Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ccdc39tm2b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ccdc39 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615067
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... OMIM:616037
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... OMIM:300991
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respir... OMIM:615505
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Right aortic arch, Transp... OMIM:231060
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615500
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent out... OMIM:614017
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dy... OMIM:613193
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aor... OMIM:615415
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis, Abnormal resp... OMIM:612518
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:614935
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 40
Cough, Situs inversus totalis, Rhinitis, Abnormal heart morphology OMIM:618300
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Dextrocardia, ... OMIM:618063
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... OMIM:618699
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal po... OMIM:613808
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusit... OMIM:617092
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis,... OMIM:615444
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Recurrent urinary tract infections, Dextrocardia, Polycystic kidney dyspl... OMIM:613095
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia, Mi... OMIM:612776
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... ORPHA:1727
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Bardet-Biedl Syndrome 8
Renal dysplasia, Situs inversus totalis, Hypospadias OMIM:615985
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... ORPHA:3097
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Broad nasal tip, Overr... OMIM:601927
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Dextrocardia, Cleft palate, Glossoptosis, Overri... OMIM:616145
Spondylocostal Dysostosis 4, Autosomal Recessive
Restrictive ventilatory defect, Situs inversus totalis, Unilateral vertebral artery hypoplasia, D... OMIM:613686
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Respiratory insufficiency, Absence of ... OMIM:602088
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Aplasia/Hypoplasia of the ... ORPHA:3426
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... OMIM:314390
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Alexander Disease
Increased CSF protein, Hydrocephalus, Diffuse demyelination of the cerebral white matter OMIM:203450
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheoma... OMIM:202650
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancreas, Cleft palate,... ORPHA:1926
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Patent ductus arte... OMIM:208540
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... ORPHA:1330
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mandibular prognathia, Pulmonic stenosis, Aortic root aneurysm, Persisten... OMIM:609008
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia, Atrioventricula... OMIM:619123
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis OMIM:616481
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Pneumonia, Sinusitis... OMIM:244400
Lethal Congenital Contracture Syndrome 10
Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiom... OMIM:617022
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Corpus callosum atrophy, Dysphagia, Ventr... OMIM:608809
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Ventricular septal d... ORPHA:79243
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Simplified gyral pattern, ... OMIM:615760
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Ventriculomegaly, Cerebral atrophy, CNS hypomyelination, Cerebral hypomyelination OMIM:601170
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia, High palate ORPHA:2863
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, High palate, Anteverted ... OMIM:617877
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megac... OMIM:156810
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Bulbous nose, Patent foramen ovale, Transposition of the great arteries, Depressed ... OMIM:616789
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... OMIM:618280
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Gastroesophageal reflux, Wide nasal bridge, H... OMIM:616920
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Microcephaly 10, Primary, Autosomal Recessive
Delayed myelination, Gliosis, Cerebral atrophy, Small for gestational age, Microcephaly, CNS hypo... OMIM:615095
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Mandibular prognathia, Mesomelia, Wide nasal b... ORPHA:1908
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Abno... ORPHA:2257
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... OMIM:277740
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Decreased nasal nitric oxide, Bronchiectasis, Atelectasis OMIM:615872
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Mosaic Trisomy 9
Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart valve morphology, E... ORPHA:99776
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Prominent nose OMIM:221950
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Alveolar c... OMIM:265380
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Respiratory failure, ... OMIM:253300
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral cortex, Diffuse demyelinatio... ORPHA:168486
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Pachygyria, Delayed myelination, Ventriculomegaly, Microcephaly OMIM:617613
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Ventricular septal defect OMIM:616816
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... OMIM:617982
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Delayed myelination, Hydrocephalus OMIM:300884
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Sinusitis,... OMIM:615504
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Duodenal... ORPHA:1759
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Neonatal respiratory distress, Upper airway obstruction OMIM:261800
Orofaciodigital Syndrome Xvii
Ventriculomegaly, High, narrow palate, Decreased body weight, Tetralogy of Fallot, CNS hypomyelin... OMIM:617926
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse demyelination of the cerebral white matter, Microcephaly, Diffus... ORPHA:77299
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Perimembranous ventric... ORPHA:363444
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Respiratory di... ORPHA:990
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Cerebral hypomyelination, Failure to thrive, Microcephaly, CNS hypomyelination OMIM:300475
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, CNS hypomyelination, Dilat... OMIM:610015
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed myelination, Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of later... OMIM:617296
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... ORPHA:1780
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... ORPHA:2306
Familial Visceral Myopathy
Micrognathia, Prominent nasal bridge, Abdominal situs inversus, Anteverted nares ORPHA:2604
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral hypom... ORPHA:369939
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed CNS myelination, Periventricular leu... OMIM:618875
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Dysphagia, Wide nasal bridge, Patent foramen ovale, Hypoplastic spleen, Wid... ORPHA:89844
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Bardet-Biedl Syndrome 16
Renal insufficiency, Respiratory distress, Renal dysplasia, Renal cyst, Renal agenesis, Abnormali... OMIM:615993
Hemimegalencephaly
Pachygyria, Gliosis, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral white matter on... ORPHA:99802
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral ... OMIM:600721
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function, Ventricular septal defect ORPHA:306550
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Micro... OMIM:614959
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Transposition of th... OMIM:313850
16P13.2 Microdeletion Syndrome
Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, G... ORPHA:500055
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Abnormal periventricular white matter morphology, Failure to... OMIM:616881
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure... ORPHA:284417
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, High palate, Microcephaly OMIM:612936
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... OMIM:614886
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... OMIM:300712
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Mitral valve prolapse OMIM:173900
Feingold Syndrome Type 1
Tricuspid atresia, Gastrointestinal atresia, Interrupted aortic arch, Abnormal heart morphology, ... ORPHA:391641
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Ventriculomegaly, Delayed myelination, CNS hypomyelination OMIM:618367
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Abdominal situs inversus, Wide nasal bridge, Depressed nasal bridge ORPHA:2062
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus, Failure to thrive ORPHA:26
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, Recurrent pneumonia OMIM:616726
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Abnormal corti... ORPHA:2185
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Micrognathia, Malar flattening, Hypoplasia of the... OMIM:241310
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Leukoencephalopathy, Hypoplasia of the corpus callosum, CNS hypomyelination, Spina bifida occulta OMIM:615281
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Microcephaly, Secondary microcephaly, Leukodystrophy OMIM:616763
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy, Ventriculomegaly, Cerebral atrophy, Failure to thrive, Microcephaly OMIM:616034
Maternal Phenylketonuria
Abnormal heart morphology, Ventricular septal defect, Esophageal atresia, Wide nasal bridge, Doub... ORPHA:2209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Natal tooth, Abdominal situs inversus, Choanal atresia, Tracheomalacia... ORPHA:2108
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arteriosus, Pulmonic ... OMIM:201000
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, High palate, Failure to thrive, Volvu... OMIM:618606
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Abnormal heart morphology OMIM:613390
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Leukoencephalopathy With Vanishing White Matter
Gliosis, Cessation of head growth, Leukoencephalopathy, Cerebral hypomyelination, CNS demyelination OMIM:603896
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... OMIM:601612
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Se... OMIM:618559
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmonic stenosis, Perimembranous v... OMIM:611376
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Ventriculomegaly, Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy OMIM:614946
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Sinusitis, Immotile cilia, Chronic rh... OMIM:242670
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Frontal Encephalocele
Leukodystrophy, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, ... ORPHA:1931
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Biventricular hypertrophy, Thrombocytopenia, Anemia, Coarctation... ORPHA:101028
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kleeblattschaedel
Hydrocephalus OMIM:148800
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, High palate, Muscular ventricular septal defect, Wide n... OMIM:618804
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, CNS hypomyelination, Progressi... OMIM:613477
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic ar... ORPHA:163979
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Slc35A2-Cdg
Delayed myelination, Cerebral white matter atrophy, Abnormal heart morphology, Hypoplasia of the ... ORPHA:356961
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Ventricular septal defect, Choanal atresia, Esophage... OMIM:101200
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Hypoplasia of the corpus callosum, Increased CSF lactate, Microcephaly, CNS hypomyelinat... OMIM:616239
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Renal... OMIM:228940
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality of the pulmonary... ORPHA:1166
Leukodystrophy, Hypomyelinating, 10
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral cortical atrophy, F... OMIM:616420
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Anal ... OMIM:612946
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... OMIM:614300
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Johnson Neuroectodermal Syndrome
Cleft palate, Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Macrocytic anemia, Cleft palate OMIM:614294
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis OMIM:618801
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Abnormal cerebral white matter morphology, CNS demyelination, Gliosis, Leukoencephalopathy OMIM:221820
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Meckel Syndrome, Type 1
Accessory spleen, Abnormality of the larynx, Patent ductus arteriosus, Intestinal malrotation, Va... OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Anal atresia, Overriding aorta, Anteriorly place... OMIM:309801
Adducted Thumbs Syndrome
Dysphagia, Myelin-dependent gliosis, High palate, Cerebral dysmyelination, Cleft palate, Microcep... OMIM:201550
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Hepatic cysts, Abnor... ORPHA:1505
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperintensity of cerebral w... ORPHA:527497
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, High palate, Depressed nasal b... OMIM:618929
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Hepatocellular carcinom... ORPHA:88618
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Gliosis, Cardiomyopathy OMIM:615119
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Gastroesophageal reflux, Dandy-Walker... ORPHA:397715
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... OMIM:217085
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebral atrophy, Gliosis OMIM:618369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal tracheobronchial morphology, Micrognathia, Trismus, Abnormal heart morphology OMIM:218450
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Abnormal cerebral white matter morphology, Type II lissencephaly, Hydroceph... ORPHA:352682
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus, Failure to thrive ORPHA:250994
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy, Cerebral calcification, Leukoencephalopathy OMIM:614561
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Microcephaly, Failure to thrive OMIM:616577
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal CNS myelination, Obesity ORPHA:521390
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Joubert Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Aganglionic megacolon, Polymic... ORPHA:475
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral atrophy, Microcephaly OMIM:619125
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Hiatus hernia, Pachygyria, Delayed CNS myelination, Choroi... OMIM:304050
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Dilation of lateral ventricles, Dilated fourth ventricle, Small for ge... ORPHA:3078
Facial Dysmorphism With Multiple Malformations
Short nose, Bulbous nose, Ventricular septal defect, Wide nasal bridge, Rectovaginal fistula, Ana... OMIM:227255
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Bicuspid aortic valve, ... ORPHA:397951
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate a... OMIM:614876
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventr... OMIM:300952
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination, Cerebral atrophy OMIM:614482
Aicardi-Goutieres Syndrome 4
Leukodystrophy, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcif... OMIM:610333
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Delayed myelinati... ORPHA:2148
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Wide nasal bridge, Cleft palate,... OMIM:280000
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukodystrophy, Dysphagia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, CNS hypo... OMIM:607694
Developmental And Epileptic Encephalopathy 93
Hypoplasia of the corpus callosum, CNS hypomyelination, Cerebral atrophy, Microcephaly OMIM:618012
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Delayed myelination, Dilation of lateral ventricles ORPHA:85290
Cach Syndrome
T2 hypointense thalamus, Dysphagia, Cerebral atrophy, Microcephaly, Dysmyelinating leukodystrophy... ORPHA:135
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, High, narrow palate, Wide nasal... ORPHA:96092
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Gastroesophageal reflux, Cachexia, High palate, CNS hypomyelin... OMIM:618186
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Poland Syndrome
Dextrocardia OMIM:173800
Peroxisome Biogenesis Disorder 11A (Zellweger)
Polymicrogyria, CNS hypomyelination, Failure to thrive, Lissencephaly OMIM:614883
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Esophageal atresia, Wide nasal bridge, D... OMIM:164280
Wolf-Hirschhorn Syndrome
Short hallux, Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, Wi... ORPHA:280
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... ORPHA:464738
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia, Dilation of lateral ventricles, F... ORPHA:488627
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Fried Syndrome
High palate, Cerebral calcification, Hydrocephalus ORPHA:85335
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Hypoplasia of the corpus callosum, Ventriculomegaly, Secondary microcephaly,... OMIM:616683
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Gastroesophageal reflux, Intestinal ... ORPHA:2059
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy, Hyperintensity of cerebral white matter on MRI OMIM:619224
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Interrupted aortic arch, Hepatic steatosis, Gastroesophageal reflu... ORPHA:17
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Delayed myelination, Dilatio... OMIM:231670
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Severe demyelination of... ORPHA:488635
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia OMIM:600666
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Ventriculomegaly, Abnormal cerebral white matter morphology, Truncal obesity, Small for ... OMIM:300957
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Gliosis, Failure to thrive, Microcephaly, Agenesis of corpus callosum OMIM:214150
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hydronephrosis, Hydroureter OMIM:618240
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Cardiomegal... OMIM:601005
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Situs inversus totalis, Ventricular septal defec... ORPHA:289
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
1Q21.1 Microdeletion Syndrome
Ankyloglossia, Bulbous nose, Interrupted aortic arch, Patent ductus arteriosus, Wide nasal bridge... ORPHA:250989
Developmental And Epileptic Encephalopathy 75
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Secondary... OMIM:618437
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... ORPHA:371428
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Absent gallbladder, Tetralogy of Fallot, Overriding aorta ORPHA:3186
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Pa... OMIM:619302
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, High palate, Alobar holoprosencephaly, Lobar holo... OMIM:609637
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Abnormal heart morphology, Ventricular sept... ORPHA:401935
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly, Cerebral calcification, Leukoencephalopathy, Microcephaly, Abnormal CNS myelina... OMIM:612951
Lissencephaly, X-Linked, 2
Pachygyria, Gliosis, Ventriculomegaly, High palate, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Gliosis OMIM:125700
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... ORPHA:1923
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Delayed myelination, Increased CSF lactate, Hypoplasia of the corpus callosum, Cerebr... OMIM:614922
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Patent ductus... OMIM:606003
Malan Overgrowth Syndrome
High palate, Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Trache... OMIM:619227
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect OMIM:601355
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Perlman Syndrome
Interrupted aortic arch, Wide nasal bridge, Volvulus, Distal ileal atresia, Pancreatic islet-cell... OMIM:267000
Johanson-Blizzard Syndrome
Short nose, Underdeveloped nasal alae, Exocrine pancreatic insufficiency, Dextrocardia, Abnormali... ORPHA:2315
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related