Gene Summary

Name:
dynein, axonemal, heavy chain 5
Synonyms:
Dnahc5,  b2b1154Clo,  b2b1565Clo,  Mdnah5,  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
increased blood urea nitrogen level Dnah5tm1b(KOMP)Wtsi HET Early adult 9.30×10-05
preweaning lethality, incomplete penetrance Dnah5tm1b(KOMP)Wtsi HOM   Early adult 0.00
preweaning lethality, complete penetrance Dnah5tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating total protein level Dnah5tm1b(KOMP)Wtsi HET Early adult 3.52×10-05
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

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
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Situs inversus totalis, Atrioventricular canal def... OMIM:618300
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Mirror Movements 3
Situs inversus totalis OMIM:616059
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Right aortic arch, Patent foram... OMIM:620642
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:608644
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615451
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Nephronophthisis 14
Situs inversus totalis, Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Abnormal ciliary motility, Ciliary dyskinesia, Recurrent pn... OMIM:611884
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Righ... OMIM:306955
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Atelectasis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory in... OMIM:615872
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Pulmonary insufficiency, Ciliary dyskinesia, Abnormal ciliary motility, B... OMIM:614017
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Immotile cilia, Bronchiectasis OMIM:615481
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:616037
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615504
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Adamantinoma
Hypercalcemia ORPHA:55881
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... ORPHA:1330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Ciliary dyskinesia, Recurrent bronchitis, Recurrent sinusitis, Immotile c... OMIM:613193
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615505
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Abnormal inferior vena cava morphology, Intestinal malrotation, Abno... ORPHA:244
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory i... OMIM:614679
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615500
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Gastroesophageal reflux, Ciliary dyskinesia, Chronic rhinit... OMIM:615482
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614874
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614935
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Ciliary dyskinesia, Chronic rhinitis, Immotile cilia, Bronchiectasis, Rec... OMIM:616481
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia OMIM:612518
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Hypoplasia of the diaphragm, Abnormal heart morpholog... ORPHA:185
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the grea... OMIM:608978
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Nasal polyposis, Sinusitis, Immotile ci... OMIM:606763
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Rhinitis, Immotile cilia, Bronchiectasis, Chronic sinusitis OMIM:618063
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Pneumonia, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Bro... OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:620032
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:608647
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu... OMIM:611556
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal coronary artery morphology, Abnorm... ORPHA:860
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Taper... OMIM:618433
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Truncus arteriosus, Cho... OMIM:615415
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Bronchiectasis,... OMIM:620197
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Atelectasis... OMIM:615067
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Ciliary dyskinesia, Chronic rhinitis, Bronchiectasis, Recurrent respirato... OMIM:612650
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return OMIM:618313
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Ciliary dyskinesia, Nasal polyposis, Recurrent pneumonia, Bronchiectasis,... OMIM:613808
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus OMIM:617092
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Absent outer dynein arms, Atelectasis, Ciliary dyskinesia, Recurrent bron... OMIM:244400
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality ... ORPHA:1666
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Renal-Hepatic-Pancreatic Dysplasia 1
Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, Intestinal malrot... OMIM:208540
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Esop... OMIM:314390
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten... OMIM:609008
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Ventricular septal defect, Abdominal ... OMIM:619123
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... ORPHA:1686
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Prima... ORPHA:171703
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial se... OMIM:249270
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Intestinal malrotation,... ORPHA:401935
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, High palate, Anal atresia, Depressed nasal tip, Midshaft... ORPHA:2863
Ciliary Dyskinesia, Primary, 51
Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respirat... OMIM:620438
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous r... ORPHA:2184
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon... OMIM:614300
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Cleft palate, Tetralogy of Fallot, ... ORPHA:1727
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Cardiac-Urogenital Syndrome
Atrial septal defect, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent... OMIM:618280
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis, ... OMIM:602088
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... OMIM:611926
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Pulmonary artery ... ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Cleft palate, Tet... ORPHA:1926
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent lower respiratory tract infections, Abdominal situs inversus, Recurrent... OMIM:618699
Agnathia-Otocephaly Complex
Situs inversus totalis, Wide nose, Mandibular aplasia, Micrognathia, Cleft palate, Pulmonary hypo... OMIM:202650
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Fetal Trimethadione Syndrome
Transposition of the great arteries, High palate, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Absent inner dynein arms, Coiled sperm flagella OMIM:620356
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Seckel Syndrome 9
Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia, M... OMIM:616777
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ... OMIM:620294
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Ritscher-Schinzel Syndrome 2
High palate, Camptodactyly, Pulmonary artery hypoplasia, Intestinal malrotation, Protruding tongu... OMIM:300963
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr... ORPHA:2703
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Hadziselimovic Syndrome
Anteverted nares, Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal atresia, R... OMIM:612946
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, Cl... OMIM:600987
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Severe sensorineural hearing imp... OMIM:604213
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Recurrent urinary tract infections,... OMIM:613095
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Ciliary dyskinesia, Hearing impairment, Recurrent sinusitis, Recurrent pn... OMIM:619436
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Cleft palate, Secundum atrial septal defect, Pulmonary hypoplasia, Re... ORPHA:2257
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Total anomalous pulmonary venous return, Subarac... ORPHA:494424
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Cerebral atrophy, Cerebellar atrophy, Gait disturbance, Microcephaly, Short stature OMIM:620515
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleural effusion, Secundum... OMIM:617397
Spinocerebellar Ataxia 31
Limb ataxia, Sensorineural hearing impairment, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Microcephaly, Seizures, And Developmental Delay
Progressive microcephaly, Cerebellar atrophy, Microcephaly, Ataxia, Ventriculomegaly OMIM:613402
Long-Olsen-Distelmaier Syndrome
Subependymal cysts, Death in childhood, Elevated circulating alanine aminotransferase concentrati... OMIM:620609
Cat Eye Syndrome
Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, Absent radius, Tricuspid atresia,... OMIM:115470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Cerebel... OMIM:617862
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Anteverted nares, Patent... OMIM:619343
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Death in infan... OMIM:617478
Holt-Oram Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal aortic morphology, Phocomelia,... ORPHA:392
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Cholestasis, Biliary cir... OMIM:267010
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal liver lobulation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Macrocephaly, Cerebellar atrophy, Ataxia, Ventriculomegaly OMIM:613925
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Midgut malrotation, Right aortic arch, Anomalous origin of left coronary artery ... ORPHA:2326
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotati... ORPHA:3426
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Patent foramen ovale, ... OMIM:614868
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg... OMIM:618021
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Dohle Bodies And Leukemia
Secundum atrial septal defect, Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Classic Multiminicore Myopathy
Muscular dystrophy, Weakness of facial musculature, Mandibular prognathia, High palate, Generaliz... ORPHA:324604
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Mandibular aplasia, Microglossia, Absent nares, Apla... ORPHA:990
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Cl... OMIM:614261
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Anal atresia, Pulmonic stenosis, Aortic valve stenosis,... OMIM:220210
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Microlissencephaly
Cerebellar atrophy, Cerebral cortical atrophy, Microcephaly, Pneumonia, Ventriculomegaly ORPHA:1083
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Secundum atrial septal defect,... OMIM:612562
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Waddling gait, Hearing impairment, Microcephaly, Short stature OMIM:619090
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly, Gait disturbance OMIM:611808
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
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum... OMIM:612541
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Cardio... ORPHA:171445
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Sensorineural hearing impairment, Cer... OMIM:616291
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, High palate, Cardiomyopathy, Secundum atrial septal defect, Pulmonary hypop... OMIM:616866
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Microcephaly, Brain atrophy, Sensorineural hearing impairment, Cerebellar atrophy OMIM:618741
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy, Jaw swelling, Gait ataxia OMIM:619323
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Limb ataxia, Difficulty walking, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia ORPHA:363432
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Anal stenosis, Dextrocardia, Aplasia of posterior communicating artery, E... OMIM:613686
Spinocerebellar Ataxia Type 31
Hearing impairment, Cerebellar atrophy, Gait ataxia ORPHA:217012
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular hype... ORPHA:70589
Paget Disease Of Bone 6
Nephrocalcinosis, Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Ciliary dyskinesia, Recurrent bronchit... OMIM:616726
Lissencephaly 4
Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Pr... OMIM:614019
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the shoulder girdle musculatur... ORPHA:206546
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Hydrocephalus, Microcephaly, Ataxia, Ventriculomegaly OMIM:618709
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy OMIM:234810
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Bardet-Biedl Syndrome 17
Situs inversus totalis, Polyuria, Dextrocardia, Hyposmia, Anosmia, Renal cyst, Short fourth metat... OMIM:615994
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Cerebellar atrophy, Hypoplas... OMIM:618276
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Atrial septal defect, Ve... OMIM:615996
Masa Syndrome
Macrocephaly, Hydrocephalus, Shuffling gait, Microcephaly, Short stature, Agenesis of corpus call... OMIM:303350
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Short nose, Hypospadias, Gastroesophageal reflux, A... OMIM:618316
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Chiari type I malformation, Cerebellar atrophy, Microcephaly, Ataxia OMIM:619742
Pineocytoma
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration ORPHA:251912
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Chronic rhinitis, Short stature, Recurrent sinusitis, Immotile cilia, Bronchi... OMIM:612649
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal aortic morphology, Pulmonary ar... ORPHA:991
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Isolated Congenital Hypoglossia/Aglossia
Abnormal epiglottis morphology, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea,... ORPHA:141152
Keutel Syndrome
Cartilaginous ossification of nose, Emphysema, Short hallux, Recurrent bronchitis, Pulmonary arte... OMIM:245150
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Autosomal Spastic Paraplegia Type 30
Spastic gait, Scissor gait, Ataxia, Unsteady gait, Diffuse cerebellar atrophy ORPHA:101010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, 11 pairs of ribs, Aortic root aneurysm, Aortopulmonary window, Aplasia of the left ... OMIM:620025
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Gait disturbance ORPHA:98766
Chops Syndrome
Short nose, High, narrow palate, Gastroesophageal reflux, Anteverted nares, Patent foramen ovale,... OMIM:616368
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Spastic Paraplegia 32, Autosomal Recessive
Cerebral atrophy, Spastic gait, Difficulty walking, Cerebellar atrophy OMIM:611252
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas... OMIM:173800
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro... OMIM:178600
Desmosterolosis
Abnormality of the nose, Retrognathia, Short nose, Micromelia, Intestinal malrotation, Micrognath... ORPHA:35107
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Retrognathia, Wide nose, Skeletal muscle hypertrophy, Ventricular hypert... OMIM:300280
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Dandy-Walker malformation, High, narrow palate, Ventricular septal defect OMIM:616920
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Congenital Tracheomalacia
Pneumothorax, Emphysema, Esophageal atresia, Gastroesophageal reflux, Cardiomegaly, Single ventri... ORPHA:95430
14Q11.2 Microdeletion Syndrome
Short nose, High palate, Micrognathia, Patent ductus arteriosus, Ventricular septal defect, Depre... ORPHA:261120
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Microcephaly OMIM:618730
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Inability to walk, Cerebellar atrophy, Microcephaly OMIM:618468
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Death in child... OMIM:253300
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Rectal prolapse, Multiple bladder diverticula, Emphysema, Atelectasis, Gastroesopha... OMIM:613177
Atrial Septal Defect 4
Atrial septal defect, Coarctation of aorta, Patent foramen ovale OMIM:611363
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Cerebellar atrophy, Hearing impairment, Microcephaly, Growth delay OMIM:617899
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Glossoptosis, Death in infancy, Elevated circulating aspartate aminotrans... OMIM:614876
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Microcephaly, Growth del... OMIM:614322
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Leukemia OMIM:619951
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Nescav Syndrome
Cerebral atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebellar atrophy, Microcephaly,... OMIM:614255
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia OMIM:617091
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Truncal ataxia, Cerebellar atrophy, Microcephaly OMIM:611726
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia OMIM:618067
Ciliary Dyskinesia, Primary, 45
Immotile cilia OMIM:618801
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Micrognathia, Cerebellar hypoplasia ORPHA:1538
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Anteverted nares, Abnormality of the ureter, Campto... ORPHA:2311
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta... OMIM:610185
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Dandy-Walker malformation, Progressive microcephaly, Cerebellar atrophy, Short... ORPHA:438178
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, High palate, Recurrent lower respiratory tract infections OMIM:620194
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Abnormal aortic morphology, H... ORPHA:251071
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, C... ORPHA:284332
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Mandibular prognathia, Elbow flexion contrac... OMIM:619040
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Colpocephaly, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Hypoplastic left heart, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Spinocerebellar Ataxia 37
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:615945
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Macrocephaly, Ataxia ORPHA:99966
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, Ventriculomegaly, Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Spinocerebellar Ataxia Type 38
Difficulty walking, Cerebellar atrophy, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Monosomy 18Q
Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, Hydrocephalus, Absence of t... ORPHA:1600
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Cleft palate, Pu... OMIM:313850
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... OMIM:620066
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Dextrotransposition of the great arteries, Ventricular septal defect, Lateral ventri... OMIM:619995
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Carpenter Syndrome 1
Transposition of the great arteries, Spina bifida occulta, High palate, Pulmonic stenosis, Tetral... OMIM:201000
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Intestinal malrotation, M... OMIM:615524
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Sensorineural hearing impai... ORPHA:363710
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly, Secundum atrial septal defect, Cleft soft palate OMIM:620183
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Loss of amb... OMIM:600143
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory spleen, Interrupted aortic arc... OMIM:164280
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
8P23.1 Duplication Syndrome
Pulmonic stenosis, Hydronephrosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Desmosterolosis
Short nose, Rhizomelia, Anteverted nares, Total anomalous pulmonary venous return, Micrognathia, ... OMIM:602398
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Cerebellar cortical atrophy, Abnormal pons morphology ORPHA:171622
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent d... ORPHA:3304
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Eleva... OMIM:608779
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Respiratory distress, Dyspnea, Low-set ears, Mandibular aplasia, Microcephaly, Micr... ORPHA:1832
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy OMIM:614022
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Pulmonic stenosis... OMIM:601186
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Renpenning Syndrome
High, narrow palate, Hypospadias, Heterotaxy, Mandibular prognathia, Anal atresia, Broad columell... ORPHA:3242
Sweeney-Cox Syndrome
Patent foramen ovale, High palate, Anal atresia, Asplenia, Median cleft palate, Velopharyngeal in... OMIM:617746
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Vesicoureteral reflux, Abnormal aortic morphology, Micrognathia,... ORPHA:1166
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Neuronal loss in central nervous system, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrop... OMIM:615362
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Spinocerebellar Ataxia 43
Limb ataxia, Cerebellar vermis atrophy, Ataxia, Gait ataxia OMIM:617018
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ... OMIM:616733
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, High palate OMIM:620242
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Diffuse alveolar hemor... OMIM:614034
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Hydrocephalus, Abnormalit... ORPHA:2306
Fried Syndrome
Hydrocephalus, Gait disturbance, Abnormal cerebellum morphology, Hearing impairment, Macrotia ORPHA:85335
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Down Syndrome
Narrow palate, Atrioventricular canal defect, Aganglionic megacolon, Duodenal atresia, Leukemia, ... ORPHA:870
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ... OMIM:253800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Cerebellar atrophy, Gait ataxia, Growth de... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Secundum atrial septal defect OMIM:618109
Dandy-Walker Syndrome
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Ag... OMIM:220200
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Microcephaly, Ventriculomegaly, Inability to walk, Respiratory distress OMIM:617977
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Stroke ORPHA:99105
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Respiratory distress, Mandibular condyle hypoplasia, Temporo... OMIM:614669
Marden-Walker Syndrome