Gene Summary

Name:
dynein, axonemal, heavy chain 5
Synonyms:
Dnahc5,  b2b1154Clo,  Mdnah5,  b2b1565Clo,  b2b3491Clo,  b2b1134Clo,  b2b1537Clo

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 Dnah5tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating calcium level Dnah5tm1b(KOMP)Wtsi HET Early adult 2.76×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
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 Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
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)
Prostate gland N/A heterozygote Not available
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 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea 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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Dnah5 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 Dnah5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnah5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Ciliary dy... OMIM:611884
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Situs inversus totalis, Dextrocard... OMIM:615482
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:615451
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... OMIM:618254
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Situs inversus totalis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... OMIM:614017
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... OMIM:615067
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Adamantinoma
Hypercalcemia ORPHA:55881
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615504
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615505
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... OMIM:617577
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Hydrocephalus, Chronic sinusitis, Polysple... ORPHA:244
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Ciliary dyskinesia, Chronic sinusitis, Situs inversus totalis OMIM:612518
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Respiratory distress, Hydrocephalus, Hepatomegaly, Atrioventricular cana... OMIM:306955
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615500
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of respi... OMIM:613807
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Ciliary Dyskinesia, Primary, 17
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... OMIM:614679
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... OMIM:613193
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis OMIM:616481
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615444
Ciliary Dyskinesia, Primary, 9
Cough, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary ... OMIM:612444
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614935
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:608647
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Ciliary Dyskinesia, Primary, 38
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... OMIM:618063
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... OMIM:612650
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Cough, Situs inversus totalis, Wheezing, Chronic sinusitis, Recurrent pneumon... OMIM:613808
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Spermatogenic Failure 38
Coiled sperm flagella, Abnormal axonemal organization of respiratory motile cilia, Oligospermia, ... OMIM:618433
Ciliary Dyskinesia, Primary, 35
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polypos... OMIM:617092
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Glycogen Storage Disease 0, Muscle
Stroke, Left ventricular hypertrophy, Decreased muscle glycogen content, Left atrial enlargement,... OMIM:611556
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Diamond-Blackfan Anemia 20
Anemia, Total anomalous pulmonary venous return, Erythroid hypoplasia OMIM:618313
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the spleen, Abnormal lung lobation,... ORPHA:1666
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Ventriculomegaly, Agenesis of ... ORPHA:171703
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms OMIM:610852
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Communicating hydrocephalus, Situs inversus totalis, Chronic rhinitis, Recurrent... OMIM:244400
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Hypoxemia, Tachypnea, Dextrocardia, P... ORPHA:2257
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia, Restrictive ventila... OMIM:613686
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... OMIM:619608
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... ORPHA:70589
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus tot... OMIM:249270
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia OMIM:615872
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Dias... ORPHA:1686
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Micrognathia, Depressed nasal tip, Camptodactyly... ORPHA:2863
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Ventricular septal defect, Renal cyst, Renal hypoplasia, Respiratory f... OMIM:228940
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Tetralogy of Fallot, Wide nose, Patent ductus arter... ORPHA:2184
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Cleft palate, Tracheomalacia, Holoprosenceph... OMIM:202650
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Wide nasal bridge, Short thumb, Pulmonary artery at... ORPHA:401935
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism,... OMIM:314390
Seckel Syndrome 9
Asthma, Convex nasal ridge, Atrial septal defect, Congenital diaphragmatic hernia, Micrognathia, ... OMIM:616777
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... ORPHA:1908
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Hepatomegaly, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t... OMIM:611926
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, V... OMIM:617862
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Total anomalous pulmonary venous return, Atheroscler... ORPHA:494424
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Cor pulmonale, Micrognathia, Upper airway obstruction, Neonatal respi... OMIM:261800
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pulm... ORPHA:95430
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Tracheoma... OMIM:618280
Tetraamelia Syndrome 2
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... OMIM:618021
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal... ORPHA:1926
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Low-set ears, Po... OMIM:300864
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Respiratory insufficiency, Microcephaly, Cerebellar atrophy, Growth delay, Hear... OMIM:617899
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Hadziselimovic Syndrome
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... OMIM:612946
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Prominent nose, Cleft palate OMIM:221950
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... OMIM:618699
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar verm... ORPHA:2703
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... OMIM:600987
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Bardet-Biedl Syndrome 16
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... OMIM:615993
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Muscle fiber atrophy, Microretrognathia, Right ventricu... ORPHA:324604
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia OMIM:242680
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, Bronchi... OMIM:612649
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy, Arterial intimal fibrosis, Cou... OMIM:178600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... OMIM:613095
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:117210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Situs inversus ... ORPHA:990
Microcephaly, Seizures, And Developmental Delay
Ataxia, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Progressive microcephaly OMIM:613402
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... OMIM:614261
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Reduced respiratory ciliary beating freque... OMIM:617091
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic ki... ORPHA:1909
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Rec... OMIM:612541
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Anal atresia, Micro... OMIM:115470
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... OMIM:242670
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Bronchiectasis OMIM:618801
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... OMIM:619343
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Respiratory insufficiency, Patent ductus arteriosus, Secundum atrial s... OMIM:619909
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Dandy-Walker malformation, Abnormal liver lobula... ORPHA:99776
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Hypoplasia of the pons, Cere... OMIM:618276
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Microlissencephaly
Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia,... OMIM:616726
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Respiratory insufficiency, Dextroc... ORPHA:1759
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ataxia, Macrocephaly, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy OMIM:613925
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Pulmonary artery hypoplasia, Anomalous o... ORPHA:2326
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Colonic Atresia
Abnormality of mesentery morphology, Abdominal situs inversus ORPHA:1198
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... OMIM:612562
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory insufficiency, Death in childhood, Ventricular septal defect, R... OMIM:253300
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect, Acute myeloid leukemia OMIM:223350
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... OMIM:220210
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Splenogonadal f... OMIM:156810
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Secundum atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Pulmo... OMIM:616866
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Abnormal epiglottis morphology, Aspirati... ORPHA:141152
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Diaphragmatic Hernia 4, With Cardiovascular Defects
Bulbous nose, Hepatomegaly, Micrognathia, Diaphragmatic eventration, 11 pairs of ribs, Aplasia of... OMIM:620025
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Gastroesophageal reflux, High, narrow palate, Spl... OMIM:616368
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... OMIM:601493
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Bardet-Biedl Syndrome 17
Short fourth metatarsal, Hyposmia, Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Re... OMIM:615994
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Macrocephaly, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Gastroesophageal reflux, Right ventricular hypertrophy, Patent ductus arteriosus, An... OMIM:613623
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615938
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Short stature, Microcephaly, Waddling gait, Cerebellar atrophy, Hearing impairment OMIM:619090
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy, Nephrocalcinosis OMIM:616833
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Sensorineural hearing impairment, Microcephaly, Brain atrophy, Cerebellar atrophy OMIM:618741
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... ORPHA:1461
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Depressed nasal bridge, Hypospadias, Tetralo... OMIM:618316
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... ORPHA:206546
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... OMIM:619534
Lissencephaly 4
Short stature, Cerebellar hypoplasia, Primary microcephaly, Growth delay, Colpocephaly, Agenesis ... OMIM:614019
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Spinocerebellar Ataxia Type 31
Hearing impairment, Gait ataxia, Cerebellar atrophy ORPHA:217012
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Ant... OMIM:614069
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Atrial Septal Defect, Sinus Venosus Type
Airway obstruction, Anomalous pulmonary venous return, Stroke, Dyspnea, Exertional dyspnea, Pulmo... ORPHA:99105
Keutel Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Sinusitis, Airway obstructi... OMIM:245150
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Jaw swelling, Ventriculomegaly, Cerebellar atrophy, Gait ataxia OMIM:619323
Poland Syndrome
Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Unilateral absence of pectoralis ... OMIM:173800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial sept... ORPHA:2255
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Masa Syndrome
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Shuffling gait, Ventriculomegaly, Agene... OMIM:303350
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Macrocephaly, Ataxia, Microcephaly, Ventriculomegaly OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Microcephaly, Gait ataxia, Cerebellar atrophy, Growth delay OMIM:614322
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Retrognathia, Micrognathia, Microcephaly, ... ORPHA:1832
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion OMIM:265450
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal... ORPHA:2311
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Multicystic kidney dysplasia, Situs inve... ORPHA:991
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... ORPHA:86812
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Microcephaly, Cerebellar atrophy, Spastic gait, Chiari type I malformation OMIM:619742
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... OMIM:614876
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Pineocytoma
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia ORPHA:251912
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
14Q11.2 Microdeletion Syndrome
High palate, Depressed nasal bridge, Micrognathia, Ventricular septal defect, Short nose, Patent ... ORPHA:261120
Cleft Lip With Or Without Cleft Palate
Hearing impairment, Chronic sinusitis, Recurrent otitis media ORPHA:1991
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perime... OMIM:617877
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Scissor gait, Unsteady gait, Spastic gait ORPHA:101010
Spastic Paraplegia 32, Autosomal Recessive
Spastic gait, Difficulty walking, Cerebral atrophy, Cerebellar atrophy OMIM:611252
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch, High, narrow palate, Dandy-Walker malformation OMIM:616920
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Monosomy 18Q
Absence of the pulmonary valve, High palate, Hydrocephalus, Aortic valve stenosis, Secundum atria... ORPHA:1600
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Desmosterolosis
Anomalous pulmonary venous return, Cleft palate, Splenomegaly, Intestinal malrotation, Depressed ... ORPHA:35107
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Microcephaly, Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly OMIM:618730
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Horseshoe kidney, Micro... OMIM:601186
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Developmental And Epileptic Encephalopathy 76
Microcephaly, Inability to walk, Cerebral atrophy, Cerebellar atrophy OMIM:618468
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Ventricular h... OMIM:619048
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Abnormal renal corticome... OMIM:616733
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Leukemia, Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... ORPHA:3092
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Primum atrial septal defect, Right ventricular hypertrophy, Crackl... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Gastroesophageal reflux OMIM:616974
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Short stature, Cerebellar atrophy, Macrotia, Progressive microcephaly, Growth ... ORPHA:438178
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Respiratory insufficien... OMIM:610127
Pancreatic And Cerebellar Agenesis
Apnea, Secundum atrial septal defect, Pancreatic hypoplasia, Death in infancy, Anemia OMIM:609069
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Dysmetria, Short stat... ORPHA:284332
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Small hand, Left ventricular hypertrophy, Micrognathia, Hypospadias, C... OMIM:611209
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Cerebral atrophy, Respiratory insufficiency, Ventriculomegaly, Cerebellar atrophy,... OMIM:610333
Nescav Syndrome
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Microcephaly, Cerebellar atrophy OMIM:614255
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly, Ataxia ORPHA:99966
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Microcephaly, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy OMIM:611726
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Epistaxis, Hepatic steatosis ORPHA:96168
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... OMIM:619040
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Hypoplastic left heart OMIM:617661
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:615937
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... ORPHA:251071
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebral atrophy, Dysmetria, Short stature, Microcephaly, Central apnea, Gait ataxia, Cerebellar ... ORPHA:320385
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Pne... ORPHA:99104
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... OMIM:615248
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Ventriculomegaly, Cere... OMIM:618241
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Stroke, Right ventricular dilatation, Left atrial enlargement OMIM:614022
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, High palate, Hip contracture, Retrognathia, Left ventricular hypertrophy, Facial... ORPHA:169186
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Respiratory insufficiency, Multiple ... ORPHA:1166
Spinocerebellar Ataxia 37
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:615945
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Abnormal coronary ... ORPHA:980
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiado... ORPHA:363710
Verheij Syndrome
Renal agenesis, Abnormal cardiac septum morphology, Renal cyst, Renal hypoplasia OMIM:615583
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... ORPHA:101028
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Microcephaly, Aplasia/Hypoplasia of the external ear, Cerebellar hypo... ORPHA:168486
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Bifid uvula, Ventriculomegaly OMIM:619121
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... OMIM:192430
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
Desmosterolosis
Joint contracture of the hand, Cleft palate, Micrognathia, Hypoplastic nasal bridge, Short nose, ... OMIM:602398
Band Heterotopia
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy, ... OMIM:617804
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Bilateral choanal atresia, Short nose, Prominent nasal bridge... ORPHA:1200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Atrial septal defect, Cleft palate, Intracranial hemorrhage, Respiratory insuffici... ORPHA:163979
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy ORPHA:171622
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Pulmonary hyp... OMIM:313850
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myo... OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Exertional dyspne... OMIM:608751
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy, Malar flattening, Hypospadias, Broad... ORPHA:3242
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Carpenter Syndrome 1
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Spina bifida occulta, ... OMIM:201000
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... OMIM:220200
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Cerebellar hypoplasia, Gait ataxia, Cerebellar atrophy, Growth delay, Abnormal la... ORPHA:488635
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Pneumonia OMIM:226990
Fragile X Syndrome
Sinusitis, Cerebral cortical atrophy, Protruding ear, Macrocephaly, Otitis media, Chronic otitis ... ORPHA:908
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Joubert Syndrome
Apnea, Episodic tachypnea, Situs inversus totalis, Anteverted nares, Abnormal pattern of respirat... ORPHA:475
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Macroglossia, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Respiratory distress, Apnea, Ataxia, Broad-based gait, Elevated... ORPHA:79097
Pallister-Hall-Like Syndrome
Cleft palate, Short ribs, Micropenis, Depressed nasal bridge, Micrognathia, Micromelia, Short nos... OMIM:241800
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Pontocerebellar Hypoplasia, Type 6
Apnea, Increased CSF lactate, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Atrophy/Dege... OMIM:611523
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... ORPHA:70593
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia OMIM:617018
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst OMIM:174050
Synaptic Congenital Myasthenic Syndromes
High palate, Respiratory distress, Hand muscle weakness, Sleep apnea, Right ventricular hypertrop... ORPHA:98915
Hypermethioninemia Due To Adenosine Kinase Deficiency