure, Nephrocalcinosis, Ren...	ORPHA:445038
Chromosome 1P36 Deletion Syndrome, Distal	Gastroesophageal reflux, Patent foramen ovale, High palate, Abnormality of the anus, Lateral vent...	OMIM:607872
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Agenesis of corpus callosum, Hydroc...	OMIM:612582
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Anal atresia, Cleft palate	OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Leukodystrophy, Hydrocephalus, Ventriculomegaly	OMIM:616538
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Micrognathia, Jaun...	OMIM:208085
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal respiratory distress, Ventricular septal defect, Atrial septal defect, Hydronephrosis	ORPHA:457193
Bardet-Biedl Syndrome 12	Hydroureter, Cystic renal dysplasia, Hydronephrosis	OMIM:615989
Molybdenum Cofactor Deficiency, Complementation Group A	Peripheral demyelination, Ventriculomegaly, Gliosis	OMIM:252150
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Combined Oxidative Phosphorylation Deficiency 9	Patent foramen ovale, Hepatic steatosis, Hypertrophic cardiomyopathy, Dyspnea, Hepatomegaly	OMIM:614582
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Thrombocytopenia-Absent Radius Syndrome	Cleft palate, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Combined Saposin Deficiency	CNS demyelination	OMIM:611721
Rhizomelic Chondrodysplasia Punctata, Type 2	High palate, Tetralogy of Fallot, Submucous cleft hard palate	OMIM:222765
16P12.1P12.3 Triplication Syndrome	Retrognathia, Short 5th finger, Atrial septal defect, Abnormal heart morphology, Malar flattening...	ORPHA:485405
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Zellweger Syndrome	Respiratory insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, ...	ORPHA:912
Arachnoiditis	Hydrocephalus	ORPHA:137817
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular septal defect, Short ribs,...	ORPHA:2519
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Micrognathia, Atrial ...	ORPHA:435638
Ivic Syndrome	Patent ductus arteriosus, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Leukocytosi...	OMIM:147750
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot...	OMIM:120330
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Abnormal vena cava morphology, Mediastinal...	ORPHA:97289
Alagille Syndrome 1	Cirrhosis, Hepatic failure, Prolonged neonatal jaundice, Ventricular septal defect, Hepatocellula...	OMIM:118450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis	OMIM:619362
Gabriele-De Vries Syndrome	Patent foramen ovale, Delayed myelination, High palate, Ventriculomegaly, Decreased response to g...	ORPHA:506358
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, High palate, Lateral ventricle dilatation, Atrial septal defect, Delayed...	OMIM:300896
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Delayed myelination, Aganglionic megacolon, Hydrocephalus, Anteriorly placed anus, Abnormal heart...	OMIM:239300
Leigh Syndrome With Cardiomyopathy	Basal ganglia gliosis, Abnormality of thalamus morphology, Ventriculomegaly, Leukodystrophy, Abno...	ORPHA:70474
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Urethral stricture, Abnormality of the bladder, Pneumonia, Multicystic kidney dyspl...	ORPHA:79404
Griscelli Syndrome	Pyloric stenosis, Hydrocephalus, Encephalocele	ORPHA:381
Penile Agenesis	Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral fistula, Hydroureter,...	ORPHA:49
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect	OMIM:613870
Kabuki Syndrome 1	High palate, Ventricular septal defect, Lateral ventricle dilatation, Malabsorption, Hydrocephalu...	OMIM:147920
Desmosterolosis	Ventriculomegaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Intestinal malrotation...	ORPHA:35107
Milroy Disease	Abnormal venous morphology, Varicose veins	ORPHA:79452
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Short distal phalanx of finger, Ventricular septal defect, Atrial septa...	OMIM:300963
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Micromelia	ORPHA:1035
Hajdu-Cheney Syndrome	Renal cyst, Polycystic kidney dysplasia, Ventricular septal defect, Hypospadias	OMIM:102500
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:615279
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology	ORPHA:31
Muenke Syndrome	Hydrocephalus, High, narrow palate	ORPHA:53271
Phace Syndrome	Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab...	ORPHA:42775
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenos...	OMIM:611812
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect, Recurrent pneum...	OMIM:616449
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Mitral stenosis, Delayed...	OMIM:617260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Macroglossia, Atrial septal defect, Hepatosplenomegaly, Hepatoblastoma...	ORPHA:96334
Loeys-Dietz Syndrome 1	Retrognathia, Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatati...	OMIM:609192
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Pulmonary hypoplasia, Pul...	OMIM:620025
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Perineal fistula, Anal atresia, Rectovaginal fistula, Rectal atresia	ORPHA:3016
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Abnormal heart morphology, Anal stenosis	OMIM:601499
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Failure to thrive, Partial agenesis of the corpus callosum, Tota...	OMIM:602398
Hec Syndrome	Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Hydronephrosis, Megacystis	OMIM:619431
Intellectual Disability, Buenos-Aires Type	Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:3079
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Atrial septal defect	OMIM:616938
Alg8-Cdg	Ventriculomegaly, Abnormality of the gastrointestinal tract, Small for gestational age, Leukodyst...	ORPHA:79325
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, Atrial septal defect, Peripheral pulmonary artery stenosis, Short thumb, Obstructiv...	ORPHA:436003
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Pulmonic stenosis, Atrial septal defect	OMIM:619239
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Genitopatellar Syndrome	Apnea, Multicystic kidney dysplasia, Atrial septal defect, Hydronephrosis	ORPHA:85201
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Weight loss, Villous atrophy, Hydrocephalus, Increased intestinal tran...	OMIM:619377
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Patent foramen ovale, Restrictive cardiomyopathy, Hypoplasia of teeth	ORPHA:88630
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating epithelioid cell granul...	ORPHA:227990
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Agenesis of corpus callosum	ORPHA:220497
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Narrow maxilla, Ventricular septal defect, Repeated pneumothoraces, Atrial ...	OMIM:617602
Mitochondrial Complex I Deficiency, Nuclear Type 21	Leukodystrophy, Increased CSF lactate	OMIM:618242
Lowry-Maclean Syndrome	Midgut malrotation, Atrioventricular canal defect, Pyloric stenosis, Hydrocephalus, Cleft palate,...	ORPHA:2409
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Atrial septal defect	ORPHA:896
Megalencephaly	Atrial septal defect	ORPHA:2477
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:3455
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Rhizomelia, Ventricular septal defect, Micrognathia, Abnormal lung l...	OMIM:614114
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Leukodystrophy, Ventriculomegaly	ORPHA:431361
Tay-Sachs Disease	Gliosis, Abnormal thalamic MRI signal intensity, Ventriculomegaly, Dysphagia	ORPHA:845
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect	ORPHA:79113
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Patent foramen ovale, Patent ductus arteriosus, Respiratory tract infection, Rhizome...	OMIM:607143
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker ...	OMIM:614424
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased CSF lactate, Failure to thrive, Leukodystrophy, Dysphagia	OMIM:618226
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Abnormal cardiac septum morphology, Bicuspid aortic val...	ORPHA:96169
Toluene Embryopathy	Abnormal localization of kidney, Hydronephrosis	ORPHA:1920
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Failure to thrive, Abnormal CNS myelination	ORPHA:477673
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of the liver, Small hand, Short ribs, Aplasia/Hypopl...	ORPHA:2911
Junctional Epidermolysis Bullosa With Pyloric Atresia	Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ...	ORPHA:79403
Alagille Syndrome	Ventricular septal defect, Micrognathia, Atrial septal defect, Hypoplasia of the ulna, Reduced nu...	ORPHA:52
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis	OMIM:613735
Orofaciodigital Syndrome Type 5	Bifid tongue, Cleft soft palate, Aganglionic megacolon, Bifid uvula, Tetralogy of Fallot, High, n...	ORPHA:2919
Autoimmune Polyendocrinopathy Type 3	Thymoma, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating epithelioid cell granul...	ORPHA:227982
Walker-Warburg Syndrome	Ventriculomegaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Dandy-Walker malformat...	ORPHA:899
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycorrhachia, Hydrocephalus, Left ventricular hypertrophy, Hypopituitarism, Increased CSF l...	ORPHA:90065
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Rere-Related Neurodevelopmental Syndrome	Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, CNS demyelination, Abnormal...	ORPHA:494344
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Microvesicular hepatic steatosis, Noncompaction cardiomyopathy, Atrial se...	OMIM:610198
Proteus-Like Syndrome	Bronchogenic cyst, Thymus hyperplasia, Splenomegaly, Venous insufficiency	ORPHA:2969
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Patent foramen ovale, Hydronephrosis	OMIM:619179
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Hydrocephalus, Dandy-Walker malformation, Atrial sep...	OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Erythrocytosis, Familial, 2	Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Stroke, Increased hemog...	OMIM:263400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Renal cyst	OMIM:614862
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Respirat...	ORPHA:3015
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Cerebral hypomyelination, Atrial septal defect	ORPHA:457351
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Atrial sept...	ORPHA:1860
Alkuraya-Kucinskas Syndrome	High palate, Ventriculomegaly, Pericardial effusion, Hydrocephalus, Dandy-Walker malformation	OMIM:617822
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect	ORPHA:75389
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Esophagitis, Achalasia, CNS hypomyelination	OMIM:615356
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Zaki Syndrome	Patent foramen ovale, Renal agenesis, Hydronephrosis	OMIM:619648
Acrorenal-Mandibular Syndrome	Aplasia of the bladder, Abnormality of the ureter, Renal agenesis, Polycystic kidney dysplasia	OMIM:200980
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Episodic tachypnea, Pericardial effusion, Jaundi...	ORPHA:26793
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	CNS demyelination, T2 hypointense thalamus	OMIM:618193
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Ventricular septal defect, Short foot, Delayed eruption of teeth, Pericardial effus...	OMIM:235510
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Patent foramen ovale, Ventricular septal defect, Small hand, Micrognathia, Short fi...	OMIM:270450
Tarp Syndrome	Tongue nodules, Abnormal duodenum morphology, Pulmonary hypoplasia, Atrial septal defect, Persist...	ORPHA:2886
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Hepatic fibrosis, Anemia, Bacterial endocarditis, Abnormal pulmonary ...	ORPHA:2072
Stromme Syndrome	Jejunal atresia, Hydrocephalus, Intestinal malrotation, Stillbirth, Cleft palate, Duodenal atresi...	OMIM:243605
Whipple Disease	Malabsorption, Hydrocephalus, Cachexia, Pericarditis, Gastrointestinal hemorrhage, Myocarditis	ORPHA:3452
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral hypomyelination, Dysphagia	ORPHA:496641
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,...	OMIM:121050
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Gastroesophageal reflux, Ventriculomegaly, Small for gestational age, Leukodystrophy, Failure to ...	OMIM:615471
Mosaic Variegated Aneuploidy Syndrome	Subvalvular aortic stenosis, Stomach cancer, Abnormal aortic morphology, Abnormal lung lobation, ...	ORPHA:1052
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Mandibular prognathia, Left superior vena cava draining to coronar...	OMIM:619143
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic...	OMIM:174000
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect	ORPHA:96190
Even-Plus Syndrome	Patent foramen ovale, Atrial septal defect	OMIM:616854
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Polycystic kidney dysplasia, Re...	OMIM:134780
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Atrial septal defect	OMIM:614526
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Short toe, Patent ductus arteriosus, Mandibular prognathia, Atrial septal d...	ORPHA:404443
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Central hypoventilation, Atrial septal defect	OMIM:611961
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Bicuspid aortic valve, Mandibular prognathia, Atrial septal defect	OMIM:619721
Leukodystrophy, Hypomyelinating, 16	Failure to thrive, Delayed CNS myelination, Leukodystrophy	OMIM:617964
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:618476
Erdheim-Chester Disease	Abnormal pericardium morphology, Dysuria, Abnormal aortic valve morphology, Pleural effusion, Dys...	ORPHA:35687
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,...	ORPHA:329224
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Clapo Syndrome	Varicose veins, Venous malformation, Lymphangioma	ORPHA:168984
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Respiratory insufficiency, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Adams-Oliver Syndrome 1	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, P...	OMIM:100300
Chromosome 18Q Deletion Syndrome	Patent ductus arteriosus, Mandibular prognathia, Absence of the pulmonary valve, Ventricular sept...	OMIM:601808
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cleft palate, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:1812
Pelizaeus-Merzbacher Disease, Classic Form	Cerebral hypomyelination	ORPHA:280219
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Tenorio Syndrome	Gastroesophageal reflux, Hydrocephalus, Macroglossia, Ventriculomegaly	OMIM:616260
Hamamy Syndrome	High palate, Atrial septal defect, Complete atrioventricular canal defect, Hypochromic anemia, Mi...	OMIM:611174
Tarp Syndrome	Tetralogy of Fallot, Horseshoe kidney, Hydronephrosis	OMIM:311900
Meckel Syndrome, Type 10	Renal cyst, Hypospadias, Micropenis	OMIM:614175
Cardiomyopathy, Familial Hypertrophic, 11	Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardiomyopathy, Subaortic ventri...	OMIM:612098
Allan-Herndon-Dudley Syndrome	Leukodystrophy, Delayed CNS myelination, Elevated circulating thyroid-stimulating hormone concent...	OMIM:300523
Apert Syndrome	Narrow palate, Ventriculomegaly, Ectopic anus, Esophageal atresia, Bifid uvula, Hydrocephalus, Cl...	ORPHA:87
16Q24.3 Microdeletion Syndrome	High palate, Ventricular septal defect, Ventriculomegaly, Dilated cardiomyopathy, Dysphagia, Colp...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Atrial septal defect	OMIM:301039
Mogs-Cdg	Retrognathia, Hypoventilation, Pulmonary edema, Left ventricular hypertrophy, Respiratory distres...	ORPHA:79330
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Gliosis, Ventriculomegaly, Truncal obesity	OMIM:301072
Genitopalatocardiac Syndrome	Cleft palate, Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:2075
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Vesicoureteral reflux, Patent foramen ovale, Hypoplasia of the bladder, Crossed fused renal ectop...	OMIM:300707
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Atrial septal de...	OMIM:617061
Scalp-Ear-Nipple Syndrome	Bifid uvula, Lateral ventricle dilatation, Cardiac myxoma	OMIM:181270
Constricting Bands, Congenital	Cleft palate, Abnormal lung lobation, Ectopia cordis	OMIM:217100
Combined Oxidative Phosphorylation Deficiency 13	Leukodystrophy, Increased CSF lactate	OMIM:614932
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroesophageal reflux, Ventriculomegaly, Lateral ventricle dilatation, Bifid uvula, Atrial sept...	ORPHA:500150
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Kabuki Syndrome 2	Atrioventricular canal defect, Dental malocclusion, Short 5th finger, Natal tooth, Micrognathia, ...	OMIM:300867
Pfeiffer Syndrome Type 2	High palate, Aqueductal stenosis, Hydrocephalus, Anal atresia, Intestinal malrotation, Cleft palate	ORPHA:93259
Holt-Oram Syndrome	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Secu...	OMIM:142900
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, High palate, Ventricular septal defect, Partial agenesis of the corpus call...	OMIM:620113
Isolated Sedoheptulokinase Deficiency	Abnormal CNS myelination, Ventriculomegaly, Steatorrhea	ORPHA:440713
Musculocontractural Ehlers-Danlos Syndrome	Pneumothorax, Abnormal heart valve morphology, Horseshoe kidney, Abnormal heart morphology, Nephr...	ORPHA:2953
Congenital Disorder Of Deglycosylation 1	Delayed myelination, Decreased body weight, Decreased CSF 5-hydroxyindolacetic acid concentration...	OMIM:615273
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale, Asthma, Hypoplasia of the maxilla, Epistaxis, Rec...	ORPHA:293939
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Braddock-Carey Syndrome 1	Aortic valve prolapse, Multicystic kidney dysplasia, Ventricular septal defect	OMIM:619980
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Crossed fused renal ectopia, Ventricular septal defect, Renal malrotation,...	OMIM:607323
Congenital Disorder Of Glycosylation, Type Iiw	Gastroesophageal reflux, Anemia, Elevated circulating alanine aminotransferase concentration, Pro...	OMIM:619525
Alazami Syndrome	Malar flattening, Sleep apnea, Atrial septal defect	ORPHA:319671
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Patent ductus arteriosus, Vascular dilatation, Abnormal cerebral vascular morpholog...	ORPHA:2637
Tyshchenko Syndrome	Pulmonic stenosis, Sleep apnea, Ventricular septal defect, Atrial septal defect	OMIM:615102
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Patent ductus arteriosus, Gastroesophageal reflux, Aortic arch aneurysm, Hi...	OMIM:135500
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus	OMIM:187600
Schuurs-Hoeijmakers Syndrome	Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo...	OMIM:615009
Mowat-Wilson Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Sub...	OMIM:235730
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, Ventricular septal defect, Micrognathia, Atrial septal defect, ...	OMIM:309520
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Patent foramen ovale, Hepatic fibrosis, Respiratory insufficiency, Pulmonary ar...	OMIM:620005
Cystic Echinococcosis	Asthma, Renal cyst, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Membranous nephropathy	ORPHA:400
Parkes Weber Syndrome	Vascular dilatation, Arteriovenous malformation, Cerebral arteriovenous malformation, Vascular to...	ORPHA:90307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Hydrocephalus, Macroglossia, Cleft palate, Agenesis of corpus ca...	OMIM:613150
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Mandibular prognathia, Pulmonic stenosis, Atrial septal defect	OMIM:611553
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation	OMIM:612918
Microform Holoprosencephaly	Cleft palate, Tetralogy of Fallot, Duodenal atresia	ORPHA:280200
Limb Body Wall Complex	Abnormality of the liver, Ventricular septal defect, Ectopia cordis, Atrial septal defect, Abnorm...	ORPHA:2369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hyperca...	OMIM:615398
Adult-onset autosomal dominant leukodystrophy (ADLD)	Leukodystrophy, Peripheral demyelination	DECIPHER:59
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Sleep apnea, Multicystic kidney dysplasia	OMIM:618829
Neonatal Lupus Erythematosus	Abnormal heart morphology, Hydrocephalus, Dilated cardiomyopathy	ORPHA:398124
Pontocerebellar Hypoplasia, Type 2A	Gliosis, Dysphagia	OMIM:277470
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Ureterocele, Ab...	ORPHA:158684
Brain-Lung-Thyroid Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Abnormal pulmonary interstitial morphology...	ORPHA:209905
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Micrognathia, Respiratory distress, Atrial septal defect, Malar flatte...	OMIM:610536
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, Jaundice, Microretrognathia, Hepatomegaly, Spleno...	OMIM:251290
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Pulmonary fibrosis	OMIM:611926
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Complete atrioventricular canal defect	ORPHA:476126
Schilder Disease	CNS demyelination, Increased CSF protein concentration, CSF pleocytosis	ORPHA:59298
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, High palate, Ventriculomegaly	OMIM:614969
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Mitral atresia, Small for gestational age, Bicuspid aortic valve, CNS demye...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomegaly, Recurrent ...	OMIM:619383
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventriculomegaly, Ventricular septal defect, Coronary artery fistula, Small for gestational age, ...	OMIM:620024
Neurodegeneration With Brain Iron Accumulation 7	Leukodystrophy, Dysphagia	OMIM:617916
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hydrocephalus	OMIM:259700
Shashi-Pena Syndrome	Retrognathia, Patent ductus arteriosus, Short metacarpal, Dilation of Virchow-Robin spaces, Atria...	OMIM:617190
Icf Syndrome	Malabsorption, Protruding tongue, Macroglossia, Communicating hydrocephalus	ORPHA:2268
Mannosidosis, Alpha B, Lysosomal	Delayed myelination, Macroglossia, Gliosis	OMIM:248500
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Hydrocephalus, Encephalocele	ORPHA:2318
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Delayed CNS myelination, Hydrocephalus, High palate	OMIM:618590
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mitochondrial Complex I Deficiency, Nuclear Type 4	Leukodystrophy, Increased CSF lactate	OMIM:618225
Renal Cysts And Diabetes Syndrome	Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,...	OMIM:137920
Igg4-Related Retroperitoneal Fibrosis	Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n...	ORPHA:49041
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Patent ductus arteriosus, Atrial septal defect, Limb undergrowth, Recurrent lower r...	OMIM:618005
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Anterior hypopituitarism...	ORPHA:91350
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Lethal Omphalocele-Cleft Palate Syndrome	Cleft palate, Hydrocephalus, Bifid uvula, Cleft soft palate	ORPHA:2736
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Anal atresia, Agenesis of corpus callosum	ORPHA:3301
Metachromatic Leukodystrophy Due To Saposin B Deficiency	CNS demyelination, Peripheral demyelination, Dysphagia	OMIM:249900
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Hydrocephalus, Demyelinating peripheral neuropathy	ORPHA:220295
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal v...	OMIM:616028
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Micrognathia, Atr...	OMIM:619720
17Q23.1Q23.2 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal def...	ORPHA:261279
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis	OMIM:615926
Craniofacial Microsomia	Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta, ...	OMIM:164210
Coach Syndrome 1	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ...	OMIM:216360
Tetrasomy 5P	Failure to thrive, Hydrocephalus, High palate	ORPHA:3309
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Atrial septal defect, Shor...	OMIM:220500
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Mitral valve prolapse, Hydronephrosis	OMIM:104350
Doors Syndrome	Gastroesophageal reflux, Double outlet right ventricle, High palate, Narrow palate, Aspiration pn...	ORPHA:79500
Khan-Khan-Katsanis Syndrome	Vesicoureteral reflux, Patent foramen ovale, Renal cyst, Renal hypoplasia, Sleep apnea, Ureteral ...	OMIM:618460
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate	OMIM:616294
Coffin-Siris Syndrome	Patent ductus arteriosus, Aspiration pneumonia, Ventricular septal defect, Atrial septal defect, ...	ORPHA:1465
Hepatocellular Carcinoma	Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Esophageal varix, El...	ORPHA:88673
Leukodystrophy, Hypomyelinating, 17	Leukodystrophy	OMIM:618006
Trisomy 8P	Abnormal atrioventricular connection, Malrotation of small bowel, Aplasia/Hypoplasia of the gallb...	ORPHA:264450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic ...	ORPHA:453499
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Splenomegaly, Recurrent bronchopulmonary infections, Respiratory distre...	OMIM:617303
47,Xyy Syndrome	Increased circulating gonadotropin level, Oligospermia, Hydrocephalus, Azoospermia	ORPHA:8
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Exertional dyspnea, Right ventricular dilatation, Unroofed coron...	ORPHA:99104
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ...	OMIM:618454
Neurodegeneration With Brain Iron Accumulation 2A	Gliosis	OMIM:256600
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior...	ORPHA:54595
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Respiratory distress, Horseshoe kidney, Tracheomalacia, Hydronephrosis	ORPHA:93260
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary c...	OMIM:613159
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:395
Congenital Sialidosis Type 2	Abnormal heart morphology, Protruding tongue, Hydrocephalus	ORPHA:93400
Bdv Syndrome	Micrognathia, Atrial septal defect	OMIM:619326
Joubert Syndrome 2	High palate, Encephalocele, Hydrocephalus, Failure to thrive, Enlarged fossa interpeduncularis	OMIM:608091
Beare-Stevenson Cutis Gyrata Syndrome	High palate, Narrow palate, Ventriculomegaly, Bifid uvula, Hydrocephalus, Anteriorly placed anus,...	OMIM:123790
Epilepsy, Early-Onset, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Diaphanospondylodysostosis	Respiratory insufficiency, Enlarged kidney, Cystic renal dysplasia, Respiratory distress, Nephrog...	OMIM:608022
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Vesicoureteral reflux, Renal dysplasia, Bladder trabeculation, Ureteral hypoplasia, Atrial septal...	OMIM:614080
Floating-Harbor Syndrome	Atrial septal defect, Coarctation of aorta, Mesocardia, Celiac disease, Persistent left superior ...	OMIM:136140
Takenouchi-Kosaki Syndrome	Abnormal cardiac septum morphology, Unilateral renal agenesis, Hypospadias, Pulmonic stenosis, Hy...	OMIM:616737
Trisomy 20P	Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal...	ORPHA:261318
Opitz Gbbb Syndrome	Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ...	ORPHA:2745
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormal cardiac septum morphology, Abnormality of the ureter, Abnormal lo...	ORPHA:1225
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Ventricular septal defect, Atrial septal defect	OMIM:617452
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Ventricular septal defect, Hypospadias, Albuminuria, Neonatal respiratory distress...	OMIM:214100
Fanconi Anemia	Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Hypertrophic cardiomyopat...	ORPHA:84
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Ventricular septal defect, Dilation of Virchow-Robin spaces, Short finger,...	OMIM:300998
Buratti-Harel Syndrome	Recurrent pneumonia, Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Proximal Spinal Muscular Atrophy	Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to...	ORPHA:70
Opitz-Kaveggia Syndrome	Narrow palate, Pyloric stenosis, Hydrocephalus, Anal atresia, Intestinal malrotation, Anteriorly ...	OMIM:305450
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Gaucher Disease, Type Iiic	Mitral stenosis, Hydrocephalus, Cardiomegaly, Aortic valve calcification, Mitral valve calcification	OMIM:231005
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cleft palate, Hydrocephalus, Encephalocele, Abnormal heart morphology	ORPHA:1865
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Mucopolysaccharidosis Type 2	Abnormal aortic morphology, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology...	ORPHA:580
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Maxillozygomatic hypoplasia, Recurrent respiratory infections, Atrial s...	ORPHA:1790
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Bifid uvula, Ascending aortic dissectio...	OMIM:613795
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Livedoid Vasculopathy	Anemia, Ischemic stroke, Abnormal capillary morphology, Polycythemia, Pancytopenia, Venous insuff...	ORPHA:542643
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Cleft palate, Hydrocephalus, Encephalocele	OMIM:224400
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center, Pleural effusion, Varicose veins	ORPHA:90186
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Hydranencephaly, Microglossia, Cleft palate	ORPHA:2839
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Patent foramen ovale, Enamel hypoplasia, Tracheobronchomalacia, Atrial septal d...	OMIM:619184
Varicose Veins	Varicose veins	OMIM:192200
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
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
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Panhypopituitarism, Median cleft lip and palate, Loba...	OMIM:610828
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Aspiration pneumonia, Left ventricular hypertrophy, Dilated cardiomyopathy,...	OMIM:619167
Combined Oxidative Phosphorylation Defect Type 23	Leukodystrophy, Left ventricular hypertrophy, Failure to thrive, Hypertrophic cardiomyopathy, Abn...	ORPHA:444013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa...	OMIM:614643
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Ana...	ORPHA:63259
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Lateral ventricle dilatation, Weight loss...	ORPHA:2388
Hurler Syndrome	Endocardial fibroelastosis, Abnormal CNS myelination, Hydrocephalus, Macroglossia, Cardiomyopathy	OMIM:607014
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag...	OMIM:614527
Thrombocytopenia-Absent Radius Syndrome	Patent ductus arteriosus, Pancreatic cysts, Anemia, Atrioventricular canal defect, Ventricular se...	OMIM:274000
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Leukodystrophy, Hypomyelinating, 3	Failure to thrive, Leukodystrophy, Sudanophilic leukodystrophy	OMIM:260600
Alg9-Cdg	Hypoplasia of the bladder, Ventricular septal defect, Asthma, Enlarged kidney, Abnormal left vent...	ORPHA:79328
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Wiedemann-Steiner Syndrome	Patent ductus arteriosus, Short toe, Short 5th finger, Small hand, Micrognathia, Atrial septal de...	OMIM:605130
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven...	ORPHA:1855
White-Sutton Syndrome	Patent ductus arteriosus, Patent foramen ovale, Mandibular prognathia, Micrognathia, Atrial septa...	OMIM:616364
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Delayed CNS myelination, CNS demyelination	OMIM:619653
Roberts Syndrome	Polycystic kidney dysplasia, Long penis	ORPHA:3103
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valv...	OMIM:617660
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Respiratory distress, Atrial septal defect, Renal dysplasia	OMIM:300968
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Hydrocephalus, Intestinal pseudo-obstruction, Macroglossia	OMIM:309900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Gastroesophageal reflux, Neonatal death, Hydrocephalus	OMIM:616482
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Ventricular septal defect, Atrial septal defect	ORPHA:505237
Frontometaphyseal Dysplasia 1	Hydroureter, Mitral valve prolapse, Stridor, Cor pulmonale, Hydronephrosis	OMIM:305620
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Abnormal CNS myelination, High palate, Increased CSF lactate	OMIM:619053
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Patent foramen ovale, Short toe, Patent ductus arteriosus, Ventricular...	OMIM:269860
1P36 Deletion Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, Aortic arch aneurysm, Abnormality of the liver...	ORPHA:1606
Peroxisome Biogenesis Disorder 8B	Failure to thrive, Leukodystrophy, Peripheral demyelination, Dysphagia	OMIM:614877
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, Mitral valve prolapse, Atrial septal defect	OMIM:300986
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Patent foramen ovale, Vascular dilatation, Micrognathia, Tracheomalacia, Pulmonary ...	OMIM:613177
Osteopathia Striata With Cranial Sclerosis	Gastroesophageal reflux, High palate, Ventricular septal defect, Bifid uvula, Hydrocephalus, Anal...	OMIM:300373
Dpagt1-Cdg	Failure to thrive, CNS hypomyelination	ORPHA:86309
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Rhizomelia, Allergic rhinitis, Asthma, Atrial septal defect, Mesomelia,...	OMIM:618162
Teebi-Shaltout Syndrome	Ventricular septal defect, Ureteral stenosis, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Bohring-Opitz Syndrome	Retrognathia, Short toe, Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Microgn...	OMIM:605039
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Vacterl With Hydrocephalus	Aqueductal stenosis, Esophageal atresia, Spina bifida, Arrhinencephaly, Hydrocephalus, Anal atres...	ORPHA:3412
Progressive Supranuclear Palsy	Gliosis, Dysphagia	ORPHA:683
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Malar flattening, Atrial septal defect	OMIM:602482
Marfanoid-Progeroid-Lipodystrophy Syndrome	High palate, Mitral valve prolapse, Hydrocephalus, Lateral ventricular asymmetry, High, narrow pa...	OMIM:616914
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph...	ORPHA:276280
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, ...	ORPHA:230851
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Micropenis, Hydronephrosis	OMIM:235255
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Aplasia of the epiglottis, Coarctation o...	OMIM:617088
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Abnormal heart morphology, Mandibular prognathia, Ventricular septal defect	ORPHA:369891
Mucopolysaccharidosis Type 2, Severe Form	Abnormal aortic morphology, Increased size of nasopharyngeal adenoids, Abnormal mitral valve morp...	ORPHA:217085
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, High palate	ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Micropenis, Hydronephrosis	OMIM:617798
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cleft palate, Hydrocephalus, Narrow palate, Anteriorly placed anus	ORPHA:1555
Crouzon Syndrome	Hydrocephalus, High palate	OMIM:123500
Fetal Alcohol Syndrome	Micrognathia, Atrial septal defect	ORPHA:1915
Aicardi-Goutieres Syndrome 5	Leukodystrophy, CSF lymphocytic pleiocytosis	OMIM:612952
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Hydroureter, Multicystic kidney dysplasia, Megacystis	ORPHA:2241
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney, Ventricular septal defect	ORPHA:166035
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal aortic morphology, Increased size of nasopharyngeal adenoids, Abnormal mitral valve morp...	ORPHA:217093
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c...	ORPHA:18
Cardiofaciocutaneous Syndrome	High palate, Abnormality of the gastrointestinal tract, Functional abnormality of the gastrointes...	ORPHA:1340
Lateral Meningocele Syndrome	Meningocele, High palate, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Cleft ...	OMIM:130720
Koolen-De Vries Syndrome	Vesicoureteral reflux, Ventricular septal defect, Recurrent urinary tract infections, Bicuspid ao...	OMIM:610443
46,Xy Sex Reversal 4	Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia	OMIM:154230
Autosomal Recessive Robinow Syndrome	Abnormal aortic morphology, Bifid tongue, Ventricular septal defect, Ectopic anus, Recurrent resp...	ORPHA:1507
Micro Syndrome	Hypoplasia of penis, Abnormal localization of kidney, Hydronephrosis	ORPHA:2510
Lhermitte-Duclos Disease	Hydrocephalus, Macroglossia	ORPHA:65285
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Abnormal cardiac septum morphology, Hydrocephalus, Anal atresia, Intestinal malrot...	ORPHA:2166
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal cardiac septum morphology, Rena...	ORPHA:2092
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Leukodystrophy, Ventriculomegaly	ORPHA:370997
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal hear...	ORPHA:90652
Jacobsen Syndrome	Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Atrial septal defect, Failure to thri...	OMIM:147791
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Abnormal CNS myelination	OMIM:619641
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Delayed CNS myelination, Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Neonatal asphyxia, Hypoplasia of teeth, Atrial septal defect	ORPHA:2728
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	11 pairs of ribs, Patent foramen ovale, Aortic root aneurysm, Rhizomelia, Bicuspid aortic valve, ...	OMIM:245600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Abnormal renal morphology, Micropenis, Hydronephrosis	ORPHA:1655
Granulomatosis With Polyangiitis	Respiratory insufficiency, Glomerulopathy, Hematuria, Chronic pulmonary obstruction, Epistaxis, P...	ORPHA:900
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ...	OMIM:616368
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Median cleft palate	OMIM:612651
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	High palate, Aqueductal stenosis, Hydrocephalus, Atrial septal defect, Failure to thrive, Delayed...	OMIM:619512
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Hydrocephalus	OMIM:619951
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, Delayed CNS myelinati...	OMIM:614083
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	OMIM:613603
Meckel Syndrome, Type 6	Cleft palate, Anencephaly, Hydrocephalus, Occipital encephalocele	OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Hydrocephalus, Anal atresia, Meningoencephalocele, Dandy-Walker malformation, C...	OMIM:236670
Intellectual Disability-Strabismus Syndrome	Patent ductus arteriosus, Micrognathia, Atrial septal defect	ORPHA:363528
Lymphangioleiomyomatosis	Pneumothorax, Renal angiomyolipoma, Hematuria, Chylopericardium, Emphysema, Renal neoplasm, Abnor...	ORPHA:538
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho...	ORPHA:449395
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Hydrocephalus, Ventricular septal defect, Agenesis of corpus callosum	ORPHA:268249
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Congenital megaureter, Renal dysplasia, Central sleep apnea, Atrial s...	ORPHA:369837
Eisenmenger Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Abnormality of t...	ORPHA:97214
Glomuvenous Malformation	Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation	ORPHA:83454
Xeroderma Pigmentosum, Complementation Group B	Abnormal CNS myelination, Ventriculomegaly	OMIM:610651
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Micrognathia, Mitral valve prolapse, Atrial septal defect, Splenomegaly	ORPHA:251066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Aor...	ORPHA:464311
Congenital Myopathy 17	Respiratory insufficiency, Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:618975
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Congenital megaureter, Recurrent aspiratio...	ORPHA:280633
Noonan Syndrome 13	Micrognathia, Mitral valve prolapse, Atrial septal defect	OMIM:619087
Campomelic Dysplasia	Respiratory insufficiency, Tracheomalacia, Tracheobronchomalacia, Hydronephrosis	ORPHA:140
Kaposiform Lymphangiomatosis	Pancreatic cysts, Pericardial effusion, Enlarged kidney, Pleural effusion, Epistaxis, Dyspnea, Co...	ORPHA:464329
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, CNS demyelination, Abnormal c...	ORPHA:217260
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Communicating hydrocephalus, Ventriculomegaly, Dysphagia	ORPHA:25
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Mucopolysaccharidosis Type 1	Malabsorption, Hydrocephalus, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Abno...	ORPHA:579
Ulbright-Hodes Syndrome	Pneumothorax, Polycystic kidney dysplasia, Respiratory distress, Renal hypoplasia, Respiratory fa...	ORPHA:3404
Mohr Syndrome	Lobulated tongue, High palate, Bifid tongue, Tongue nodules, Hydrocephalus, Cleft palate	OMIM:252100
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy	OMIM:602579
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis	ORPHA:568
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Abnormal heart valve morphology, Macroglossia, Cardiomyopathy	OMIM:253220
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Ureterovesical stenosis, Nephroblastoma, Horseshoe kidney, Abnor...	ORPHA:314585
Diamond-Blackfan Anemia 1	11 pairs of ribs, Retrognathia, Absent thumb, Ventricular septal defect, Hypoplasia of the radius...	OMIM:105650
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Transient neutrop...	OMIM:617107
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Glossitis, Dilated cardiomyopathy, Failure to thrive, Abnormal heart morphology, S...	ORPHA:79282
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Shortening of all distal phalanges of the fingers, Peripheral pulmonary artery stenosis, Atrial s...	OMIM:614749
Alexander Disease	High palate, Aqueductal stenosis, Hydrocephalus, Failure to thrive, Dysphagia, Agenesis of corpus...	ORPHA:58
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Short palm, Ventricular septal defect, Atrial septal defect	ORPHA:254346
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Leukodystrophy, Delayed CNS myelination	OMIM:618688
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Small hand, Bicuspid aorti...	OMIM:610759
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Anencephaly, Hydrocephalus, Atrial septal defect	OMIM:616546
Hereditary Late-Onset Parkinson Disease	Gliosis, Weight loss, Dysphagia	ORPHA:411602
Alveolar Echinococcosis	Pancreatic cysts, Abnormal pericardium morphology, Renal cyst, Abnormality of bladder morphology,...	ORPHA:284
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Malar flattening, Short distal phalanx of toe, Atrial septal defect, Abnormal mitral valve morpho...	ORPHA:1292
Holoprosencephaly	Failure to thrive in infancy, Gastroesophageal reflux, Spinal dysraphism, Encephalocele, Ventricu...	ORPHA:2162
Al Kaissi Syndrome	Small hand, Atrial septal defect	OMIM:617694
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, High palate, Hydrocephalus, Submucous cleft hard palate, Atrial septal d...	OMIM:115150
Joubert Syndrome 21	Apnea, Hyperechogenic kidneys, Renal cyst, Dyspnea	OMIM:615636
Kapur-Toriello Syndrome	Patent ductus arteriosus, Short thumb, Ventricular septal defect, Atrial septal defect	OMIM:244300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Atrial septal defect	OMIM:207410
Kabuki Syndrome	Crossed fused renal ectopia, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypopl...	ORPHA:2322
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Absent thumb, Hypoplasia of the radius, Atrial septal defect, Short thu...	OMIM:603467
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Cerebrooculonasal Syndrome	High palate, Narrow palate, Encephalocele, Ventriculomegaly, Hydrocephalus, Cleft palate, Dandy-W...	OMIM:605627
Leopard Syndrome 1	Subvalvular aortic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy, Complete atriove...	OMIM:151100
Marshall-Smith Syndrome	Retrognathia, Short sternum, Pulmonary arterial hypertension, Patent ductus arteriosus, Aspiratio...	OMIM:602535
15Q14 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:261190
Kaufman Oculocerebrofacial Syndrome	Ventricular septal defect, Micrognathia, Atrial septal defect, Coarctation of aorta, Carious teet...	OMIM:244450
Monosomy 13Q34	Micrognathia, Hepatic steatosis, Epistaxis, Common atrium, Pulmonic stenosis	ORPHA:96168
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Atrial septal defect	OMIM:615879
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Small for gestational age, Hydrocephalus, Tracheoesophageal fistula, Abnormal...	OMIM:227646
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Aor...	ORPHA:464306
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Cerebrotendinous Xanthomatosis	CNS demyelination, Hypermyelinated retinal nerve fibers, Myelopathy, Gliosis, Abnormal atrial sep...	ORPHA:909
Shprintzen-Goldberg Syndrome	Gastroesophageal reflux, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Ab...	ORPHA:2462
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Respiratory dist...	ORPHA:505248
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, Micrognathia, Atrial septal defect	OMIM:609625
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Rectal abscess, Myeloschisis, Dermal sinus tract	OMIM:600145
Arachnoid Cyst	Holoprosencephaly, Hydrocephalus, Encephalocele, Enlarged fossa interpeduncularis	ORPHA:2356
Late-Infantile/Juvenile Krabbe Disease	Neuromuscular dysphagia, Abnormal CNS myelination, Increased CSF protein concentration	ORPHA:206443
Hydrolethalus Syndrome 1	Ventricular septal defect, Abnormal lung lobation, Complete atrioventricular canal defect, Access...	OMIM:236680
7Q11.23 Microduplication Syndrome	Enuresis, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect, Hypospadias...	ORPHA:96121
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Short ribs, Atrial septal defect, Hypoplastic vertebral bodies	ORPHA:2347
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect	OMIM:613706
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concen...	OMIM:101800
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus, Decreased thalamic volume, Delayed myelination	ORPHA:168577
Monosomy 9Q22.3	Cardiac fibroma, Hydrocephalus, Large for gestational age, Ventriculomegaly	ORPHA:77301
Cranioectodermal Dysplasia 2	Retrognathia, Patent foramen ovale, Biliary cirrhosis, Patent ductus arteriosus, Rhizomelia, Shor...	OMIM:613610
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Secundum atrial septal defect, Short foot, Recurrent respiratory infections	OMIM:619758
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis	OMIM:606688
Mend Syndrome	High palate, Hydrocephalus, Failure to thrive, Abnormal heart morphology, Aortic valve stenosis, ...	ORPHA:401973
Robinow Syndrome	Marked delay in eruption of permanent teeth, Dental malocclusion, Pulmonary valve atresia, Ventri...	ORPHA:97360
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Pneumothorax, Pulmonary bleb, Nodular pattern on pulmonary HRCT, Repeated pneumothoraces,...	OMIM:130050
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney, Ventricular septal defect	OMIM:250410
Loeys-Dietz Syndrome 5	Retrognathia, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, Ascending ao...	OMIM:615582
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Anemia, Vulval varicose vein, Renal artery stenosis, Varicose veins	ORPHA:71273
Ellis-Van Creveld Syndrome	Natal tooth, Short ribs, Delayed eruption of teeth, Atrial septal defect, Common atrium	OMIM:225500
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect	ORPHA:1519
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Glycogen Storage Disease Of Heart, Lethal Congenital	Pericardial effusion, Hydrocephalus, Macroglossia, Hypertrophic cardiomyopathy, Biventricular hyp...	OMIM:261740
Omodysplasia 1	Short tibia, Ventricular septal defect, Rhizomelia, Micrognathia, Atrial septal defect, Hypoplast...	OMIM:258315
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Hypertrophic cardiomyopathy, Delayed CNS myelination, Gliosis, Neonatal death	OMIM:124000
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Gliosis	ORPHA:3240
Angioosteohypertrophic Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Tricuspid valve prolapse, Venous i...	ORPHA:2346
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Hydrocephalus, Failure to thrive, Cleft palate, Agenesis...	ORPHA:137675
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hydrocephal...	OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Dandy-Walker malformat...	OMIM:615287
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Leukodystrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Increased CSF glycine concen...	OMIM:614299
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly, Stillbirth	OMIM:259720
Cerebellar-Facial-Dental Syndrome	Mitral valve prolapse, Ureteropelvic junction obstruction, Ventricular septal defect, Hydronephrosis	ORPHA:444072
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Nephrotic syndrome, Pericardial effusion, Renal cyst, Pericarditis, Protein...	OMIM:212065
Waardenburg Syndrome, Type 2E	Cerebral hypomyelination	OMIM:611584
Hurler Syndrome	Endocardial fibroelastosis, Hydrocephalus, Macroglossia, Abnormal heart valve morphology, Cardiom...	ORPHA:93473
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis	ORPHA:1358
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Atrial septal defect, Hepatosplenomegaly	ORPHA:397709
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula...	OMIM:615474
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Gastroesophageal reflux, High palate, Failure to thrive, Colpocephaly	OMIM:620083
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Semilobar Holoprosencephaly	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, High palate, De...	ORPHA:220386
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Alobar Holoprosencephaly	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, High palate, De...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, High palate, De...	ORPHA:93926
Lobar Holoprosencephaly	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, High palate, De...	ORPHA:93924
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Leukodystrophy	OMIM:277580
Distal 22Q11.2 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Recurrent respiratory infections, Aortic aneurysm,...	ORPHA:261330
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome	ORPHA:110
Menkes Disease	Vascular dilatation, Abnormal carotid artery morphology, Malabsorption, Intracranial hemorrhage, ...	ORPHA:565
Aicardi-Goutieres Syndrome 1	Multiple gastric polyps, CNS demyelination, CSF lymphocytic pleiocytosis, Increased CSF interfero...	OMIM:225750
Full Nf2-Related Schwannomatosis	Astrocytoma, Ependymoma, Hydrocephalus, Myelopathy, Dysphagia, Glioma	ORPHA:637
Medulloblastoma	Hydrocephalus, Adenomatous colonic polyposis	ORPHA:616
Visceral Myopathy 1	Vesicoureteral reflux, Hydronephrosis, Urinary retention, Megacystis	OMIM:155310
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Astrocytosis, Gliosis, Increased CSF protein concentration	OMIM:203700
Fibrochondrogenesis 1	Patent foramen ovale, Short foot, Rhizomelia, Short ribs, Small hand, Posterior vertebral hypopla...	OMIM:228520
Oculoectodermal Syndrome	Patent ductus arteriosus, Transient ischemic attack, Giant cell granuloma of mandible, Atrial sep...	OMIM:600268
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Hydronephrosis	ORPHA:254528
Parkinson Disease 1, Autosomal Dominant	Gliosis, Dysphagia	OMIM:168601
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ...	OMIM:109400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Patent foramen ovale, Pelvic kidney, Micropenis, Hydronephrosis	OMIM:618653
Childhood-Onset Spasticity With Hyperglycinemia	Leukodystrophy, Left ventricular hypertrophy	ORPHA:401866
Oligomeganephronia	Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia, Pulmonary venous occlusion	ORPHA:2260
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Achalasia, Decreased response to growth hormone stimulation test	OMIM:616007
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag...	ORPHA:93111
Robinow Syndrome, Autosomal Dominant 3	Patent ductus arteriosus, Patent foramen ovale, Dental malocclusion, Ventricular septal defect, H...	OMIM:616894
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis	OMIM:617913
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Ascending tubular aorta aneurysm, Pneumothorax, Hypoplastic right heart, Atrial sep...	OMIM:617403
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries	ORPHA:2869
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation	ORPHA:722
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Respiratory distress, Aspir...	OMIM:618733
Shprintzen-Goldberg Craniosynostosis Syndrome	Gastroesophageal reflux, High palate, Narrow palate, Mitral valve prolapse, Hydrocephalus	OMIM:182212
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Neoplasm of the liver, Hydrocephalus	ORPHA:1454
Cerebrocostomandibular Syndrome	11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Micrognathia, Atrial septa...	OMIM:117650
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Central sleep apnea, Ventricular septal defect, Atrial septal defect	OMIM:617360
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Bifi...	OMIM:270400
Turner Syndrome Due To Structural X Chromosome Anomalies	Hepatic fibrosis, Aortic arch aneurysm, Biliary cirrhosis, Cirrhosis, High palate, Bicuspid aorti...	ORPHA:99413
Mosaic Monosomy X	Hepatic fibrosis, Aortic arch aneurysm, Biliary cirrhosis, Cirrhosis, High palate, Bicuspid aorti...	ORPHA:99228
Monosomy X	Hepatic fibrosis, Aortic arch aneurysm, Biliary cirrhosis, Cirrhosis, High palate, Bicuspid aorti...	ORPHA:99226
Turner Syndrome	Hepatic fibrosis, Aortic arch aneurysm, Biliary cirrhosis, Cirrhosis, High palate, Bicuspid aorti...	ORPHA:881
Fryns Syndrome	Ventricular septal defect, Renal agenesis, Atrial septal defect, Renal cyst, Hypospadias, Chyloth...	OMIM:229850
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Single ventricle, Unilateral renal agenesis, Abnormal cardiac septum morphology, Hydronephrosis	OMIM:308050
Multiple Sclerosis, Susceptibility To	CNS demyelination	OMIM:126200
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Truncus arteriosus, Short thumb, Abnormal lung lobation, Atrial septal defect,...	ORPHA:2538
Raine Syndrome	High palate, Hydrocephalus, Protruding tongue, Cleft palate, Neonatal death	OMIM:259775
Myhre Syndrome	Respiratory insufficiency, Short toe, Patent ductus arteriosus, Mandibular prognathia, Ventricula...	OMIM:139210
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Trisomy 18	Abnormality of the upper urinary tract, Ventricular septal defect, Atrial septal defect, Hydronep...	ORPHA:3380
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Ramos-Arroyo Syndrome	Carious teeth, Respiratory distress, Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Duodenal Neuroendocrine Tumor	Bronchospasm, Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis	ORPHA:100076
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Respiratory insufficiency, Pancreatic cysts, Nephritis, Renal cyst, Proteinuria, Renal insufficie...	OMIM:208500
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Moderate albuminuria, Hydronephrosis	OMIM:619269
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Holoprosencephaly, Ileal atresia, Dysplastic corpus callosum, Agenesis of corpus...	OMIM:618820
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Hydrocephalus	OMIM:277400
Distal Monosomy 6P	Short foot, Micrognathia, Atrial septal defect, Malar flattening, Short palm	ORPHA:96125
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,...	OMIM:609942
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Sturge-Weber Syndrome	Hydrocephalus, Dysphagia	ORPHA:3205
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele	ORPHA:261265
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Recurrent urinary tract infections, Hypoplasia of penis, Hydronephrosis	ORPHA:847
H Syndrome	Malabsorption, Hydrocephalus, Azoospermia	ORPHA:168569
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Cockayne Syndrome	Gastroesophageal reflux, Patchy demyelination of subcortical white matter, Demyelinating peripher...	ORPHA:191
Codas Syndrome	Enamel hypoplasia, Atrioventricular canal defect, Ventricular septal defect, Short metacarpal, De...	OMIM:600373
Simpson-Golabi-Behmel Syndrome	Nephroblastoma, Cardiomyopathy, Multicystic kidney dysplasia, Ventricular septal defect, Hydroure...	ORPHA:373
Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Ascending tubular aorta aneurysm, Short femoral neck, Pulmonic stenosi...	ORPHA:536471
Mend Syndrome	High palate, Hydrocephalus, Failure to thrive, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Mesomelic leg shortening, Short toe, Patellar hypoplasia, Hand monodactyly, Short metacarpal, Apl...	OMIM:609945
Mucopolysaccharidosis Type 3	Ventriculomegaly, Abnormal mitral valve morphology, Malabsorption, Hydrocephalus, Abnormal aortic...	ORPHA:581
Koolen-De Vries Syndrome Due To A Point Mutation	Vesicoureteral reflux, Renal duplication, Cardiomyopathy, Ventricular septal defect, Recurrent ur...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Vesicoureteral reflux, Renal duplication, Cardiomyopathy, Ventricular septal defect, Recurrent ur...	ORPHA:363958
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Ventricular septal defect, Renal cyst, Reduced renal corticomedullary diff...	OMIM:122470
Van Esch-O'Driscoll Syndrome	Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Pulmonary...	OMIM:301030
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Cockayne Syndrome Type 3	Cardiomyopathy, Urinary retention, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Re...	ORPHA:90324
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Ventricular septal defect, Nocturnal hypoventilation, Bicuspid aortic valv...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Ventricular septal defect, Nocturnal hypoventilation, Bicuspid aortic valv...	ORPHA:352665
Cousin Syndrome	Cleft palate, Microglossia, Hydrocephalus, Hydranencephaly	OMIM:260660
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Leukodystrophy	OMIM:619224
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Multicystic kidney dysplasia, Ventricular septal defect, Renal hyp...	ORPHA:818
Sjogren-Larsson Syndrome	CNS demyelination	OMIM:270200
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Patent foramen ovale, Patent ductus arteriosus, Concentric hypertrophi...	OMIM:610505
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Mitral valve prolapse, Ureteral stenosis, Tricuspid valve prolap...	OMIM:309350
Neurofibromatosis, Type I	Astrocytoma, Aqueductal stenosis, Spina bifida, Hydrocephalus, Optic nerve glioma	OMIM:162200
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Gastroesophageal reflux, Cerebral hypomyelination, Dysphagia	ORPHA:447997
Oeis Complex	Vesicovaginal fistula, Hydroureter, Renal agenesis, Epispadias, Duplicated collecting system, Pel...	OMIM:258040
Ileal Neuroendocrine Tumor	Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis	ORPHA:100078
Jejunal Neuroendocrine Tumor	Pulmonic stenosis, Tricuspid stenosis, Hydronephrosis	ORPHA:100077
Joubert Syndrome 1	Neonatal breathing dysregulation, Episodic tachypnea, Renal cyst, Nephropathy, Central apnea	OMIM:213300
Meningioma	Enlarged pituitary gland, Neoplasm of the tongue, Increased circulating prolactin concentration, ...	ORPHA:2495
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal defect,...	ORPHA:3047
Aymé-Gripp Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, Pericarditis, Cleft palate	ORPHA:1272
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Microgn...	ORPHA:3472
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis	ORPHA:2995
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Patent foramen ovale, Hypoventilation, Aspiration pneumonia, Ventricular s...	ORPHA:438213
Harrod Syndrome	Hypospadias, Multicystic kidney dysplasia	ORPHA:2115
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polycystic kidney dysplasia, Long penis, Atrial septal defect, Hypospa...	OMIM:268300
Costello Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Mitral...	OMIM:218040
Marchiafava-Bignami Disease	CNS demyelination, Increased CSF protein concentration	ORPHA:221074
Tuberous Sclerosis 1	Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Cardiac rhabdomyoma	OMIM:191100
Schinzel-Giedion Syndrome	Nephroblastoma, Respiratory distress, Renal cyst, Recurrent pneumonia, Abnormality of the ureter,...	ORPHA:798
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Short phal...	OMIM:614609
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Patent foramen ovale, Delayed myelination, Colpocephaly	ORPHA:477993
Hyperparathyroidism, Transient Neonatal	Gastroesophageal reflux, Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Achondroplasia	Hydrocephalus	OMIM:100800
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Large for gestational age, Ventriculomegaly	OMIM:617011
Dubowitz Syndrome	High palate, Malabsorption, Hydrocephalus, Submucous cleft hard palate, Spina bifida occulta, Rec...	ORPHA:235
Larsen Syndrome	Ventricular septal defect, Short metacarpal, Aortic aneurysm, Tracheomalacia, Atrial septal defec...	OMIM:150250
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Abetalipoproteinemia	Fat malabsorption, CNS demyelination, Peripheral demyelination	OMIM:200100
3Mc Syndrome 1	Ventricular septal defect, Atrial septal defect, Hydronephrosis	OMIM:257920
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hypospadias, Abnormal heart morphology, Total anomalous pulmonary veno...	ORPHA:487796
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Ventricular septal defect, Renal hypoplasia/aplasia, Mitral valve prolapse,...	ORPHA:363700
Leukodystrophy, Hypomyelinating, 4	Leukodystrophy	OMIM:612233
Bent Bone Dysplasia Syndrome 2	Short tibia, Short sternum, Short 1st metacarpal, Short ribs, Short lower limbs, Atrial septal de...	OMIM:620076
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Atrioventricular canal defect, Primum atrial septal defect, Inle...	OMIM:600309
Tuberous Sclerosis 2	Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Absence of renal corticomedullar...	OMIM:613254
Mody	Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria	ORPHA:552
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cleft palate, Tetralogy of Fallot	ORPHA:306542
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Micrognathia, Peritonitis, Portal inflammation, Hepatic steatosis, H...	OMIM:619991
Turnpenny-Fry Syndrome	Short sternum, Dental malocclusion, Patent ductus arteriosus, Mandibular prognathia, Small hand, ...	OMIM:618371
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of the anus, Abnormal cardiac septum morphology, Abnormal rectum morphology, Mitral v...	ORPHA:2556
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypoplastic left heart, Aortic valve ste...	ORPHA:2308
Canavan Disease	Increased CSF N-acetylaspartic acid concentration, CNS demyelination	OMIM:271900
White-Kernohan Syndrome	Hydroureter, Obstructive sleep apnea, Horseshoe kidney, Hydronephrosis	OMIM:619426
Okamoto Syndrome	Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ...	ORPHA:2729
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re...	OMIM:600740
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Delayed CNS myelination, Leukodystrophy	OMIM:616881
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Vesicoureteral reflux, Renal dysplasia, Hydroureter, Renal agenesis, Bladder diverticulum, Duplic...	OMIM:604292
Immunodeficiency 23	Failure to thrive, Abnormal CNS myelination, Esophageal stricture, High palate	OMIM:615816
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Recurrent respiratory infections, Central sleep apnea, Atrial septal defect, Sleep ap...	ORPHA:398069
Mucopolysaccharidosis, Type Vi	Mitral stenosis, Hydrocephalus, Macroglossia, Cervical myelopathy, Cardiomyopathy	OMIM:253200
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormal heart morphology	ORPHA:137667
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed myelination, High palate, Decreased body weight, Ventriculomegaly, Ventricular septal def...	OMIM:619475
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Hydronephrosis	ORPHA:101000
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Tracheomalacia, Multicystic kidney dysplasia, Ventricular septal d...	ORPHA:1393
Occipital Horn Syndrome	Gastroesophageal reflux, Vascular dilatation, Hepatitis, Jaundice, Abnormal esophagus physiology,...	ORPHA:198
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Aortic root aneurysm, Patent ductus arteri...	ORPHA:444077
Arboleda-Tham Syndrome	Ventricular septal defect, Recurrent aspiration pneumonia, Recurrent urinary tract infections, Se...	OMIM:616268
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hydrocephalus, Intestinal malrotation, Failure to thr...	ORPHA:955
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Atrial septal defect, Hypospadias, Ureteral stenosis, Micropenis, Hydronephrosis	OMIM:269150
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Fontaine Progeroid Syndrome	Retrognathia, Respiratory insufficiency, Pulmonary arterial hypertension, Mandibular prognathia, ...	OMIM:612289
2Q37 Microdeletion Syndrome	Nephroblastoma, Tracheomalacia, Multicystic kidney dysplasia	ORPHA:1001
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Asthma, Ureteropelvic junction obstruction, Stridor, Hydronephrosis	OMIM:616973
Campomelic Dysplasia	Tracheobronchomalacia, Respiratory distress, Apnea, Hypospadias, Abnormal heart morphology, Strid...	OMIM:114290
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Renal tubular acidosis, Distal renal tubular acidosis, Proximal ...	ORPHA:2785
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Degcags Syndrome	Micrognathia, Hepatosplenomegaly, Hepatomegaly, Pneumonia, Patent foramen ovale, Ventricular sept...	OMIM:619488
Nijmegen Breakage Syndrome	Bronchiectasis, Recurrent urinary tract infections, Recurrent pneumonia, Sinusitis, Hydronephrosis	OMIM:251260
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity, High, narrow palate, Colpocephaly	ORPHA:75857
Frontometaphyseal Dysplasia	Abnormal heart morphology, Ureteral obstruction, Urethral stenosis, Hydronephrosis	ORPHA:1826
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Ventricular septal defect, Renal agenesis, Urethral stricture, Atrial septa...	OMIM:619522
Mucolipidosis Type Ii	Patent foramen ovale, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Left ve...	ORPHA:576
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Bronchiectasis, Hepatitis, Hepatosplenomeg...	ORPHA:391487
Adult Krabbe Disease	CNS demyelination, Peripheral demyelination, Increased CSF protein concentration	ORPHA:206448
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Leukodystrophy, Hypomyelinating, 9	Pseudobulbar paralysis, Leukodystrophy	OMIM:616140
Secondary Syringomyelia	Pseudobulbar paralysis, CNS demyelination, Increased CSF protein concentration, CSF pleocytosis	ORPHA:99857
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Pyruvate Carboxylase Deficiency	Leukodystrophy	OMIM:266150
Coccidioidomycosis	Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Pericarditis, CSF lymphocytic pleiocytosis, In...	ORPHA:228123
Hyperparathyroidism-Jaw Tumor Syndrome	Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias...	ORPHA:99880
Distal 22Q11.2 Microduplication Syndrome	High palate, Ventricular septal defect, Hydrocephalus, Anal atresia, Macroglossia, Tricuspid valv...	ORPHA:261337
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Ventricular septal defect, Aganglionic megacolon, Velopharyngeal insufficien...	OMIM:154400
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Atrial septal defect, Short palm, Short foot	ORPHA:251014
Orotic Aciduria	Ventricular septal defect, Atrial septal defect	OMIM:258900
De Sanctis-Cacchione Syndrome	Leukodystrophy, Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration	OMIM:278800
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency, Hydronephrosis	ORPHA:2750
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Micrognathia, Mesomelia	OMIM:613457
Robinow Syndrome, Autosomal Recessive 1	Renal duplication, Nephrocalcinosis, Nephrolithiasis, Micropenis, Hydronephrosis	OMIM:268310
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Secundum atrial septal defect, Pulmonic stenosis	OMIM:615802
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Hydrocephalus, Abdominal obesity, Cleft soft palate	OMIM:619321
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Nephrotic syndrome, Mitral valve prolapse, Atrial septal defect, Tricuspid valve pr...	OMIM:601776
Chromosome 16P13.3 Duplication Syndrome	Short toe, Tracheobronchomalacia, Ventricular septal defect, Micrognathia, Atrial septal defect, ...	OMIM:613458
Gaucher Disease	Abnormal pericardium morphology, Mitral valve calcification, Ventriculomegaly, Hydrocephalus, Dys...	ORPHA:355
Wolf-Hirschhorn Syndrome	Gastroesophageal reflux, Ventriculomegaly, Malrotation of small bowel, Ventricular septal defect,...	OMIM:194190
Eec Syndrome	Vesicoureteral reflux, Urethral atresia, Renal hypoplasia/aplasia, Hypospadias, Hydronephrosis	ORPHA:1896
Cockayne Syndrome A	Patchy demyelination of subcortical white matter, Normal pressure hydrocephalus, Ventriculomegaly...	OMIM:216400
Parathyroid Carcinoma	Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias...	ORPHA:143
Cockayne Syndrome B	Patchy demyelination of subcortical white matter, Normal pressure hydrocephalus, Abnormal periphe...	OMIM:133540
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Patent ductus arteriosus, Micrognathia, Recurrent sinusitis, Atrial septal defect, Hypoplasia of ...	OMIM:213980
Noonan Syndrome 1	Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Micrognathia, Atrial se...	OMIM:163950
Aicardi-Goutières Syndrome	Ventriculomegaly, Demyelinating peripheral neuropathy, Leukodystrophy, Arrhinencephaly, Hypertrop...	ORPHA:51
Blackfan-Diamond Anemia	Absent thumb, Ventricular septal defect, Radial artery aplasia, Micrognathia, Atrial septal defec...	ORPHA:124
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Atrioventricular canal defect, Jaundice, Dilated cardiomyopathy,...	OMIM:619573
Townes-Brocks Syndrome 1	Gastroesophageal reflux, Ventricular septal defect, Small for gestational age, Rectoperineal fist...	OMIM:107480
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Secundum atrial septal defect	OMIM:619121
Rabson-Mendenhall Syndrome	Mandibular prognathia, Ventricular septal defect, Advanced eruption of teeth, Atrial septal defec...	ORPHA:769
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	High palate, Ventriculomegaly, Communicating hydrocephalus, Large for gestational age, Slender build	ORPHA:457359
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Acromesomelia, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Vici Syndrome	Micrognathia, Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial septal defect, Recurre...	OMIM:242840
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Cleft palate, High, narrow palate, Agene...	ORPHA:2658
Fetal Akinesia Deformation Sequence 1	High palate, Small for gestational age, Hydrocephalus, Stillbirth, Cleft palate, High, narrow palate	OMIM:208150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Diamond-Blackfan Anemia 21	Micrognathia, Secundum atrial septal defect, Short toe	OMIM:620072
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mitral valve prolapse, Hydrocephalus, High palate	ORPHA:536467
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Vesicoureteral reflux, Renal dysplasia, Hydroureter, Renal agenesis, Bladder diverticulum, Duplic...	OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ...	OMIM:300967
X-Linked Cerebral Adrenoleukodystrophy	CNS demyelination, Diffuse demyelination of the cerebral white matter, Myelopathy, Dysphagia	ORPHA:139396
Microphthalmia With Limb Anomalies	High palate, Arrhinencephaly, Hydrocephalus, Failure to thrive, Cleft palate	ORPHA:1106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Patent foramen ovale, Short femoral neck, Short metacarpal, Carpal bone...	ORPHA:457395
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Respiratory insufficiency, Renal cyst, Renal hypoplasia	OMIM:616300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Renal cyst, Hypospadias, ...	OMIM:616975
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Gastroesophageal reflux, Hydrocephalus, Anteriorly placed anus, Oligospermia, Elevated circulatin...	ORPHA:95699
Von Hippel-Lindau Syndrome	Renal cell carcinoma, Pancreatic cysts, Multiple renal cysts, Epididymal cyst	OMIM:193300
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Patent foramen ovale, Recurrent respiratory infections	OMIM:618076
Bardet-Biedl Syndrome 20	Asthma, Pancreatitis, Atrial septal defect	OMIM:619471
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Abnormal right ventricle morphology, ...	ORPHA:500095
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity, CNS demyelination, CSF lymphocytic pleiocytosis, Increase...	ORPHA:83597
Hemophagocytic Lymphohistiocytosis, Familial, 2	Failure to thrive, CNS demyelination, Increased CSF protein concentration, CSF pleocytosis	OMIM:603553
Ctcf-Related Neurodevelopmental Disorder	Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonary hemorrhage, Prolonged neonat...	ORPHA:363611
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Abnormal heart morphology, Atrial septal defect, Patent ductus arteriosus	ORPHA:79076
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect	ORPHA:261236
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Dilatation of the ventricular cavity, Mandibular prognathia, Ventricular septal defect, Short fin...	ORPHA:459070
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Atrial septal defect	OMIM:618891
Cutis Laxa, Autosomal Recessive, Type Iic	Biventricular hypertrophy, Mitral valve prolapse, Pneumothorax, Atrial septal defect	OMIM:617402
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Faciocardiomelic Syndrome	Hyperplasia of the maxilla, Micrognathia, Common atrium, Dental malocclusion	OMIM:612731
Supranuclear Palsy, Progressive, 1	Astrocytosis, Gliosis, Dysphagia	OMIM:601104
Zttk Syndrome	Absent gallbladder, Patent ductus arteriosus, Small hand, Ventricular septal defect, Unilateral l...	OMIM:617140
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, Renal cys...	OMIM:266920
Peters Plus Syndrome	Renal duplication, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Renal hypopl...	ORPHA:709
Oculodentodigital Dysplasia	Enamel hypoplasia, Short middle phalanx of the 5th finger, Taurodontia, Atrial septal defect, Car...	OMIM:164200
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Ventriculomegaly, Small for gestational age, Mitral valve prolaps...	ORPHA:666
Von Hippel-Lindau Disease	Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl...	ORPHA:892
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the urinary system, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2636
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Sleep apnea, Hyperventilation, Atrial septal defect, Central apnea	ORPHA:522077
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Ventricular septal defect, Small hand, Atrial septal defect, Partial anomalous pulm...	OMIM:301044
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale, Delayed eruption of teeth, Micrognathia, Short femur	OMIM:300990
Occipital Horn Syndrome	Ureteral obstruction, Bladder diverticulum, Hydronephrosis	OMIM:304150
Genitopatellar Syndrome	Ventricular septal defect, Malrotation of small bowel, Agenesis of corpus callosum, Anal atresia,...	OMIM:606170
Baller-Gerold Syndrome	High palate, Perineal fistula, Bifid uvula, Anal atresia, Hydrocephalus, Spina bifida occulta, An...	OMIM:218600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Ebstein anomaly of the...	ORPHA:466791
Cryptococcosis	Hydrocephalus	ORPHA:1546
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Ventricular septal defect, Short femoral neck, Short metacarpal, Bicuspid aorti...	OMIM:271640
Hyperglycinemia, Lactic Acidosis, And Seizures	Leukodystrophy, Hypertrophic cardiomyopathy	OMIM:614462
Combined Oxidative Phosphorylation Deficiency 4	Leukodystrophy	OMIM:610678
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Secundum atrial septal defect, Pancreatic aplasia, Apnea	OMIM:609069
Wiedemann-Rautenstrauch Syndrome	Sudanophilic leukodystrophy, Small for gestational age, Secundum atrial septal defect, Hydrocepha...	OMIM:264090
Restrictive Dermopathy 1	Patent ductus arteriosus, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Pulmonary...	OMIM:275210
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Isolated Complex I Deficiency	Failure to thrive, Leukodystrophy, Hypertrophic cardiomyopathy, Increased CSF lactate	ORPHA:2609
Fraser Syndrome 1	Abnormal small intestine morphology, Encephalocele, Abnormality of the anus, Myelomeningocele, Hy...	OMIM:219000
Knobloch Syndrome 1	Renal duplication, Bifid ureter, Duplicated collecting system, Hydronephrosis	OMIM:267750
Leukodystrophy, Progressive, Early Childhood-Onset	Leukodystrophy	OMIM:617762
Supranuclear Palsy, Progressive, 2	Gliosis, Dysphagia	OMIM:609454
Split Cord Malformation	Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hypo...	ORPHA:573278
Coffin-Siris Syndrome 1	Ventricular septal defect, Hydroureter, Atrial septal defect, Ectopic kidney, Hypospadias, Renal ...	OMIM:135900
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Abnormal pulmonary valve morphology	ORPHA:667
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Spina bifida, Hydrocephalus, Anal atresia, Abnormal he...	ORPHA:322
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Frontometaphyseal Dysplasia 2	Patent ductus arteriosus, Patent foramen ovale, Short metacarpal, Bicuspid aortic valve, Stridor,...	OMIM:617137
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short toe, Rhizomelia, Short metacarpal, Short ribs, Short finger, Atrial septa...	OMIM:250220
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Short metacarpal, Short ribs, Micrognathia, Atrial septal defect, Shor...	OMIM:304120
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Renal hypopla...	ORPHA:93271
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Macroglossia, Recurrent gastroenteritis	ORPHA:309282
Neurofibromatosis Type 1	Astrocytoma, Hydrocephalus, Neoplasm of the gastrointestinal tract	ORPHA:636
Sotos Syndrome	Vesicoureteral reflux, Pulmonary bleb, Ventricular septal defect, Congenital posterior urethral v...	ORPHA:821
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Hypertrophic cardi...	ORPHA:116
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:607721
Hypermobile Ehlers-Danlos Syndrome	Gastroesophageal reflux, Anorectal anomaly, Ascending tubular aorta aneurysm, Malabsorption, Arte...	ORPHA:285
Monosomy 22Q13.3	Vesicoureteral reflux, Hydronephrosis, Recurrent pyelonephritis, Renal dysplasia	ORPHA:48652
Bickerstaff Brainstem Encephalitis	Acute demyelinating polyneuropathy, CSF pleocytosis, CNS demyelination, Recurrent gastroenteritis...	ORPHA:79138
Autosomal Dominant Cerebellar Ataxia	Pseudobulbar paralysis, CNS demyelination, Azoospermia, Tongue atrophy	ORPHA:99
Focal Dermal Hypoplasia	Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Intestinal malrotation, Anteriorly ...	OMIM:305600
Peters-Plus Syndrome	Decreased body weight, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Atrial septal ...	OMIM:261540
Bartsocas-Papas Syndrome 1	Patent foramen ovale, Absent thumb, Short metacarpal, Micrognathia, Hypoplasia of the maxilla, Li...	OMIM:263650
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Leukodystrophy, Failure to thrive in infancy, Recurrent gastroenteritis	ORPHA:79124
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Spondyloocular Syndrome	Dysplastic aortic valve, Mitral valve prolapse, Atrial septal defect	OMIM:605822
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Patent foramen ovale, Noncommunicating hydrocephalus, High palate, Velop...	OMIM:619325
Glycogen Storage Disease Ii	Cardiomegaly, Abnormal CNS myelination, Macroglossia	OMIM:232300
Trisomy 10P	Abnormality of the kidney, Multiple renal cysts, Abnormal heart morphology	ORPHA:171929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Cyst of the ductus choledochus, Renal dysplasia, Respiratory distress, Atrial sep...	ORPHA:480880
Peroxisome Biogenesis Disorder 6B	Leukodystrophy	OMIM:614871
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent ductus arteriosus, Patent foramen ovale, Agenesis of incisor, Mandibular prognathia, Asthm...	OMIM:619841
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Leukodystrophy, Failure to thrive, Hypertrophic cardiomyo...	OMIM:252010
Oculocerebrorenal Syndrome Of Lowe	Respiratory insufficiency, Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hemat...	ORPHA:534
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Restrictive ventilatory defect	OMIM:272460
Metachromatic Leukodystrophy, Late Infantile Form	Leukodystrophy, Increased CSF protein concentration	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Leukodystrophy, Increased CSF protein concentration	ORPHA:309263
Townes-Brocks Syndrome	Vesicoureteral reflux, Urethral valve, Abnormal cardiac septum morphology, Abnormality of the kid...	ORPHA:857
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Pallister-Hall Syndrome	Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Short 4th met...	ORPHA:672
Metachromatic Leukodystrophy, Adult Form	Leukodystrophy, Neoplasm of the gallbladder, Increased CSF protein concentration	ORPHA:309271
Mandibuloacral Dysplasia Progeroid Syndrome	Patent foramen ovale, Short femoral neck, Micrognathia, Left ventricular hypertrophy, Macrovesicu...	OMIM:619127
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination	ORPHA:221091
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Pleural effusion, Chylothorax, Atrial septal defect	ORPHA:2526
Williams-Beuren Syndrome	Dental malocclusion, Coronary artery stenosis, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:194050
Robinow Syndrome, Autosomal Dominant 1	Renal duplication, Micropenis, Hydronephrosis	OMIM:180700
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, Hydronephrosis	ORPHA:2273
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis	ORPHA:2363
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Leukodystrophy, Gastrointestinal telangiectasia, Intestinal bleeding, Oral leukoplakia	OMIM:612199
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Micrognathia, Ventricular septal defect	OMIM:613884
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Micrognathia, Hypoplastic facial bones, Absent sternal ossificati...	OMIM:216340
Acute Transverse Myelitis	Hypoglycorrhachia, CSF pleocytosis, Paralytic ileus, CNS demyelination, Increased CSF protein con...	ORPHA:139417
Neurofibromatosis-Noonan Syndrome	Malar flattening, Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Cornelia De Lange Syndrome	Small hand, Short 1st metacarpal, Ventricular septal defect, Delayed eruption of teeth, Micrognat...	ORPHA:199
Diphallia	Absent thumb, Abnormal heart morphology, Atrial septal defect	ORPHA:227
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Pallister-Killian Syndrome	11 pairs of ribs, Enamel hypoplasia, Short toe, Patent ductus arteriosus, Mesomelic/rhizomelic li...	OMIM:601803
Niemann-Pick Disease Type C	Demyelinating peripheral neuropathy, Leukodystrophy, Abnormal CNS myelination, Dysphagia	ORPHA:646
Proteus Syndrome	Renal cyst, Pulmonary embolism, Enlarged polycystic ovaries, Long penis	ORPHA:744
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
C Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney	ORPHA:1308
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Atrial ...	OMIM:308205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Subarterial ventricular septal defect, Secundum atrial septal defect, Vascular tort...	ORPHA:99646
Fraser Syndrome	Urethral atresia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia	ORPHA:2052
Norrie Disease	Venous insufficiency	ORPHA:649
Neuroocular Syndrome	Retrognathia, Patent foramen ovale, Obstructive sleep apnea	OMIM:619539
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Pmm2-Cdg	Aspiration pneumonia, Nephrotic syndrome, Pericardial effusion, Abnormal renal tubule morphology,...	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 19.0 Data