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Gene: Dnaaf11 MGI:1859553

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dynein axonemal assembly factor 11
Synonyms:
Lrrc6,  LRTP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dnaaf11 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 Dnaaf11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... OMIM:614935
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244

The table below shows human diseases predicted to be associated to Dnaaf11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Reduced respiratory ciliary beati... OMIM:618300
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Situs ... OMIM:613807
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Dynein arm defect of respiratory motile cilia, Si... OMIM:614679
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn... OMIM:614874
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... OMIM:616037
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... OMIM:613808
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... OMIM:613193
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Cilia... OMIM:612518
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S... OMIM:615444
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... OMIM:614017
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc... OMIM:612444
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... OMIM:614935
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... OMIM:606763
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:608644
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:615481
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,... OMIM:618254
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... OMIM:608647
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
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, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Situ... OMIM:244400
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Decreased nasal nitric oxide, Cili... OMIM:615872
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Respiratory insufficiency, Duode... ORPHA:1759
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotranspo... OMIM:306955
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... OMIM:314390
Meacham Syndrome
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Ciliary Dyskinesia, Primary, 50
Absent inner dynein arms, Coiled sperm flagella, Chronic bronchitis, Short sperm flagella, Chroni... OMIM:620356
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Skraban-Deardorff Syndrome
Right aortic arch, Ventriculomegaly, Ventricular septal defect, Cleft palate OMIM:617616
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, High palate, Anal atresia ORPHA:2863
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... OMIM:605376
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Agenesis of ... OMIM:601186
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen... OMIM:619657
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux ORPHA:250994
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia, Pulmonar... OMIM:106700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid... ORPHA:2326
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary si... OMIM:618280
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular... OMIM:264480
Velocardiofacial Syndrome
Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... OMIM:192430
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Dextrocardia, Situs inversus totalis OMIM:618948
Mosaic Trisomy 9
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve mor... ORPHA:99776
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor... OMIM:607091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Atrial septal defect, Ventriculomegaly OMIM:603387
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... ORPHA:2437
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia OMIM:618067
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Cleft pala... ORPHA:1926
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascend... ORPHA:449400
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Elli... OMIM:248700
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Coarctation of aorta, High palate, Atrioventricular canal defect OMIM:618929
Acalvaria
Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly ORPHA:945
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... ORPHA:90308
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Abnormal ... ORPHA:220493
Alg3-Cdg
Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Neural tube... ORPHA:79321
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficien... OMIM:610333
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... ORPHA:2306
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Thanatophoric Dysplasia Type 2
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypopl... ORPHA:93274
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... OMIM:617092
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... ORPHA:261197
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Double outlet right ventricl... OMIM:220210
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atr... OMIM:277380
Fryns Syndrome
Dandy-Walker malformation, Ventriculomegaly, Aganglionic megacolon, Intestinal malrotation, Crypt... ORPHA:2059
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Ventriculomegaly ORPHA:858
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia ... ORPHA:96092
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
3C Syndrome
Recurrent respiratory infections, Dandy-Walker malformation, Ventriculomegaly, Ventricular septal... ORPHA:7
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... OMIM:276950
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Stridor, Gastroesophageal reflux, Dysphagia, Bronchioli... OMIM:230900
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepat... OMIM:619111
Fried Syndrome
Hydrocephalus, High palate ORPHA:85335
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Venous insufficiency, Abnormality of the spleen, Abnor... ORPHA:33276
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pyloric steno... OMIM:218350
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
Poland Syndrome
Dextrocardia OMIM:173800
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defe... OMIM:614846
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent duct... OMIM:614576
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... OMIM:619472
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Thanatophoric Dysplasia
Hydrocephalus, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Atrial ... ORPHA:2655
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect... OMIM:609029
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... OMIM:313850
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronary artery fistula, A... OMIM:614294
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, C... OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Triploidy
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Meningocele, A... ORPHA:3376
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurooculorenal Syndrome
Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral ... OMIM:620305
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Mecke... ORPHA:163961
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Cryptorchid... ORPHA:3310
Monosomy 18Q
Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial septal defect, Patent d... ORPHA:1600
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Abnormal ... OMIM:300514
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, High palate OMIM:269920
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, High, narrow palate, Mitral valve prolapse ORPHA:2183
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venou... ORPHA:60015
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Kleeblattschaedel
Hydrocephalus OMIM:148800
Digeorge Syndrome
High, narrow palate, High palate, Gastroesophageal reflux, Hepatic steatosis, Bifid uvula, Atelec... OMIM:188400
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Cleft palate, Vascular ring OMIM:616954
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect... ORPHA:96170
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr... ORPHA:314588
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros... OMIM:615630
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Neonatal respi... OMIM:310400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, High, narrow palate, Pyloric steno... ORPHA:2409
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Congenital Sialidosis Type 2
Hepatomegaly, Protruding tongue, Respiratory tract infection, Cherry red spot of the macula, Hydr... ORPHA:93400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Hydrocephalus ORPHA:171839
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Ventriculomegaly OMIM:175700
Fg Syndrome Type 1
Ventriculomegaly, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pylo... ORPHA:93932
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, ... OMIM:612863
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Charge Syndrome
Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Pulmonary artery atresia,... OMIM:214800
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... OMIM:612284
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Distal Duplication 5Q
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly OMIM:304100
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... OMIM:600001
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Rubinstein-Taybi Syndrome 1
Respiratory distress, Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, H... OMIM:180849
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,... ORPHA:2461
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Hi... OMIM:612582
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-W... OMIM:613153
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/H... ORPHA:1834
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... ORPHA:567
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Abnormality of the spleen, Pat... ORPHA:3097
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Hydrocep... ORPHA:77298
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, High palate, Ventriculomegaly OMIM:609757
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec... ORPHA:2255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Restrictive ventilatory defect, ... ORPHA:1900
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat... OMIM:616145
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia OMIM:241800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Gastroesophageal reflux, Tracheomalac... ORPHA:513456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Cardiomyopathy, Hydrocephalus OMIM:613155
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate ORPHA:398189
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Cho... OMIM:614886
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Splenomegaly, Asthm... OMIM:309900
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Choroid ... OMIM:267010
Griscelli Syndrome
Encephalocele, Hepatomegaly, Splenomegaly, Jaundice, Pyloric stenosis, Hydrocephalus, Hepatitis ORPHA:381
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate OMIM:614120
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism ORPHA:624
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lun... ORPHA:1860
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy,... ORPHA:398124
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate ORPHA:2635
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Abnormality of the spleen, Splenome... ORPHA:2072
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:2962
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil... ORPHA:536545
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Splenomegaly, Hydrocephalus, Bronchogenic cyst ORPHA:2969
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocep... ORPHA:475
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Splenomegaly, Myocarditis... ORPHA:3452
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Submucous clef... OMIM:300166
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Hydrocephalus, ... ORPHA:137667
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspiratory stridor OMIM:207950
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Apnea, Portal hypertension,... ORPHA:1454
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hydrocephalus, High, narrow palate ORPHA:2181
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Hydrocephalus, Cleft palate, Neonatal death, Decreased tes... ORPHA:85284
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mirage Syndrome
Cryptorchidism, Esophageal stricture, Patent ductus arteriosus, Hydrocephalus, Intracranial hemor... OMIM:617053
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Abnormal mitochond... ORPHA:17
Trisomy 1Q
Ventriculomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... OMIM:253800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, L... ORPHA:90065
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ... OMIM:614424
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... ORPHA:1662
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... ORPHA:353281
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation OMIM:219730
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Menin... OMIM:130720
Thymic Carcinoma
Dyspnea, Abnormal vena cava morphology, Cough ORPHA:99868
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, High palate OMIM:300558
Heart And Brain Malformation Syndrome
Ventricular septal defect, High, narrow palate, Gastroesophageal reflux, Interrupted aortic arch,... OMIM:616920
Temple Syndrome
Decreased testicular size, Cryptorchidism, Hydrocephalus, Cleft palate, High palate, Bifid uvula OMIM:616222
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa... ORPHA:353277
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus ORPHA:163596
Temple Syndrome
Cryptorchidism, Hydrocephalus, Bifid uvula ORPHA:254516
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Cardiomyopathy, V... ORPHA:370959
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Desmosterolosis
Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Submucous cleft hard palate, Hydr... ORPHA:35107
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
H Syndrome
Malabsorption, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Hepatosplenomegaly, Azoosper... ORPHA:168569
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Lobulated tongue, Dandy-Walker malformation, Accessory spleen,... OMIM:249000
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, Cleft palate, Macroglossia, High palate, Hypoplastic lef... ORPHA:261290
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Functional abnormality of the gastrointestinal tract ORPHA:2770
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, Respirator... ORPHA:1865
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... OMIM:617506
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Houge-Janssens Syndrome 1
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:616355
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent respiratory infections, Cor triatriatum, Prominent superficial veins, Sec... OMIM:612541
Crouzon Syndrome
Hydrocephalus, Respiratory insufficiency, Narrow palate ORPHA:207
Fanconi Anemia
Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of ... ORPHA:84
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Arteriovenous malformation, Ventriculomegaly ORPHA:60040
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Vasculitis... ORPHA:228123
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Cle... ORPHA:2075
Carpenter Syndrome 2
Dextrocardia, Bilateral cryptorchidism, Cryptorchidism, Situs inversus totalis, High, narrow pala... OMIM:614976
Holoprosencephaly
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:2162
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Prominent superficial veins, High palate, Hydrocephalus OMIM:612940
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia OMIM:601499
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:1895
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi... OMIM:253220
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Trisomy 8P
Dandy-Walker malformation, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, M... ORPHA:264450
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Hydrocephalus, ... ORPHA:505248
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, High, narrow palate, Hydrocephalus, He... ORPHA:228308
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... OMIM:619608
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocep... ORPHA:163979
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Malabsorptio... ORPHA:579
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Narrow palate, ... ORPHA:1555
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca... ORPHA:2119
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Hydrocephal... ORPHA:536467
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Asthma, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal de... OMIM:618162
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, High palate, Pleural effusion, Dandy-Walke... OMIM:617822
1Q44 Microdeletion Syndrome
Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ventricul... ORPHA:238769
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect, Cleft palate OMIM:147800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Gastroesophageal reflux, High palate, Ventriculomegaly OMIM:619833
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Clef... OMIM:164210
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, High... ORPHA:250989
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia, Patent ductus ... ORPHA:391641
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Cleft palate, Abnormal pattern of res... ORPHA:220497
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Rec... OMIM:602535
Hydrolethalus
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula ORPHA:2189
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Foix-Alajouanine Syndrome
Arteriovenous fistula, Myelopathy, Cervical myelopathy, Venous malformation ORPHA:79093
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Aortic ... OMIM:616914
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... ORPHA:93259
Tenorio Syndrome
Apnea, Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly OMIM:616260
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... OMIM:125310
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Clef... OMIM:311200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Poland Syndrome
Encephalocele, Dextrocardia, Cryptorchidism, Abnormality of the liver, Atrial septal defect, Spin... ORPHA:2911
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Ventriculomegaly OMIM:620156
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,... OMIM:309801
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... ORPHA:991
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... ORPHA:1780
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... ORPHA:564
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Tachypnea ORPHA:2318
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... OMIM:602782
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia OMIM:104350
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, ... OMIM:607014
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Prominent veins on trunk, Abnormal breath sound, Cough, Abnormal v... ORPHA:97289
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hyp... ORPHA:3309
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Cle... ORPHA:2166
Rhombencephalosynapsis
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... ORPHA:59315
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia OMIM:312190
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Abnormal myocardium morphology, S... ORPHA:581
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalu... ORPHA:616
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Dyspnea, Right atrial enlargement, ... ORPHA:1677
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Stroke, Cerebral hemorrhage, Varicose veins OMIM:263400
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly,... OMIM:270400
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Esophageal atresia, Pyloric stenosis... OMIM:101200
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Malabsorption, Protruding tongue, ... ORPHA:2268
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,... OMIM:616482
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hydrocephalus, Ventriculomegaly ORPHA:2169
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Coarctation of aorta, Trache... ORPHA:268249
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Cleft palate, Total anomalous pulmonary venous return, V... OMIM:602398
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Apnea, Tracheomalacia, Patent d... OMIM:300373
Pallister-Hall Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Clef... OMIM:146510
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ... OMIM:239300
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard... OMIM:261740
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig... OMIM:182212
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmonary arteriovenous malformation... OMIM:610655
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cleft palate, St... ORPHA:137675
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Patent ductus arteriosus, Gastroesophageal ref... OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hydrocephalus, ... OMIM:619575
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation ORPHA:459061
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, High palate ORPHA:2180
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection... OMIM:253200
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Protruding tongue, Cryp... OMIM:612289
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Hydrocephalus, Cleft pal... OMIM:305450
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Esophageal atresia, Hydrocephalus, Tracheoesop... ORPHA:3412
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Anal atresia ORPHA:3301
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Splenomegaly, Hy... ORPHA:93473
Pontocerebellar Hypoplasia, Type 7
Apnea, Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly OMIM:614969
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Pleural effusion, Varicose veins, Gastroesophageal reflux, Chylot... OMIM:616843
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Cleft palate, Mitral valve prolapse, Aortic r... OMIM:245600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Large placenta, Pu... ORPHA:96334
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation, Spinal dysraphism OMIM:612918
47,Xyy Syndrome
Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Dys... ORPHA:508488
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Liposarcoma
Varicose veins ORPHA:69078
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventricu... ORPHA:500055
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Hepatic calcification, Cardiomyopathy... ORPHA:157
Joubert Syndrome 2
Encephalocele, Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Hydrocephalus... OMIM:608091
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Hydroce... ORPHA:1546
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform... OMIM:217090
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Ventriculomegaly, Varicose veins, Pulmonic stenosis, Aortic dissection, Vascular dilatation OMIM:618343
Apert Syndrome
Esophageal atresia, Hydrocephalus, Cleft palate, Narrow palate, Respiratory insufficiency, Ectopi... ORPHA:87
Walker-Warburg Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid... ORPHA:899
Sturge-Weber Syndrome
Abnormal cerebral vascular morphology, Pulmonary embolism, Hydrocephalus, Stroke, Dysphagia ORPHA:3205
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Apnea, Ventriculomegaly ORPHA:395
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Narrow palate, Mitral ... ORPHA:536532
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft pa... OMIM:300712
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome... OMIM:613603
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalu... ORPHA:96121
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Respiratory failure, Stillbirth, H... OMIM:259720
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septa... OMIM:616546
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Hy... OMIM:147791
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Pyloric stenosis, Hydrocephalus, Pneumothorax, Respira... OMIM:218040
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirt... OMIM:243605
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Hepatosplenomegaly OMIM:259710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Ascending aorta hypoplasia, High palate, Aspiration, Hepatic steatosis, Neonatal respirato... OMIM:619503
Varicose Veins
Varicose veins OMIM:192200
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly OMIM:617866
Muenke Syndrome
High, narrow palate, Hydrocephalus ORPHA:53271
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... OMIM:153400
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia ORPHA:2839
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cleft palate, Gl... ORPHA:90652
Hajdu-Cheney Syndrome
Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Intes... ORPHA:955
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus, High palate, Respiratory insufficiency OMIM:620351
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial septal d... OMIM:257300
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoesophageal fi... OMIM:227646
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Cryptorchidism, Hydro... ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus OMIM:615249
Livedoid Vasculopathy
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke ORPHA:542643
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, Cleft palate ORPHA:33001
Charge Syndrome
Aortic arch aneurysm, Abnormal soft palate morphology, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:138
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Varicose veins, Oligozoospermia OMIM:314300
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Neonatal respiratory distress, Aortic di... ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, L... OMIM:613154
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... ORPHA:163956
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect ORPHA:166035
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:259700
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... ORPHA:363958
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Umbilical hernia OMIM:613776
Hemangioblastoma
Hydrocephalus ORPHA:252054
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Peho Syndrome
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly ORPHA:2836
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Bifid uv... OMIM:123790
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, P... OMIM:115150
Dubowitz Syndrome
Anal stenosis, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard palate, Asthm... ORPHA:235
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia, Hydrocephalus OMIM:602361
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia ORPHA:3016
Kabuki Syndrome 1
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption, Cryptorchidism, ... OMIM:147920
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median to... OMIM:312870
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Cryptorchidism, High, narrow palate, Mitral valve prolapse, A... ORPHA:2462
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Cleft palate ORPHA:1812
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Perlman Syndrome
Distal ileal atresia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch,... OMIM:267000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Cleft palate OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Cole-Carpenter Syndrome 2
Hydrocephalus, High palate OMIM:616294
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroceph... ORPHA:261337
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly ORPHA:457284
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:585
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Hydr... OMIM:102500
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Clef... ORPHA:1272
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Coarctation of aorta, Abnormal cardiac septum morpho... ORPHA:2322
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mes... OMIM:136140
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Hydrocephalus, Cleft palate... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Hydrocephalus, Cleft palate... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Hydrocephalus, Cleft palate... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Hydrocephalus, Cleft palate... ORPHA:93924
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, High palate... OMIM:619512
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Upper airway obstruction OMIM:207410
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hydrocephalus OMIM:620155
Fanconi Anemia, Complementation Group R
Hydrocephalus, Anal atresia OMIM:617244
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Vascular dilatation, Hepatiti... ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, C... OMIM:236670
Meige Disease
Varicose veins, Pleural effusion ORPHA:90186
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Ventricular septal defect, Aqueductal stenosis, Velopharyngeal insufficien... OMIM:154400
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Tracheobronchomalacia, ... OMIM:114290
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdo... ORPHA:805
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Hydrocephalus, Res... OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly OMIM:613150
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Peters Plus Syndrome
Intestinal fistula, Ventriculomegaly, Cryptorchidism, Patent ductus arteriosus, Bicuspid pulmonar... ORPHA:709
Arachnoiditis
Hydrocephalus ORPHA:137817
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... OMIM:109400
15Q Overgrowth Syndrome
High, narrow palate, Hydrocephalus, High palate, Pulmonary arterial hypertension, Bifid uvula, Da... ORPHA:314585
Raine Syndrome
Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, Neonatal death OMIM:259775
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, P... OMIM:607872
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia ORPHA:91348
Pfeiffer Syndrome
Hydrocephalus, High palate OMIM:101600
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflu... ORPHA:2044
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Mohr Syndrome
Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue OMIM:252100
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Dysphagia ORPHA:58
Crouzon Syndrome
Hydrocephalus, High palate OMIM:123500
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Median cleft palate, Ventriculomegaly OMIM:612651
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, High palate OMIM:618590
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Holoprosencephaly 7
Bilateral cleft palate, Alobar holoprosencephaly, Hydrocephalus, Cleft palate, Lobar holoprosence... OMIM:610828
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Hydrocephalus, Cleft palate, Narrow palate, High palate, Dandy-W... OMIM:605627
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, High, narrow pal... OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Resp... ORPHA:2556
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, T... OMIM:107480
Renal Nutcracker Syndrome
Varicose veins, Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery ORPHA:71273
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, High, narrow palate, Pyloric stenosis, H... ORPHA:3472
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate ORPHA:300570
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus, Cleft palate, High palate ORPHA:1106
Fraser Syndrome 3
Hydrocephalus, Stillbirth, Abnormal lung lobation OMIM:617667
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, High palate ORPHA:2720
Cousin Syndrome
Hydranencephaly, Microglossia, Hydrocephalus, Cleft palate OMIM:260660
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia, Hydrocephalus OMIM:616007
Monosomy 9Q22.3
Umbilical hernia, Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Mend Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve... ORPHA:401973
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, High, narrow palate, Hydrocephalus, Cleft palate, Stillbirth, High palate, Short ... OMIM:208150
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida OMIM:162200
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Myelomeningocele, Hydrocephal... OMIM:219000
Hypermobile Ehlers-Danlos Syndrome
Apnea, Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Asce... ORPHA:285
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Anal atresia OMIM:614083
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Gastrointestinal infarctions, Peripheral arteriovenous fistula, Cryptorchidi... ORPHA:286
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Respiratory insufficiency, Respiratory... OMIM:304120
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus OMIM:101800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, High, narrow palate, Hydrocephalus, Oligozoospermia, Anteriorly placed anus, Stil... ORPHA:95699
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenterit... ORPHA:309282
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Persistent left superi... OMIM:216400
Oeis Complex
Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, ... OMIM:258040
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Meningioma
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... ORPHA:2495
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Splenomegaly, Cardiomyopathy OMIM:616084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Mend Syndrome
Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus, Hydroc... OMIM:261540
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Hydrocephalus, Cleft palate, Abnormal heart morphology, Ant... OMIM:218600
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... OMIM:236680
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Malrotation of small ... OMIM:194190
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Mowat-Wilson Syndrome
Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sling, Cryptorchidism, Pyloric... OMIM:235730
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Prominent scalp veins, Pneumonia, Secundum atrial septal defect... OMIM:264090
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus ORPHA:65285
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Hydrocephalus, High palate, Patent foramen ovale ORPHA:221120
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Jaundice, Hypoglycorrhachia, Hepatosplenomegaly ORPHA:168577
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:619325
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... ORPHA:363700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Hydrocephalus, Hepatic steatosis, Decreased testicular... OMIM:619321
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Neurofibromatosis Type 1
Neoplasm of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Arterial stenosis ORPHA:636
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Hydrocephalus, Cleft palate, Bi... ORPHA:2658
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Cryptorchidism, Asthma, Patent foramen ovale, Patent duct... OMIM:619841
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Frontal en... OMIM:268300
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, S... OMIM:610829
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Dysphagia ORPHA:637
Focal Dermal Hypoplasia
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Myelomeningocele, Hydrocephalus, Cleft pal... OMIM:305600
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... ORPHA:322
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Cryptorchidism, Congenital malformation of the left heart, Hydrocephalus, ... ORPHA:3455
Gitelman Syndrome
Neoplasm of the pancreas, Varicose veins, Pericardial effusion, Respiratory distress ORPHA:358
Craniopharyngioma
Hydrocephalus ORPHA:54595
Hypoplasminogenemia
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation ORPHA:722
Cockayne Syndrome B
Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Hepatomegaly OMIM:133540
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, High palate, Ventriculomegaly OMIM:617011
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, High palate, Ventriculomegaly ORPHA:457359
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:3042
Norrie Disease
Venous insufficiency, Cryptorchidism ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dnaaf11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnaaf11.

No publications found that use IMPC mice or data for Dnaaf11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dnaaf11tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dnaaf11tm209524(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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