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Gene: Odad4 MGI:1921657

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

outer dynein arm complex subunit 4

Synonyms:

Ttc25, 4933404O19Rik

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 Odad4 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.

Human diseases associated with Odad4 (2 diseases)
Human diseases predicted to be associated with Odad4 (514 diseases)

The table below shows human diseases associated to Odad4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primary Ciliary Dyskinesia		Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect...	ORPHA:244
Ciliary Dyskinesia, Primary, 35		Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent res...	OMIM:617092

The table below shows human diseases predicted to be associated to Odad4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Reduced FEV1/FVC ratio,...	OMIM:611884
Ciliary Dyskinesia, Primary, 25	Dextrocardia, Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Situs...	OMIM:615482
Ciliary Dyskinesia, Primary, 20	Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory insufficien...	OMIM:615067
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Recurrent lower r...	OMIM:618254
Ciliary Dyskinesia, Primary, 30	Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ...	OMIM:616037
Ciliary Dyskinesia, Primary, 17	Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chron...	OMIM:614679
Ciliary Dyskinesia, Primary, 14	Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ...	OMIM:613807
Ciliary Dyskinesia, Primary, 2	Dextrocardia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory ...	OMIM:606763
Ciliary Dyskinesia, Primary, 38	Dextrocardia, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Situs inversus totalis, Ch...	OMIM:618063
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Cough, Decreas...	OMIM:619607
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Congenital Pseudoarthrosis Of The Clavicle	Dextrocardia, Situs inversus totalis	ORPHA:66630
Atrioventricular Septal Defect, Susceptibility To, 2	Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia	OMIM:606217
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Wheezing, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis	OMIM:618948
Ciliary Dyskinesia, Primary, 23	Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie...	OMIM:615451
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Myelomeningocele, Situs inversus totalis, Restrictive ventilatory defect, Spina bif...	OMIM:613686
Ciliary Dyskinesia, Primary, 3	Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurr...	OMIM:608644
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Transposition of the great arteries, Abdominal situs inversus	OMIM:614779
Alexander Disease	Hydrocephalus, Increased CSF protein	OMIM:203450
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do...	OMIM:605376
Primary Ciliary Dyskinesia	Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect...	ORPHA:244
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Right Atrial Isomerism	Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Dextrocardia, Ventricular septal defect, Atrioventricular canal defect	OMIM:613751
Dextrocardia	Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis...	ORPHA:1666
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Ciliary Dyskinesia, Primary, 28	Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total...	OMIM:615505
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si...	OMIM:616749
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
Thoraco-Abdominal Enteric Duplication	Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Respiratory insufficiency	ORPHA:1759
Ciliary Dyskinesia, Primary, 9	Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Cough, R...	OMIM:612444
Ciliary Dyskinesia, Primary, 26	Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ...	OMIM:615500
Ciliary Dyskinesia, Primary, 36, X-Linked	Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Cough, Recurrent respirato...	OMIM:300991
Ciliary Dyskinesia, Primary, 18	Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Situs inversus total...	OMIM:614874
Ciliary Dyskinesia, Primary, 43	Productive cough, Abdominal situs inversus, Neonatal respiratory distress, Bronchiectasis, Chroni...	OMIM:618699
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Dandy-Walker malformation, Hydrocephalus	ORPHA:1538
Hydrocephalus, Autosomal Dominant	Dandy-Walker malformation, Hydrocephalus	OMIM:123155
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl...	ORPHA:1330
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Primary Pulmonary Hypoplasia	Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumot...	ORPHA:2257
Ciliary Dyskinesia, Primary, 16	Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, ...	OMIM:614017
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation	ORPHA:945
Dextrocardia With Unusual Facies And Microphthalmia	Dextrocardia	OMIM:221950
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Scimitar Syndrome	Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morphology, Anomalous pulmona...	ORPHA:185
Hydrocephalus, Congenital, 3, With Brain Anomalies	Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus	OMIM:617967
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Band Heterotopia	Hydrocephalus, Ventriculomegaly	OMIM:600348
Ciliary Dyskinesia, Primary, 40	Rhinitis, Abnormal heart morphology, Cough, Situs inversus totalis	OMIM:618300
Ciliary Dyskinesia, Primary, 19	Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respira...	OMIM:614935
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Ciliary Dyskinesia, Primary, 13	Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Situs inversus totalis	OMIM:613193
Ciliary Dyskinesia, Primary, 15	Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ...	OMIM:613808
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Dextrocardia, Situs inversus totalis	OMIM:613095
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Ciliary dyskinesia	OMIM:612518
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Czeizel-Losonci Syndrome	Dextrocardia, Myelomeningocele, Pulmonary hypoplasia, Spina bifida, Hydrocephalus, Spina bifida o...	ORPHA:2437
Double Outlet Right Ventricle	Ventricular septal defect, Truncus arteriosus, Tachypnea, Double outlet right ventricle, Heterota...	ORPHA:3426
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Isomerism, Hydrocephalus	OMIM:314390
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia	ORPHA:2863
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Ciliary Dyskinesia, Primary, 22	Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total...	OMIM:615444
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Hydrocephalus, Respiratory fail...	OMIM:276950
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Ciliary Dyskinesia, Primary, 35	Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent res...	OMIM:617092
Holoprosencephaly 5	Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph...	OMIM:609637
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Heterotaxy, Visceral, 1, X-Linked	Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ...	OMIM:306955
Congenital Hydrocephalus	Colpocephaly, Abnormal heart morphology, Hydrocephalus, Ventriculomegaly	ORPHA:2185
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totali...	OMIM:244400
Kleeblattschaedel	Hydrocephalus	OMIM:148800
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Hydrocephalus	ORPHA:250994
Poland Syndrome	Dextrocardia	OMIM:173800
Renpenning Syndrome	Heterotaxy	ORPHA:3242
Developmental And Epileptic Encephalopathy 49	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:617281
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Abnormal cardiac septum morphology	OMIM:614294
Meacham Syndrome	Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Stillbirth, Cardi...	OMIM:608978
Bardet-Biedl Syndrome 17	Dextrocardia, Situs inversus totalis	OMIM:615994
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:613154
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Catel-Manzke Syndrome	Dextrocardia, Ventricular septal defect, Umbilical hernia, Overriding aorta	OMIM:616145
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Mosaic Trisomy 9	Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Abnormal lung lobation, Endoc...	ORPHA:99776
Pseudotrisomy 13 Syndrome	Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi...	OMIM:264480
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T...	ORPHA:1908
Joubert Syndrome With Ocular Defect	Dextrocardia, Apnea, Hydrocephalus, Abnormal pattern of respiration	ORPHA:220493
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Dilation of lateral ventricles, Apnea, Hydrocephalus	OMIM:300864
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Achondroplasia	Hydrocephalus, Upper airway obstruction	OMIM:100800
Marden-Walker Syndrome	Dextrocardia, Dandy-Walker malformation, Pulmonary hypoplasia	OMIM:248700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:83473
Fried Syndrome	Hydrocephalus	ORPHA:85335
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Heterotaxy, Visceral, 5, Autosomal	Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Abdominal situs ambiguus, Righ...	OMIM:270100
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele	OMIM:182940
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Abnormal aortic valve morphology, Abnormal heart morphology, Ventriculomegaly, Atri...	ORPHA:261197
Thanatophoric Dysplasia Type 2	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Holoprosencephaly, Ventriculomegaly, ...	ORPHA:93274
Cardiac Diverticulum	Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Congenital ...	ORPHA:1686
Heterotaxy, Visceral, 8, Autosomal	Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ...	OMIM:617205
Pallister-Hall-Like Syndrome	Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus	OMIM:241800
Pettigrew Syndrome	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:304340
Aicardi-Goutieres Syndrome 4	Respiratory insufficiency, CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly	OMIM:610333
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus	OMIM:300886
Hydrocephalus With Associated Malformations	Pulmonary hypoplasia, Hydrocephalus	OMIM:236640
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Respiratory insufficiency, Ventriculomegaly, Left ventricular hypertro...	OMIM:613153
Frontal Encephalocele	Spina bifida, Hydrocephalus	ORPHA:1931
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom...	ORPHA:99125
Ellis Van Creveld Syndrome	Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ...	ORPHA:289
Thanatophoric Dysplasia	Respiratory insufficiency, Ventriculomegaly, Atrial septal defect, Hydrocephalus, Pulmonary hypop...	ORPHA:2655
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:324416
Congenitally Corrected Transposition Of The Great Arteries	Single ventricle, Double outlet left ventricle, Abnormal left ventricular outflow tract morpholog...	ORPHA:216694
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Cardiac-Urogenital Syndrome	Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Atrial septa...	OMIM:618280
Craniofacial Dyssynostosis	Hydrocephalus, Umbilical hernia	ORPHA:1516
Congenital Toxoplasmosis	Cardiomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:858
Ritscher-Schinzel Syndrome 1	Dandy-Walker malformation, Ventricular septal defect, Double outlet right ventricle, Pulmonic ste...	OMIM:220210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:602501
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Renal-Hepatic-Pancreatic Dysplasia 2	Hypertrophic cardiomyopathy, Truncus arteriosus, Pulmonary hypoplasia, Situs inversus totalis, St...	OMIM:615415
Thoracoabdominal Syndrome	Ectopia cordis, Anencephaly, Transposition of the great arteries, Hydrocephalus, Pulmonary hypopl...	OMIM:313850
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse, Hydrocephalus	ORPHA:2183
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Dandy-Walker malformation, Apneic episodes in infancy, Episodic tachypnea, Ventriculomegaly, Hydr...	ORPHA:163961
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein	ORPHA:251915
Dandy-Walker Malformation With Postaxial Polydactyly	Dandy-Walker malformation, Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus	OMIM:220220
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Atrioventricular canal defect	OMIM:618929
Greig Cephalopolysyndactyly Syndrome	Abnormal heart morphology, Hydrocephalus, Umbilical hernia, Ventriculomegaly	OMIM:175700
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Hydrocephalus	ORPHA:2635
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus	ORPHA:352682
Agnathia-Otocephaly Complex	Holoprosencephaly, Situs inversus totalis, Tracheomalacia, Respiratory distress	OMIM:202650
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:183802
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Marden-Walker Syndrome	Dextrocardia, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Abnormal anatomic...	ORPHA:2461
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly	ORPHA:272
Nephronophthisis 16	Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis	OMIM:615382
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Abnormal heart morphology, Dandy-Walker malformation, Tetralogy of Fallot	ORPHA:96092
3C Syndrome	Dandy-Walker malformation, Ventricular septal defect, Abnormal mitral valve morphology, Atriovent...	ORPHA:7
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Umbilical hernia	ORPHA:380
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus	ORPHA:1528
Melanosis, Neurocutaneous	Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus	OMIM:249400
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus	OMIM:304100
Distal Trisomy 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Hydrocephalus, Congenital Communicating, 1	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Primum atrial septal defect, Partial atrioventricular canal defect, Situs inversus totalis, Chron...	OMIM:619608
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus	ORPHA:261102
Diabetic Embryopathy	Ventricular septal defect, Transposition of the great arteries, Abnormality of the pulmonary arte...	ORPHA:1926
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hydrocephalus	OMIM:269920
Temple Syndrome	Hydrocephalus	OMIM:616222
Joubert Syndrome	Abnormal pattern of respiration, Situs inversus totalis, Apnea, Episodic tachypnea, Hydrocephalus	ORPHA:475
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly	OMIM:225790
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Johanson-Blizzard Syndrome	Dextrocardia, Abnormal cardiac septum morphology	ORPHA:2315
Mental Retardation, Buenos Aires Type	Atrial septal defect, Hydrocephalus	OMIM:249630
Meckel Syndrome, Type 4	Dandy-Walker malformation, Meningocele, Ventricular septal defect, Anencephaly, Atrial septal def...	OMIM:611134
Mend Syndrome	Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus	OMIM:300960
Lissencephaly 5	Hydrocephalus	OMIM:615191
Hec Syndrome	Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy, Respiratory insufficiency	ORPHA:2119
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis	ORPHA:2182
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Respiratory insufficiency	OMIM:187600
Coach Syndrome 2	Apneic episodes in infancy, Hydrocephalus	OMIM:619111
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:218350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Aase-Smith Syndrome I	Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus	OMIM:147800
Central Precocious Puberty	Hydrocephalus	ORPHA:759
Krabbe Disease	Hydrocephalus, Increased CSF protein	OMIM:245200
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Umbilical hernia	ORPHA:2181
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Hydrocephalus	OMIM:600991
Knobloch Syndrome	Dextrocardia, Hydrocephalus	ORPHA:1571
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:615287
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dextrocardia, Primum atrial septal defect, Ventricular septal defect, Aqueductal stenosis, Pulmon...	OMIM:619534
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Thanatophoric Dysplasia Type 1	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Ventriculomegaly, Atrial septal defec...	ORPHA:1860
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Inspiratory stridor	OMIM:207950
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Myopathy, Centronuclear, X-Linked	Respiratory failure, Neonatal respiratory distress, Hydrocephalus, Respiratory failure requiring ...	OMIM:310400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Edinburgh Malformation Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Umbilical hernia	ORPHA:171839
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:93262
Pentalogy Of Cantrell	Ventricular septal defect, Anencephaly, Atrial septal defect, Tetralogy of Fallot, Hydrocephalus,...	ORPHA:1335
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Respiratory insufficiency	ORPHA:1914
Emanuel Syndrome	Dandy-Walker malformation, Ventricular septal defect, Truncus arteriosus, Cough, Pulmonic stenosi...	ORPHA:96170
Chromosome 6Q24-Q25 Deletion Syndrome	Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Respiratory dist...	OMIM:612863
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Mental Retardation, Autosomal Dominant 35	Hydrocephalus, Ventriculomegaly	OMIM:616355
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency	OMIM:273730
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:615630
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus	ORPHA:163596
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Meckel Syndrome, Type 6	Pulmonary hypoplasia, Hydrocephalus, Anencephaly	OMIM:612284
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Arnold-Chiari Malformation Type Ii	Meningocele, Inspiratory stridor, Myelomeningocele, Pneumonia, Apnea, Ventriculomegaly, Hydroceph...	ORPHA:1136
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus,...	OMIM:612938
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis	OMIM:307000
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Crouzon Disease	Hydrocephalus, Respiratory insufficiency	ORPHA:207
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Ventriculomegaly With Defects Of The Radius And Kidney	Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly	OMIM:602200
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Hydrocephalus	OMIM:243440
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus	OMIM:614195
Mucopolysaccharidosis, Type Vii	Loud snoring, Chronic bronchitis, Obstructive sleep apnea, Cardiomyopathy, Recurrent upper respir...	OMIM:253220
Tetrasomy 9P	Dextrocardia, Dandy-Walker malformation, Pericarditis, Abnormal mitral valve morphology, Pulmonar...	ORPHA:3310
Mental Retardation, Autosomal Dominant 36	Hydrocephalus, Ventriculomegaly	OMIM:616362
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus	OMIM:613603
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Meacham Syndrome	Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lob...	ORPHA:3097
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:3376
Temple Syndrome	Hydrocephalus	ORPHA:254516
Diets-Jongmans Syndrome	Ventricular septal defect, Umbilical hernia, Heterotaxy	OMIM:618846
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Dandy-Walker malformation, Atrial septal defect, Hydrocephalus, Sleep apnea, Aortic valve stenosis	ORPHA:459061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Atrial septal defect, Hydrocephalus	OMIM:603387
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Hydrocephalus, Cardiomyopathy, Ventriculomegaly	ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Atrial septal defect, Hydrocephalus, Ventriculomegaly	OMIM:614576
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Pericardial effusion, Ventriculomegaly	OMIM:617822
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Hydrocephalus, Abnormal lung lobation, Ventriculomegaly	OMIM:300514
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:219730
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Congenital Sialidosis Type 2	Abnormal heart morphology, Respiratory tract infection, Hydrocephalus, Umbilical hernia	ORPHA:93400
Whipple Disease	Myocarditis, Pericarditis, Respiratory insufficiency, Pleuritis, Cough, Hydrocephalus	ORPHA:3452
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Chromosome 6Pter-P24 Deletion Syndrome	Dandy-Walker malformation, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, ...	OMIM:612582
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subva...	OMIM:613001
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Central apnea, Pulmonary arterial hypertension, Hydrocephalus, Sleep apnea	OMIM:616482
Dyssegmental Dysplasia, Silverman-Handmaker Type	Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus, Respiratory insufficiency	ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Tetrasomy 5P	Pulmonary arterial hypertension, Respiratory distress, Hydrocephalus, Recurrent respiratory infec...	ORPHA:3309
Isotretinoin-Like Syndrome	Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ...	ORPHA:2306
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Kyphoscoliotic Ehlers-Danlos Syndrome	Dextrocardia, Bicuspid aortic valve, Umbilical hernia	ORPHA:536545
Mucopolysaccharidosis, Type Ii	Tracheobronchomalacia, Obstructive sleep apnea, Abnormal heart valve morphology, Hydrocephalus, A...	OMIM:309900
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Hydrocephalus	OMIM:614886
Joubert Syndrome 14	Dandy-Walker malformation, Hydrocephalus	OMIM:614424
1Q44 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:238769
Axenfeld-Rieger Syndrome, Type 2	Abnormal heart morphology, Hydrocephalus, Umbilical hernia	OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Respiratory insufficiency, Holoprosencephaly, Pulmonic stenosis, Transpos...	OMIM:253800
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Tetralogy of Fallot, Hydrocephalus, Abnormal pulmonary valve mor...	ORPHA:974
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy	Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus	OMIM:220219
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, ...	OMIM:614976
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Abnormal heart morphology, Hydrocephalus	ORPHA:398124
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Distal Tetrasomy 15Q	Dandy-Walker malformation, Abnormal heart morphology, Atrial septal defect, Hydrocephalus, Pulmon...	ORPHA:314588
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus	ORPHA:1861
Lymphangioleiomyomatosis	Chylopericardium, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Hydrocephalus, Restrictive...	ORPHA:538
Microphthalmia, Syndromic 2	Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Mitral valve prolapse, Double...	OMIM:300166
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Sinusitis, Abnormal aortic valve morphology, Apnea, Cough, Abnormal ...	ORPHA:579
Tenorio Syndrome	Apnea, Hydrocephalus, Pneumonia, Ventriculomegaly	OMIM:616260
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Hydrocephalus, Stillbirth	OMIM:259720
Restrictive Dermopathy	Dextrocardia, Short umbilical cord, Small placenta, Transposition of the great arteries, Atrial s...	ORPHA:1662
Mucopolysaccharidosis, Type Vi	Cardiomyopathy, Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Hy...	OMIM:253200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Ventricular septal defect, Hydrocephalus	ORPHA:77298
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate	ORPHA:90065
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Neonatal de...	OMIM:269860
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Mitral stenosis, Hydrocephalus, Aortic valve calcification	OMIM:231005
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Hurler Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Hydrocephalus, Recurrent respiratory infections, Umbi...	OMIM:607014
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation	ORPHA:3301
Achondroplasia	Hypoxemia, Obstructive sleep apnea, Central sleep apnea, Hydrocephalus, Restrictive ventilatory d...	ORPHA:15
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Hydrocephalus	ORPHA:1834
Hydrolethalus	Arrhinencephaly, Hydrocephalus, Anencephaly	ORPHA:2189
Fg Syndrome Type 1	Mitral valve prolapse, Pulmonary arterial hypertension, Ventriculomegaly, Atrial septal defect, H...	ORPHA:93932
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Ventriculomegaly	OMIM:618476
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Hydrocephalus	OMIM:615249
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	ORPHA:1647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Poland Syndrome	Dextrocardia, Atrial septal defect, Spina bifida occulta	ORPHA:2911
Limb Body Wall Complex	Short umbilical cord, Ventricular septal defect, Ectopia cordis, Anencephaly, Myelomeningocele, A...	ORPHA:2369
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrophic cardiomyopathy, Airway obstruction, Stridor, Abnormal heart morphology, Pulmonary ar...	ORPHA:505248
Peho Syndrome	Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Lowry-Maclean Syndrome	Atrioventricular canal defect, Hydrocephalus	ORPHA:2409
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia, Atrial septal defect, Hydrocephalus, Anencephaly	OMIM:616546
Genitopalatocardiac Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:2075
Spondyloepimetaphyseal Dysplasia, Krakow Type	Asthma, Atrial septal defect, Hydrocephalus, Allergic rhinitis	OMIM:618162
Meckel Syndrome, Type 3	Dandy-Walker malformation, Hydrocephalus	OMIM:607361
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Respiratory insufficiency	ORPHA:1237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus, Ventriculomegaly	OMIM:616538
Campomelic Dysplasia	Tracheobronchomalacia, Abnormal heart morphology, Apnea, Respiratory distress, Hydrocephalus	OMIM:114290
Joubert Syndrome With Renal Defect	Apnea, Hydrocephalus, Abnormal pattern of respiration	ORPHA:220497
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Ventriculomegaly, Hydrocephalus, Asthma, Sleep apnea	ORPHA:500055
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Hydrocephalus	ORPHA:2318
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Proteus-Like Syndrome	Bronchogenic cyst, Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Plasminogen Deficiency, Type I	Dandy-Walker malformation, Recurrent upper respiratory tract infections, Hydrocephalus	OMIM:217090
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Ventriculomegaly, Hydrocephalus, Abn...	ORPHA:228308
B4Galt1-Cdg	Dandy-Walker malformation, Hydrocephalus	ORPHA:79332
Trisomy 17P	Hypoplastic left heart, Aortic valve stenosis, Hydrocephalus	ORPHA:261290
Mucopolysaccharidosis Type 3	Obstructive sleep apnea, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Recu...	ORPHA:581
Otopalatodigital Syndrome Type 2	Myelomeningocele, Abnormal heart valve morphology, Hydrocephalus, Abnormal cardiac septum morphol...	ORPHA:90652
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Communicating hydrocephalus, Ventriculomegaly	OMIM:615219
Vacterl With Hydrocephalus	Arrhinencephaly, Spina bifida, Hydrocephalus, Pulmonary hypoplasia, Aqueductal stenosis	ORPHA:3412
Hurler Syndrome	Rhinitis, Endocardial fibroelastosis, Cardiomyopathy, Abnormal heart valve morphology, Hydrocepha...	ORPHA:93473
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Umbilical hernia	ORPHA:2268
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Choroid plexus cyst, Hydrocephalus, Ventriculomegaly	OMIM:617866
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia, Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Popov-Chang syndrome	Hydrocephalus, Pulmonic stenosis	OMIM:618428
Holoprosencephaly	Dandy-Walker malformation, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Respirator...	ORPHA:2162
Griscelli Syndrome	Hydrocephalus	ORPHA:381
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein, Ventriculomegaly	OMIM:272200
Constricting Bands, Congenital	Ectopia cordis, Abnormal lung lobation	OMIM:217100
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Upper airway obstruction	OMIM:207410
Hyperphosphatasia With Mental Retardation Syndrome 1	Abnormal heart morphology, Hydrocephalus	OMIM:239300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Hydrocephalus, Neonatal breathing dysregulation, Enlarged foss...	OMIM:608091
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hydroce...	OMIM:619575
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Hydranencephaly	ORPHA:2839
Trisomy 8P	Dandy-Walker malformation, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Abnorma...	ORPHA:264450
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Holoprosencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Umb...	ORPHA:2166
Coccidioidomycosis	Pericarditis, Pneumonia, CSF lymphocytic pleiocytosis, Cough, Pleural empyema, Respiratory distre...	ORPHA:228123
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Walker-Warburg Syndrome	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	ORPHA:899
47,Xyy Syndrome	Hydrocephalus, Asthma	ORPHA:8
Trisomy 1Q	Ventricular septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:261344
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Mitral valve prolapse, Hydrocephalus, Umbilical hernia	OMIM:104350
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return	ORPHA:35107
Raine Syndrome	Neonatal death, Pulmonary hypoplasia, Hydrocephalus	OMIM:259775
Marfanoid-Progeroid-Lipodystrophy Syndrome	Asymmetric ventricles, Mitral valve prolapse, Hydrocephalus	OMIM:616914
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Cryptococcosis	Pneumonia, Cough, Respiratory distress, Hydrocephalus, Nodular pattern on pulmonary HRCT, Dyspnea...	ORPHA:1546
Capillary Malformation-Arteriovenous Malformation	Abnormal heart morphology, Epistaxis, Hydrocephalus, Chylothorax	ORPHA:137667
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Ventriculomegaly	OMIM:123790
Gaucher Disease	Respiratory insufficiency, Mitral valve calcification, Pulmonary arterial hypertension, Ventricul...	ORPHA:355
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus, Umbilical hernia	ORPHA:1555
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mitral valve prolapse, Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, ...	ORPHA:536467
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ...	OMIM:245600
Endocrine-Cerebroosteodysplasia	Holoprosencephaly, Hydrocephalus, Ventriculomegaly	OMIM:612651
Linear Skin Defects With Multiple Congenital Anomalies 1	Ventricular septal defect, Histiocytoid cardiomyopathy, Colpocephaly, Atrial septal defect, Hydro...	OMIM:309801
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea, Hydrocephalus, Ventriculomegaly	ORPHA:395
Monosomy 18Q	Pulmonary valve defects, Dysplastic pulmonary valve, Hydrocephalus, Secundum atrial septal defect...	ORPHA:1600
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy	ORPHA:157
22Q11.2 Deletion Syndrome	Meningocele, Ventricular septal defect, Arrhinencephaly, Tricuspid atresia, Truncus arteriosus, O...	ORPHA:567
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Ventriculomegaly, Tracheomalacia, Atrial septal defect, Hydrocephalus,...	ORPHA:96121
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Craniofacial Microsomia	Ventricular septal defect, Branchial anomaly, Tetralogy of Fallot, Hydrocephalus, Pulmonary hypop...	OMIM:164210
Iniencephaly	Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc...	ORPHA:63259
Apert Syndrome	Hydrocephalus, Respiratory insufficiency, Ventriculomegaly	ORPHA:87
Jacobsen Syndrome	Ventricular septal defect, Holoprosencephaly, Atrial septal defect, Hydrocephalus, Recurrent resp...	OMIM:147791
Cardiofaciocutaneous Syndrome 1	Hypertrophic cardiomyopathy, Atrial septal defect, Hydrocephalus, Pulmonic stenosis	OMIM:115150
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Mirage Syndrome	Hydrocephalus, Aspiration pneumonia	OMIM:617053
Thakker-Donnai Syndrome	Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Communicatin...	ORPHA:1780
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
H Syndrome	Recurrent pharyngitis, Chronic rhinitis, Hydrocephalus, Bronchiectasis	ORPHA:168569
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Meckel Syndrome	Dandy-Walker malformation, Lobar holoprosencephaly, Anencephaly, Situs inversus totalis, Hydrocep...	ORPHA:564
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Hydrocephalus, Stillbirth, Respiratory insufficiency	OMIM:304120
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Desmosterolosis	Total anomalous pulmonary venous return, Hydrocephalus, Ventriculomegaly	OMIM:602398
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart valve morphology, Atrial septal de...	ORPHA:1340
Shprintzen-Goldberg Craniosynostosis Syndrome	Obstructive sleep apnea, Mitral valve prolapse, Hydrocephalus, Umbilical hernia	OMIM:182212
Apert Syndrome	Ventricular septal defect, Hydrocephalus, Overriding aorta, Ventriculomegaly	OMIM:101200
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Apnea, Tracheomalacia, Atrial septal defect, Hydrocephalus, Spina bifi...	OMIM:300373
Histiocytoid Cardiomyopathy	Ventricular septal defect, Tachypnea, Cardiomegaly, Cough, Pulmonary edema, Hydrocephalus	ORPHA:137675
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Mitral valve prolapse, Abnormal aortic valve morphology, Apnea, Vent...	ORPHA:2462
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal mitral valve morphology, Abnormal heart morphology, Abnorma...	ORPHA:580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Abnormal heart morphology, Pulmonary arterial hypertension, Respiratory d...	ORPHA:79282
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Recurrent aspiration pneumonia, Respiratory insufficiency, Abnormal heart ...	OMIM:612289
Joubert Syndrome With Hepatic Defect	Apnea, Hydrocephalus, Abnormal pattern of respiration	ORPHA:1454
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Monosomy 9Q22.3	Cardiac fibroma, Hydrocephalus, Umbilical hernia, Ventriculomegaly	ORPHA:77301
Medulloblastoma	Neoplasm of the lung, Hydrocephalus	ORPHA:616
Arachnoid Cyst	Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis	ORPHA:2356
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm...	ORPHA:363958
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Tracheomalacia, Hydrocephalus	ORPHA:268249
Meckel Syndrome, Type 1	Dandy-Walker malformation, Anencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pulmon...	OMIM:249000
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus, Aqueductal stenosis	OMIM:154400
Familial Lambdoid Synostosis	Hydrocephalus	ORPHA:3267
Alexander Disease	Hydrocephalus, Respiratory insufficiency, Sleep apnea, Aqueductal stenosis	ORPHA:58
Osteootohepatoenteric Syndrome	Hydrocephalus, Asthma	OMIM:619377
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Respiratory insuff...	OMIM:218040
Opitz-Kaveggia Syndrome	Abnormal heart morphology, Hydrocephalus, Umbilical hernia	OMIM:305450
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Chronic rhinitis, Apnea, Pulmonary arterial hypertension, Hydrocephalu...	ORPHA:667
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,...	ORPHA:2072
Orofaciodigital Syndrome I	Abnormal heart morphology, Hydrocephalus, Myelomeningocele	OMIM:311200
Basal Cell Nevus Syndrome	Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma, Hydrocephalus	OMIM:109400
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus	OMIM:224400
15Q Overgrowth Syndrome	Dandy-Walker malformation, Pulmonary arterial hypertension, Hydrocephalus	ORPHA:314585
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Dural Sinus Malformation	Hydrocephalus	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:614643
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Dilation of lateral ventricles, Normal pressure hydrocephalus	ORPHA:300570
Aymé-Gripp Syndrome	Pericarditis, Pericardial effusion, Ventriculomegaly, Hydrocephalus	ORPHA:1272
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Fetal Akinesia Deformation Sequence 1	Short umbilical cord, Stillbirth, Small placenta, Hydrocephalus, Pulmonary hypoplasia	OMIM:208150
Osteopetrosis, Autosomal Recessive 7	Dilation of lateral ventricles, Recurrent pneumonia, Hydrocephalus	OMIM:612301
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Atrial septal defect, Hydrocephalus, Respiratory insufficiency	ORPHA:163979
Smith-Lemli-Opitz Syndrome	Dandy-Walker malformation, Ventricular septal defect, Abnormal lung lobation, Holoprosencephaly, ...	OMIM:270400
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hydrocephalus, Recurrent respiratory infections, Aort...	ORPHA:955
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Fanconi Anemia	Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Ventriculomegaly, Atrial septal de...	ORPHA:84
Stromme Syndrome	Hydrocephalus, Stillbirth	OMIM:243605
Dubowitz Syndrome	Asthma, Spina bifida occulta, Hydrocephalus, Respiratory insufficiency	ORPHA:235
Hydrolethalus Syndrome 1	Dandy-Walker malformation, Complete atrioventricular canal defect, Ventricular septal defect, Arr...	OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly	OMIM:613150
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly	ORPHA:25
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Semilobar Holoprosencephaly	Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy...	ORPHA:93924
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Tricuspid valve prola...	ORPHA:2556
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Hydrocephalus, Aqueductal stenosis	OMIM:619512
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Osteogenesis Imperfecta	Abnormal endocardium morphology, Mitral valve prolapse, Neonatal respiratory distress, Noncommuni...	ORPHA:666
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:250989
Hajdu-Cheney Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Umbilical hernia	OMIM:102500
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly	OMIM:610828
Sturge-Weber Syndrome	Hydrocephalus, Pulmonary embolism	ORPHA:3205
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Mend Syndrome	Dandy-Walker malformation, Abnormal heart morphology, Aortic valve stenosis, Hydrocephalus	ORPHA:401973
Mohr Syndrome	Hydrocephalus	OMIM:252100
Posterior Meningocele	Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Pulmonary artery aneurysm, Mitral valve prolapse, Bicuspid pulmonary valve...	OMIM:609192
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Umbilical hernia	OMIM:136140
Mosaic Variegated Aneuploidy Syndrome 1	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:236670
Facial Dysmorphism With Multiple Malformations	Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus	OMIM:227255
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Hydrocephalus	OMIM:227646
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse	ORPHA:261337
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Kabuki Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:2322
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Tetraamelia Syndrome 1	Pulmonary hypoplasia, Hydrocephalus, Peripheral pulmonary vessel aplasia	OMIM:273395
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Pulmonary artery aneurysm, Mitral valve prolapse, Bicuspid pulmonary valve...	OMIM:610168
Craniopharyngioma	Hydrocephalus, Sleep apnea	ORPHA:54595
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Sinusitis, Ventricular septal defect, Mitral valve prolapse, Abnorma...	ORPHA:363700
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Noncommunicating hydrocephalus, Subependymal nodules, Pulmonary lymphangiomy...	ORPHA:805
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hydrocephalus, Ventriculomegaly	OMIM:617011
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Stillbirth	ORPHA:95699
Cerebrooculonasal Syndrome	Hydrocephalus	OMIM:605627
Peters Plus Syndrome	Bicuspid pulmonary valve, Pulmonic stenosis, Ventriculomegaly, Abnormal pulmonary vein morphology...	ORPHA:709
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Umbilical hernia, Pneumonia	ORPHA:309282
Fraser Syndrome 1	Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus, Myelomeningocele	OMIM:219000
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis	OMIM:162200
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo...	OMIM:607872
Yunis-Varon Syndrome	Ventricular septal defect, Arrhinencephaly, Pulmonary arterial hypertension, Cardiomegaly, Cardio...	ORPHA:3472
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Neonatal respiratory distress, Abnormal lung lobation, Right ventricul...	OMIM:312870
Meningioma	Abnormality on pulmonary function testing, Progressive pulmonary function impairment, Hydrocephalus	ORPHA:2495
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Ventricular septal defect, Decreased CSF 5-methyltetrahydrofolate concentr...	OMIM:619475
Baller-Gerold Syndrome	Abnormal heart morphology, Spina bifida occulta, Hydrocephalus	OMIM:218600
Pseudoaminopterin Syndrome	Patent foramen ovale, Hydrocephalus	ORPHA:221120
Floating-Harbor Syndrome	Atrial septal defect, Tetralogy of Fallot, Mesocardia	ORPHA:2044
Hypoplasminogenemia	Dandy-Walker malformation, Hydrocephalus	ORPHA:722
Wiedemann-Rautenstrauch Syndrome	Dandy-Walker malformation, Recurrent respiratory infections, Hydrocephalus	OMIM:264090
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Holoprosencephaly 9	Holoprosencephaly, Hydrocephalus	OMIM:610829
Neurofibromatosis Type 2	Hydrocephalus	ORPHA:637
Microphthalmia With Limb Anomalies	Arrhinencephaly, Hydrocephalus	ORPHA:1106
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Atrial septal defect, Hydrocephalus, Ventriculomegaly	OMIM:194190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Focal Dermal Hypoplasia	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Umbilical hernia	OMIM:305600
Peters-Plus Syndrome	Ventricular septal defect, Ventriculomegaly, Pulmonic stenosis, Atrial septal defect, Hydrocephal...	OMIM:261540
Cockayne Syndrome A	Normal pressure hydrocephalus	OMIM:216400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Exstrophy-Epispadias Complex	Abnormal heart morphology, Spina bifida, Hydrocephalus	ORPHA:322
Wiedemann-Rautenstrauch Syndrome	Dysplastic pulmonary valve, Congenital malformation of the left heart, Hydrocephalus, Pulmonic st...	ORPHA:3455
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Atrial septal defect, Hydrocephalus, Stillbirth	OMIM:268300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Noncommunicating hydrocephalus, Patent foramen ovale	OMIM:619325
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele	ORPHA:573278
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

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 Odad4

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 Odad4.

No publications found that use IMPC mice or data for Odad4.

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MGI Allele	Allele Type	Produced
Odad4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Odad4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele

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