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
increased blood urea nitrogen level Dnah5tm1b(KOMP)Wtsi HET Early adult 9.30×10-05
increased circulating calcium level Dnah5tm1b(KOMP)Wtsi HET Early adult 2.76×10-06
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

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 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
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:608644
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... OMIM:618254
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615504
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615505
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotranspo... OMIM:306955
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:300991
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... OMIM:615482
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615500
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... OMIM:613807
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Adamantinoma
Hypercalcemia ORPHA:55881
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... OMIM:613193
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni... OMIM:270100
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... ORPHA:185
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Immoti... OMIM:614935
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... OMIM:617092
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decrea... OMIM:620197
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death... OMIM:608978
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... OMIM:613808
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, Polysplenia OMIM:612776
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Holzgreve Syndrome
Renal agenesis, Hypoplastic left heart, Renal hypoplasia OMIM:236110
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, V... ORPHA:171703
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology OMIM:610852
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Abs... OMIM:244400
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... ORPHA:1666
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... OMIM:314390
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula... OMIM:619123
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... ORPHA:210122
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... OMIM:619608
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... OMIM:202650
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Patent ductus art... ORPHA:2863
Cardiac-Urogenital Syndrome
Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary sinus enlargement,... OMIM:618280
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F... ORPHA:2184
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Congenital diaphragmatic hernia, Short thumb, Patent ductus arteriosus, Ab... ORPHA:1120
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Ectopic kidney, Intestinal... ORPHA:401935
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... OMIM:616777
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Tetralogy ... ORPHA:1926
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Cor pulmonale, Upper airway obstruction, Cleft palat... OMIM:261800
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Ventriculomegal... OMIM:617397
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... ORPHA:494424
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Growth delay, Hear... OMIM:617899
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... OMIM:618699
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Pa... OMIM:300963
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce... ORPHA:2703
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Ciliary Dyskinesia, Primary, 50
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms OMIM:620356
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... OMIM:600987
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren... OMIM:612946
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... OMIM:612649
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi... ORPHA:1909
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Double... ORPHA:3426
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Microcephaly, Progressive microcephaly, Ventriculomegaly OMIM:613402
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspl... OMIM:618276
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Situs inversus ... ORPHA:990
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Short stature, Gait ataxia, Progressive microcephaly, Atrop... OMIM:617862
Cat Eye Syndrome
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... OMIM:115470
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Mosaic Trisomy 9
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina... ORPHA:99776
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Holt-Oram Syndrome
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:392
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... ORPHA:171445
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Missing ribs, Intestinal malrotation, Respir... ORPHA:1759
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Respiratory i... OMIM:619909
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Microlissencephaly
Cerebellar atrophy, Pneumonia, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly ORPHA:1083
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... OMIM:619343
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He... OMIM:612541
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Ataxia, Cerebral atrophy, Macrocephaly, Ventriculomegaly OMIM:613925
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca... OMIM:613686
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia, Anomalous origin of left coronary artery from the pulmonary arter... ORPHA:2326
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper ... OMIM:614868
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Colonic Atresia
Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyo... OMIM:616866
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Cleft pa... OMIM:618021
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... OMIM:220210
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft pal... OMIM:614261
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopu... OMIM:620025
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Cerebral atrophy, Hearing impairment OMIM:619090
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly, Macrocephaly OMIM:611808
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... OMIM:600001
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Short stature, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait atax... OMIM:616291
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Chops Syndrome
Anteverted nares, Ventricular septal defect, Tracheomalacia, Splenomegaly, Patent ductus arterios... OMIM:616368
Bardet-Biedl Syndrome 17
Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic... OMIM:615994
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Jaw swelling, Ventriculomegaly, Gait ataxia OMIM:619323
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... ORPHA:2255
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy, Microcephaly OMIM:618741
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:179613
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Hearing impairment ORPHA:217012
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Lissencephaly 4
Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Primary microcephaly, Agenesis ... OMIM:614019
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Atrial Septal Defect, Sinus Venosus Type
Dyspnea, Anomalous pulmonary venous return, Airway obstruction, Right ventricular dilatation, Str... ORPHA:99105
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Keutel Syndrome
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... OMIM:245150
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Shuffling gait, Macrocephaly, Agenesis of corpus call... OMIM:303350
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral oligodactyly, Unilateral hypoplasia of ... OMIM:173800
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... OMIM:615996
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Camptodactyly of finge... ORPHA:2311
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Microcephaly, Chiari type I malformation, Spastic gait OMIM:619742
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Pagod Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary ... ORPHA:991
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Microcephaly, Micrognathia, Dyspnea, Respiratory ... ORPHA:1832
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, L... OMIM:619951
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Autosomal Spastic Paraplegia Type 30
Ataxia, Unsteady gait, Scissor gait, Diffuse cerebellar atrophy, Spastic gait ORPHA:101010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615938
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Gait disturbance ORPHA:98766
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, High p... ORPHA:261120
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular dilatation, Atelecta... OMIM:613177
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Desmosterolosis
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Micrognathia... ORPHA:35107
Heart And Brain Malformation Syndrome
High, narrow palate, Dandy-Walker malformation, Ventricular septal defect, Interrupted aortic arch OMIM:616920
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy OMIM:611252
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Microcephaly, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Retrog... OMIM:300280
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Pr... OMIM:608779
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly OMIM:618730
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Microcephaly OMIM:618468
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... OMIM:614876
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Left ventricular h... OMIM:619048
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Velocardiofacial Syndrome
Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... OMIM:192430
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
8P23.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,... ORPHA:251071
Nescav Syndrome
Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Cerebral atrophy, Cerebellar vermis ... OMIM:614255
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Respiratory insufficiency ORPHA:2111
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticomedullary ... OMIM:616733
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis OMIM:253240
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... ORPHA:3092
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Micrognathia ORPHA:1538
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media, High-frequency hearing impairment OMIM:300455
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Ventriculomegaly, Microcephaly OMIM:617977
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Microcephaly OMIM:611726
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Sens... OMIM:610185
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia, Macrocephaly ORPHA:99966
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Short stature, Inability to walk, Growth delay, Progressive microcephaly, Mac... ORPHA:438178
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Progressive cerebellar ataxia, Pr... ORPHA:284332
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... ORPHA:1329
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:615937
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec... OMIM:601186
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... OMIM:618619
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections, High palate OMIM:620194
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria... ORPHA:3304
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resis... ORPHA:99104
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Monosomy 13Q34
Common atrium, Hepatic steatosis, Epistaxis, Pulmonic stenosis ORPHA:96168
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Cereb... OMIM:610333
Absence Of The Pulmonary Artery
Orthopnea, Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Patent ductus ... ORPHA:980
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Cerebellar atrophy, Short stature, Microcephaly, Cerebral atrophy, Dysmetria, Gait... ORPHA:320385
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Respiratory insufficien... ORPHA:1166
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegaly OMIM:619121
Spinocerebellar Ataxia 37
Cerebellar atrophy, Unsteady gait, Ataxia OMIM:615945
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Carpenter Syndrome 1
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spina bifida occulta, High p... OMIM:201000
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Respiratory insufficiency, Athetosis, Secondary microcepha... OMIM:618241
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Difficulty walking, Gait ataxia ORPHA:423296
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Congenital Gerbode Defect
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... ORPHA:99095
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... OMIM:313850
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Gastroesophageal reflux, Respiratory distress OMIM:616974
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ... OMIM:619995
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Dysdiadochokinesis, Gait disturbance, Falls, Truncal ataxia, Di... ORPHA:363710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc... ORPHA:163979
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Cleft soft palate, Ventriculomegaly OMIM:620183
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High ... OMIM:617746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... OMIM:253800
Auriculocondylar Syndrome 2A
Respiratory distress, Overfolding of the superior helices, Apnea, Posteriorly rotated ears, Micro... OMIM:614669
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Microcephaly, ... OMIM:610127
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Hypospadias, Prominent nose, High, narrow palate,... ORPHA:3242
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Los... OMIM:600143
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy ORPHA:171622
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... ORPHA:1200
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Cryptorchidism OMIM:618109
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, C... OMIM:602398
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Transaldolase Deficiency
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper... ORPHA:101028
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst OMIM:174050
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t... OMIM:615524
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Protruding ear, Otitis media, Macrocephaly, Chronic otitis medi... ORPHA:908
Renal Coloboma Syndrome