Gene Summary

Name:
dynein axonemal assembly factor 4
Synonyms:
1700010I24Rik,  Dyx1c1,  EKN1,  b2b811Clo

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 Dnaaf4tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
impaired pupillary reflex Dnaaf4tm1b(EUCOMM)Hmgu HET Early adult 1.28×10-08
trunk curl Dnaaf4tm1b(EUCOMM)Hmgu HET Early adult 4.69×10-05
hyperactivity Dnaaf4tm1b(EUCOMM)Hmgu HET   Early adult 4.55×10-05

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis 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)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

11 Images

Sleep Wake

Wake state (bmp file)

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

1 Images

Human diseases caused by Dnaaf4 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 Dnaaf4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Immotile cilia, Situs inversus totalis... OMIM:615482
Primary Ciliary Dyskinesia
Bronchiectasis, Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart morph... ORPHA:244
Dyslexia, Susceptibility To, 1
OMIM:127700

The table below shows human diseases predicted to be associated to Dnaaf4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Immotile cilia, Situs inversus totalis... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory... OMIM:615451
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:608644
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Dextrocardia, Abnormal ciliary motility, Bronchiecta... OMIM:611884
Schizophrenia 15
Hyperactivity OMIM:613950
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary dy... OMIM:615872
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:615481
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615504
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis, Recurrent s... OMIM:614874
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis... OMIM:613193
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615505
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Respiratory ... OMIM:616037
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory insu... OMIM:615500
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Abnorma... OMIM:613807
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Abnormality of abdominal situs, Abnormal rib mor... ORPHA:1666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Neonatal death, Persistent left superior vena cava,... OMIM:314390
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... ORPHA:261243
Primary Ciliary Dyskinesia
Bronchiectasis, Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart morph... ORPHA:244
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... OMIM:614679
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Cervical ribs ORPHA:66630
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Re... OMIM:615444
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory insu... OMIM:614935
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Thoracic aortic... OMIM:619657
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary... OMIM:616481
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchi... OMIM:249270
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:612444
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Right aortic arch, Dextrocardia, Bronchiectasis OMIM:617577
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiec... OMIM:606763
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory... OMIM:608647
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:620197
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia OMIM:612650
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis OMIM:615985
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Cryptorchidism, 2-3 toe syndactyly, Persistent left superi... ORPHA:3304
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistula, Complet... OMIM:619343
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachnodactyly, Persistent l... OMIM:609008
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec... OMIM:614294
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Asplenia, C... OMIM:244400
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Lethal Congenital Contracture Syndrome 10
Broad ribs, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Hypopla... OMIM:617022
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Meckel Syndrome, Type 7
Aortic valve stenosis, Postaxial foot polydactyly, Biliary cirrhosis, Cholestasis, Hepatosplenome... OMIM:267010
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... OMIM:618845
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, 2-3 toe s... ORPHA:477817
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... OMIM:601927
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Anterior hypopituitarism, Cryptorchidism, Brachydactyly, Dextrocardia, H... ORPHA:2863
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Aplasi... ORPHA:1908
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... ORPHA:1759
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Situs inve... OMIM:613686
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Secundum atrial septal defect, Aortic root aneurysm, Clinodactyly of the 5th fi... OMIM:619910
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Neonatal death, Atrial septal... OMIM:620024
Carpenter Syndrome 1
Toe syndactyly, Shallow acetabular fossae, Genu valgum, Cryptorchidism, Ventricular septal defect... OMIM:201000
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Death in childhood, Ventricu... OMIM:613759
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia OMIM:619436
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia OMIM:615294
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries, Macroglo... OMIM:616789
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... OMIM:615994
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Ventricular septal defect,... ORPHA:1354
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Perimembranous ventricular septal ... OMIM:617877
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventr... ORPHA:251071
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections, Bronch... OMIM:612649
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Adducted thumb, Hydrocele testis, Brachydactyly OMIM:620062
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Cleft palate, Pulm... OMIM:202650
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Syndactyly OMIM:173800
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Cryptorchidism, Macrocytic anemia OMIM:620071
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Ove... OMIM:618316
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Situs inversus totalis OMIM:614833
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Death in infancy, Ventricular septal defect, Hepatomegaly, Jaundice, Glosso... OMIM:614876
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Gastroesophageal reflux, Multiple muscular ventricular septal defects, Death in infancy, Aortic a... OMIM:620070
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone morphology, Overri... ORPHA:1110
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Recurrent sinusitis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:610852
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Brachydactyly, Ventricular septal defect OMIM:619995
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia, Anemi... OMIM:618067
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, I... ORPHA:2255
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short mid... ORPHA:391646
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Ventricular septal defect, Bicuspid aortic valve, Left... OMIM:618619
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Abnormal cardiac septum morphology, Ventricular septal de... ORPHA:1937
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... OMIM:179613
Ververi-Brady Syndrome
Clinodactyly of the 5th finger, High palate, Transposition of the great arteries, Metaphyseal irr... OMIM:617982
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de... OMIM:253300
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... OMIM:614326
Sandestig-Stefanova Syndrome
Clinodactyly, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Campt... OMIM:618804
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Acute leukemia, Synostosi... ORPHA:289
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ... OMIM:142900
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ciliary beating fr... OMIM:617091
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary hypoplasia OMIM:602088
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular septal defect, Over... ORPHA:363444
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Neona... OMIM:615524
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Pneumot... ORPHA:2257
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Catel-Manzke Syndrome
Bifid uvula, Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu ... OMIM:616145
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology... OMIM:249670
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy ORPHA:75858
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Radial deviation of the 2nd finger, Metat... ORPHA:1388
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, Cleft palate, Pulm... OMIM:313850
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, High palate, Atrial septal defect OMIM:618354
Sotos Syndrome
High, narrow palate, Long metacarpals, Gastroesophageal reflux, Muscular ventricular septal defec... OMIM:117550
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, 11 pairs of ribs, Median cleft palate, Complete atrioventricular cana... OMIM:264480
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Feingold Syndrome Type 1
Interrupted aortic arch, Toe syndactyly, Tricuspid stenosis, Short thumb, Abnormal heart morpholo... ORPHA:391641
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Decreased response to growth hormone stimulation tes... OMIM:618624
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Cardiomegaly, ... OMIM:614096
Mosaic Trisomy 9
Hip dislocation, Finger clinodactyly, Camptodactyly of finger, Intestinal malrotation, Abnormal h... ORPHA:99776
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g... ORPHA:1780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Abnormal aortic morphology, Abnormality of the... ORPHA:1166
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Truncus arteriosu... ORPHA:401935
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Situs inversus totalis ORPHA:990
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit... ORPHA:216866
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Ventricular septal defect ORPHA:1918
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, 2-3 finger syndactyly, Tracheoesophageal f... ORPHA:2437
Joubert Syndrome
Aganglionic megacolon, Hand polydactyly, Situs inversus totalis, Foot polydactyly ORPHA:475
Mohr-Tranebjaerg Syndrome
Dystonia, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Toe syndactyly, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... OMIM:619123
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Alg12-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Sandal gap, Intestinal malrotation, Biventricular h... ORPHA:79324
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Coarctation of aorta, Dextro... OMIM:618929
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Abnormal thumb morphology, Heterotaxy, Abnormal r... ORPHA:3242
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Death in infancy, Abnormal cardiac sep... ORPHA:2315
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... OMIM:620210
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... OMIM:616589
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... ORPHA:3474
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Arachnodac... OMIM:248700
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Intellectual Developmental Disorder, Autosomal Recessive 73
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morphology, Rib fusion,... ORPHA:261197
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Muscular ventricu... OMIM:618569
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect, Clinodactyly ... ORPHA:2515
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Abnormal aortic morp... ORPHA:2516
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Mmep Syndrome
Triphalangeal thumb, Cryptorchidism, Split foot, Ventricular septal defect ORPHA:3434
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Missing ribs, Aplasia/Hypoplasia of the thumb, Overridin... ORPHA:3186
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Anal atresia, Atrial sep... OMIM:612946
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, High palate, Patent ductus arteriosus ORPHA:261120
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Linear Skin Defects With Multiple Congenital Anomalies 1
Anteriorly placed anus, Colonic atresia, Histiocytoid cardiomyopathy, Ventricular septal defect, ... OMIM:309801
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Recurrent respiratory infections, Intestinal malrotation, T... ORPHA:2970
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Osteolysis involving tarsal bones, Mitral valve prolapse, Ventricular septal d... ORPHA:371428
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Persistence... OMIM:612561
Marden-Walker Syndrome
Bifid uvula, Camptodactyly of finger, Situs inversus totalis, Submucous cleft hard palate, Ventri... ORPHA:2461
Distal Duplication 5Q
Absent thumb, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, H... ORPHA:96097
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... OMIM:614262
Maternal Phenylketonuria
Hypoplastic left heart, Clinodactyly, Abnormal heart morphology, Tetralogy of Fallot, Ventricular... ORPHA:2209
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Patent... OMIM:616276
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Tracheoesophageal fistula, Megaloblastic anemia, Atrial septal defect, Dext... OMIM:277380
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Postaxial foot polydactyly, Overlapping fingers, Leukopenia, Cryptorchidism, Ventricu... OMIM:301056
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Gastroesophageal reflux, Secundum atrial septal defect, Broad thumb, Sandal gap... OMIM:600987
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol... ORPHA:564
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypo... ORPHA:96092
Carpenter Syndrome 2
Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Atrial septal def... OMIM:614976
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal fistula, Esoph... OMIM:619227
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Ventricular septal defect, Bicuspid aortic valve, Double outlet... OMIM:616652
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Tremor, Torticollis, Writer's cramp, Tor... OMIM:128100
Li-Campeau Syndrome
Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Gastrointes... OMIM:619189
Renpenning Syndrome 1
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Tetralogy of Fallot, Dec... OMIM:309500
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly ORPHA:79094
Diets-Jongmans Syndrome
Cryptorchidism, Heterotaxy, Ventricular septal defect, Interrupted inferior vena cava with azygou... OMIM:618846
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Cryptorchidism, Hip contracture, Ventricula... OMIM:210710
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, Normochromi... ORPHA:66634
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular ... OMIM:312870
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Ciliary dyskinesia OMIM:242670
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Clinodactyly, Broad 2nd toe, Tetralogy of Fallot, Acute lym... OMIM:280000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, A... OMIM:214800
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect OMIM:618330
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Cholestasis, Congenital hepatic fibrosis, ... OMIM:619534
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Cryptorchidism, Pate... OMIM:256520
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Vater/Vacterl Association
Short thumb, Abnormal rib morphology, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... OMIM:192350
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... OMIM:601005
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept... ORPHA:290
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Dilatation of the cerebral artery, Cholestasis, Ca... ORPHA:615
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Iron deficiency anemia, Double outle... ORPHA:1667
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Abnormal heart morphology, Cryptorchidism, Death in infancy, Neonatal ... OMIM:613390
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defect, Hepatomegaly OMIM:613730
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lung, Lower limb undergrowth, Upper limb undergrowth OMIM:613630
Infantile Sialic Acid Storage Disease
Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate... OMIM:269920
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy of Fallot, Absent gallbladder, ... OMIM:617925
Intellectual Developmental Disorder, Autosomal Recessive 79
Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi... OMIM:620393
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Anal atresia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Short distal phalanx of finger, Cleft palate, Ventricular septal defect OMIM:601355
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus ORPHA:250994
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal ... OMIM:615503
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de... OMIM:235750
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal de... OMIM:157800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Prominent fingertip pads, Anteriorly placed anus, A... OMIM:618494
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, ... ORPHA:94066
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Duplication of phalanx of ha... OMIM:263630
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Roifman Syndrome
Recurrent pneumonia, Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventr... OMIM:616651
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Acalvaria
Abnormal lung lobation, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate ORPHA:945
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect OMIM:619170
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, High palate, Patent du... OMIM:612474
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Splenomegaly, Renal ... ORPHA:565612
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal mitral valve morphology, Ventricular septal de... ORPHA:7
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Grange Syndrome
Finger clinodactyly, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Caro... OMIM:602531
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul... OMIM:616898
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Recurre... OMIM:615508
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... ORPHA:31150
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Split foot, Mitr... ORPHA:2008
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Ventricular septal ... ORPHA:2876
Restrictive Dermopathy
Thin ribs, Microcolon, Pulmonary hypoplasia, Camptodactyly of finger, Submucous cleft hard palate... ORPHA:1662
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Iliac crest... OMIM:613320
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... OMIM:619142
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,... OMIM:618974
Williams Syndrome
Genu valgum, Death in early adulthood, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... ORPHA:904
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis ORPHA:382
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Genu valgum, Cryptorchidism ORPHA:1381
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Death in c... OMIM:243150
Congenital Toxoplasmosis
Ventriculomegaly, Cardiomegaly, Anemia, Hydrocephalus, Lymphadenopathy, Thrombocytopenia, Hepatom... ORPHA:858
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Hand polydactyly, Dextrocardia, Foot polydactyly, Cleft palate ORPHA:220493
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent pneumonia, Persi... OMIM:619769
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Clubbing of toes, Recurrent respiratory infections, Tetralo... ORPHA:163956
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatos... OMIM:619503
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... OMIM:618142
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Death in infanc... OMIM:617478
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, 2-3 toe syndactyly, Brachydactyly... ORPHA:3306
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... OMIM:618223
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
8Q12 Microduplication Syndrome
Short foot, Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect ORPHA:228399
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Ulnar deviation of finger, Clinodactyly, Sandal ga... OMIM:618164
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Aplastic anemia, Duodenal atresia, Abnormal lung lobation... OMIM:300514
Lambert Syndrome
Cholestasis, Jaundice, Intrahepatic biliary atresia, Ventricular septal defect ORPHA:1296
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Pancytopenia, Hepatosplenomegaly, Splenomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Cryptorchidism, Death in infancy, Ventricular septal defect, A... ORPHA:452
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Hip dislocation, Ventricular septal defect OMIM:619083
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100