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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 (552 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		Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t...	ORPHA:244
Ciliary Dyskinesia, Primary, 35		Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	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, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,...	OMIM:618254
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ...	OMIM:615482
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot...	OMIM:615444
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W...	OMIM:613807
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou...	OMIM:619607
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia	OMIM:606217
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:615451
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:608644
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, To...	OMIM:614779
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r...	OMIM:618300
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t...	ORPHA:244
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615504
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve...	OMIM:208530
Dextrocardia	Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal lung lobation, Abnormal heart morph...	ORPHA:1666
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615505
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia...	OMIM:314390
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Respiratory insufficiency	ORPHA:1759
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil...	OMIM:614874
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615500
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal...	OMIM:617205
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar...	OMIM:106700
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:300991
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at...	ORPHA:2257
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Coronary sinus enlargement, Partial atri...	ORPHA:1330
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal...	OMIM:612444
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom...	OMIM:605376
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ...	OMIM:613193
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk...	OMIM:614017
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
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced for...	OMIM:613686
Scimitar Syndrome	Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal...	ORPHA:185
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren...	OMIM:608647
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti...	OMIM:614935
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Acalvaria	Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida	ORPHA:945
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro...	OMIM:617092
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric ...	OMIM:620197
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W...	OMIM:613808
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arterie...	OMIM:306955
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Pulmonary hypoplasia, Spina bifida o...	ORPHA:2437
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Heterotaxy, Visceral, 12, Autosomal	Atrial septal defect, Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus tot...	OMIM:619702
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira...	OMIM:276950
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia	ORPHA:2863
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Double Outlet Right Ventricle	Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heterotaxy, Hypoplastic left...	ORPHA:3426
1Q21.1 Microduplication Syndrome	Hydrocephalus, Tetralogy of Fallot	ORPHA:250994
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immo...	OMIM:244400
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial ano...	OMIM:608978
Renpenning Syndrome	Heterotaxy	ORPHA:3242
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Poland Syndrome	Dextrocardia	OMIM:173800
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Joubert Syndrome With Ocular Defect	Encephalocele, Apnea, Dextrocardia, Hydrocephalus, Abnormal pattern of respiration	ORPHA:220493
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H...	OMIM:264480
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Atrial septal defect, Ventricular septal defect,...	OMIM:270100
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Holopro...	ORPHA:93274
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia	OMIM:613095
Mosaic Trisomy 9	Ventriculomegaly, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve mor...	ORPHA:99776
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Fried Syndrome	Hydrocephalus	ORPHA:85335
Marden-Walker Syndrome	Dextrocardia, Pulmonary hypoplasia, Dandy-Walker malformation	OMIM:248700
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, ...	ORPHA:261197
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, Respiratory insufficiency, CSF lymphocytic pleiocytosis	OMIM:610333
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Tracheomal...	OMIM:618280
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Cardiomegaly	ORPHA:858
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Transposition of the great arteries, Pulmonary hypoplasia, Ectopia co...	OMIM:313850
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Thanatophoric Dysplasia	Hydrocephalus, Respiratory insufficiency, Pulmonary hypoplasia, Atrial septal defect, Ventriculom...	ORPHA:2655
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-W...	OMIM:613153
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Hydrocephalus	ORPHA:1516
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ...	OMIM:220210
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia	OMIM:618929
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology	OMIM:175700
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal...	ORPHA:163961
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Agnathia-Otocephaly Complex	Respiratory distress, Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia...	OMIM:202650
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Joubert Syndrome	Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormal pattern...	ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Hydrocephalus	OMIM:613155
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs, Hydrocephalus	ORPHA:2635
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic...	ORPHA:2461
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:380
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia	OMIM:241800
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
3C Syndrome	Recurrent respiratory infections, Ventriculomegaly, Ventricular septal defect, Abnormal mitral va...	ORPHA:7
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
8P Inverted Duplication/Deletion Syndrome	Tetralogy of Fallot, Dextrocardia, Dandy-Walker malformation, Abnormal heart morphology	ORPHA:96092
Infantile Sialic Acid Storage Disease	Hydrocephalus, Cardiomegaly	OMIM:269920
Diabetic Embryopathy	Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Transposition o...	ORPHA:1926
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Dextrocardia	ORPHA:2315
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth, Aortic v...	OMIM:615415
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Respiratory insufficiency	ORPHA:1914
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim...	OMIM:619608
Neurooculorenal Syndrome	Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with...	OMIM:620305
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia	ORPHA:1571
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor	OMIM:207950
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Respiratory insufficiency, Endocardial fibroelastosis	ORPHA:2119
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep...	ORPHA:1335
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Dextrocardia	OMIM:277380
Coach Syndrome 2	Hydrocephalus, Apneic episodes in infancy	OMIM:619111
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:2181
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Thanatophoric Dysplasia Type 1	Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Atrial septal defect, ...	ORPHA:1860
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect...	OMIM:609029
Aase-Smith Syndrome I	Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia	OMIM:614294
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:218350
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:171839
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Edinburgh Malformation Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:93262
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly	ORPHA:370959
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:615630
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Hb Bart'S Hydrops Fetalis	Pericarditis, Hydrocephalus	ORPHA:163596
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect...	ORPHA:96170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:603387
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa...	OMIM:619534
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ven...	OMIM:612863
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Pulmonary hyp...	ORPHA:1865
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Hydrocephalus, Atrial septal defect, Umbilical hernia, Tetralogy of Fa...	OMIM:612582
Tetrasomy 9P	Pericarditis, Dextrocardia, Hydrocephalus, Pulmonary arterial hypertension, Abnormal cardiac sept...	ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie...	OMIM:253800
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Crouzon Syndrome	Hydrocephalus, Respiratory insufficiency	ORPHA:207
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Dandy-Wa...	OMIM:612938
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Hydrocephalus,...	OMIM:310400
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Triploidy	Abnormal cardiac septum morphology, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormal lung lobation, Anomalous pulmonary ve...	ORPHA:3097
Temple Syndrome	Hydrocephalus	ORPHA:254516
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia	OMIM:612284
Bresek Syndrome	Neonatal death, Hydrocephalus	ORPHA:85284
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walker malformation	OMIM:617822
Diets-Jongmans Syndrome	Heterotaxy, Umbilical hernia, Ventricular septal defect	OMIM:618846
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Abnormal lung lobation, Hydrocephalus, Ventriculomegaly	OMIM:300514
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Asthma, Recurrent pneumonia, Hydrocephalus, Umbilical hernia, Tr...	OMIM:309900
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:614576
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Constricting Bands, Congenital	Encephalocele, Ectopia cordis, Abnormal lung lobation	OMIM:217100
Congenital Sialidosis Type 2	Respiratory tract infection, Umbilical hernia, Hydrocephalus, Abnormal heart morphology	ORPHA:93400
Tetrasomy 15Q26	Atrial septal defect, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Adams-Oliver Syndrome	Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary artery atresia, Pulm...	ORPHA:974
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard...	OMIM:261740
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Whipple Disease	Pericarditis, Myocarditis, Hydrocephalus, Respiratory insufficiency, Cough, Pleuritis	ORPHA:3452
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia, Pulm...	ORPHA:3309
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Distal Triplication 15Q	Hydrocephalus, Abnormal heart morphology, Pulmonary hypoplasia, Atrial septal defect, Dandy-Walke...	ORPHA:314588
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Axenfeld-Rieger Syndrome, Type 2	Umbilical hernia, Hydrocephalus, Abnormal heart morphology	OMIM:601499
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydrocephalus, Subvalvular aorti...	OMIM:613001
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Pu...	OMIM:269860
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Temple Syndrome	Hydrocephalus	OMIM:616222
1Q44 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:238769
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Tenorio Syndrome	Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly	OMIM:616260
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ...	ORPHA:2306
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo...	OMIM:217090
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Hydrocephalus, Recurrent upper respiratory tract infections, Car...	OMIM:253220
Neonatal Lupus Erythematosus	Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology	ORPHA:398124
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Apnea, Abnormal heart valve morphology, Hydrocephalu...	ORPHA:579
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Ventricular septal defect, Holoprosencephaly	ORPHA:77298
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar...	OMIM:616482
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu...	OMIM:300166
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Hydrocephalus, Chylopericar...	ORPHA:538
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
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
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Hydrocephalus	OMIM:614886
Restrictive Dermopathy	Dextrocardia, Large placenta, Short umbilical cord, Pulmonary hypoplasia, Small placenta, Atrial ...	ORPHA:1662
Fg Syndrome Type 1	Hydrocephalus, Mitral valve prolapse, Pulmonary arterial hypertension, Atrial septal defect, Umbi...	ORPHA:93932
Kyphoscoliotic Ehlers-Danlos Syndrome	Umbilical hernia, Bicuspid aortic valve, Dextrocardia	ORPHA:536545
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration	ORPHA:220497
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation	ORPHA:3301
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Tachypnea, Apnea	ORPHA:2318
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, ...	OMIM:614976
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Atrial septal defect, Occipital meningocele, Ve...	OMIM:616546
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Trisomy 1Q	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	ORPHA:261344
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus	ORPHA:261290
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Hydrocephalus	ORPHA:1834
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Catel-Manzke Syndrome	Umbilical hernia, Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Poland Syndrome	Encephalocele, Atrial septal defect, Spina bifida occulta, Dextrocardia	ORPHA:2911
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Hydrocephalus	OMIM:615249
Arachnoiditis	Hydrocephalus	ORPHA:137817
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Respiratory insufficiency	ORPHA:1237
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Abnormal lung lobation, Abnormal cardiac septum morphology, Holopro...	ORPHA:2166
Lowry-Maclean Syndrome	Atrioventricular canal defect, Hydrocephalus	ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Apnea, Ventriculomegaly	OMIM:614969
Proteus-Like Syndrome	Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus	ORPHA:2969
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Abnormal heart morphology,...	ORPHA:505248
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Peho Syndrome	Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Fraser Syndrome 3	Hydrocephalus, Stillbirth, Abnormal lung lobation	OMIM:617667
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Episodic tachypnea, Hydrocephalus...	OMIM:608091
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium m...	ORPHA:228308
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac...	ORPHA:90652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus, Ventriculomegaly	OMIM:616538
Hurler Syndrome	Recurrent respiratory infections, Hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis, Umbi...	OMIM:607014
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Hydrocephalus	OMIM:259710
Achondroplasia	Hypoxemia, Restrictive ventilatory defect, Hydrocephalus	ORPHA:15
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, Umbilical hernia	OMIM:130720
Pfeiffer Syndrome Type 2	Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia	ORPHA:93259
Hurler Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Hydrocephalus, Cardiomyopathy,...	ORPHA:93473
Genitopalatocardiac Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:2075
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Achondroplasia	Respiratory distress, Hydrocephalus, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydrocephalus, Res...	ORPHA:2162
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Umbilical hernia	ORPHA:2268
Congenital Myopathy 22A, Classic	Neonatal death, Normal pressure hydrocephalus, Respiratory insufficiency	OMIM:620351
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Asthma, Dilated third ventricle, Hydrocephalus, Ventriculomegaly	ORPHA:500055
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Mucopolysaccharidosis, Type Vi	Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, Cervical myelopathy, Rest...	OMIM:253200
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Abnormal myocardiu...	ORPHA:581
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus, Upper airway obstruction	OMIM:207410
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Hydrocephalus	OMIM:619951
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal heart morphology	OMIM:239300
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, Pulmonary valve def...	ORPHA:1600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie...	ORPHA:536467
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Pulmonary hypoplasia, Spina bifida	ORPHA:3412
Marshall-Smith Syndrome	Apnea, Ventricular septal defect, Dysplastic aortic valve, Hydrocephalus, Recurrent upper respira...	OMIM:602535
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
47,Xyy Syndrome	Asthma, Hydrocephalus	ORPHA:8
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Umbilical hernia, Hydrocephalus	ORPHA:1555
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Lateral ventricle dil...	OMIM:619575
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return	ORPHA:35107
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, ...	OMIM:245600
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pl...	ORPHA:228123
Rabin-Pappas Syndrome	Tracheomalacia, Hypoventilation, Hydrocephalus	OMIM:620155
Trisomy 8P	Dandy-Walker malformation, Abnormal atrioventricular connection, Hydrocephalus, Recurrent upper r...	ORPHA:264450
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse	OMIM:616914
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus, Mitral valve prolapse	OMIM:104350
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydrocephalus, Cough...	ORPHA:1546
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Hydrocephalus, Chylothorax, Abnormal heart morphology	ORPHA:137667
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-Walker malformation	OMIM:257300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Hydrocephalus, Asthma, Allergic rhinitis	OMIM:618162
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration	ORPHA:1454
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth, Hydrocephalus, Ventriculomegaly	OMIM:259720
Meckel Syndrome	Encephalocele, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy...	ORPHA:564
Mirage Syndrome	Hydrocephalus, Aspiration pneumonia	OMIM:617053
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Neonatal respiratory distress, Hydrocephalus	ORPHA:157
Gaucher Disease	Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Abn...	ORPHA:355
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertro...	ORPHA:1340
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Apnea, Ventriculomegaly	ORPHA:395
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Apert Syndrome	Ventriculomegaly, Hydrocephalus, Respiratory insufficiency	ORPHA:87
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	OMIM:115150
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Atelectasis, Asthma...	ORPHA:567
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Desmosterolosis	Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly	OMIM:602398
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cough, Pulmonary edema	ORPHA:137675
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, At...	OMIM:147791
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Apnea, Mitral valve prolapse, Abnormal aortic valve morphology, Umbi...	ORPHA:2462
H Syndrome	Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Chronic rhinitis	ORPHA:168569
Raine Syndrome	Neonatal death, Hydrocephalus, Pulmonary hypoplasia	OMIM:259775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the...	ORPHA:1780
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
7Q11.23 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Hydrocephalus, Tracheomalacia, Aortic valve sten...	ORPHA:96121
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Ventriculomegaly	OMIM:123790
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H...	OMIM:309801
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Shprintzen-Goldberg Craniosynostosis Syndrome	Umbilical hernia, Hydrocephalus, Mitral valve prolapse	OMIM:182212
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Atrial septal defect, Bicuspid aortic valve, Ventricular septal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Atrial septal defect, Bicuspid aortic valve, Ventricular septal...	ORPHA:363958
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart m...	ORPHA:79282
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Tracheobronchomalacia, ...	OMIM:114290
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Ventricular septal defect	ORPHA:268249
Monosomy 9Q22.3	Umbilical hernia, Hydrocephalus, Cardiac fibroma, Ventriculomegaly	ORPHA:77301
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Ventricular septal defect, Apnea, Hydrocephalus, Tracheomalacia, Spina bifi...	OMIM:300373
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Pneumothorax, Respiratory insufficien...	OMIM:612289
Opitz-Kaveggia Syndrome	Umbilical hernia, Hydrocephalus, Abnormal heart morphology	OMIM:305450
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Hydrocephalu...	OMIM:249000
Medulloblastoma	Neoplasm of the lung, Hydrocephalus	ORPHA:616
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Pulmonary artery st...	ORPHA:667
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency	ORPHA:58
Costello Syndrome	Atrial septal defect, Ventricular septal defect, Hydrocephalus, Pneumothorax, Respiratory insuffi...	OMIM:218040
Apert Syndrome	Hydrocephalus, Overriding aorta, Ventricular septal defect, Ventriculomegaly	OMIM:101200
Osteootohepatoenteric Syndrome	Asthma, Hydrocephalus	OMIM:619377
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Umbilical hernia, Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology	ORPHA:250989
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida	OMIM:109400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal mitral valve morphology, Abnormal heart valve morphology, A...	ORPHA:580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce...	ORPHA:2072
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation	OMIM:612301
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Dubowitz Syndrome	Asthma, Spina bifida occulta, Hydrocephalus, Respiratory insufficiency	ORPHA:235
Stromme Syndrome	Hydrocephalus, Stillbirth	OMIM:243605
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Hydrocephalus, Ventriculomegaly	ORPHA:1272
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hydrocephalus, Umbi...	ORPHA:955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Respiratory insufficiency	ORPHA:163979
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Hydrocephalus, Aqueductal stenosis	OMIM:619512
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Fanconi Anemia	Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology...	ORPHA:84
Semilobar Holoprosencephaly	Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Hydrocephalus, Abnormal heart morphology, Neural tube defect, Aspiration pneumonia...	ORPHA:93924
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Hydrocephalus, Abnormal lung lobation, Colpocephaly, Pulmonary hypopla...	OMIM:270400
Sturge-Weber Syndrome	Hydrocephalus, Pulmonary embolism	ORPHA:3205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Resp...	ORPHA:2556
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy	OMIM:616084
Osteogenesis Imperfecta	Abnormal endocardium morphology, Neonatal respiratory distress, Hydrocephalus, Noncommunicating h...	ORPHA:666
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology	ORPHA:401973
Mohr Syndrome	Hydrocephalus	OMIM:252100
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Stillbirth, Short umbilical cord, Pulmonary hypoplasia, Small placenta	OMIM:208150
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Abnormal heart morphology	OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Respiratory insuffi...	OMIM:210710
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Hydrolethalus Syndrome 1	Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Abnormal lung lob...	OMIM:236680
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valv...	OMIM:609192
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Abnormal heart morphology	OMIM:227646
Kabuki Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:2322
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Hajdu-Cheney Syndrome	Umbilical hernia, Hydrocephalus, Ventricular septal defect	OMIM:102500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol...	ORPHA:363700
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Fraser Syndrome 1	Encephalocele, Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Pulmonary hypoplasia	OMIM:219000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Stillbirth	ORPHA:95699
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdo...	ORPHA:805
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Di...	OMIM:607872
Loeys-Dietz Syndrome 2	Atrial septal defect, Bicuspid aortic valve, Spontaneous pneumothorax, Hydrocephalus, Bicuspid pu...	OMIM:610168
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia	OMIM:273395
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Decreased CSF 5-methyltetrahydro...	OMIM:619475
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Umbilical hernia, Pneumonia	ORPHA:309282
Mend Syndrome	Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Peters Plus Syndrome	Hydrocephalus, Bicuspid pulmonary valve, Spina bifida occulta, Abnormal pulmonary vein morphology...	ORPHA:709
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:457284
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Atrial septal defect, Pul...	ORPHA:3472
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Meningioma	Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testing	ORPHA:2495
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Ventricular septal defect, Hydrocephalus, Abnormal lung lobation, ...	OMIM:312870
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Floating-Harbor Syndrome	Atrial septal defect, Umbilical hernia, Mesocardia	OMIM:136140
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Pseudoaminopterin Syndrome	Hydrocephalus, Patent foramen ovale	ORPHA:221120
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial s...	OMIM:304120
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect, Hydrocephalus, Dandy-...	OMIM:264090
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Kabuki Syndrome 1	Ventricular septal defect, Hydrocephalus, Lateral ventricle dilatation, Atrial septal defect, Rec...	OMIM:147920
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Tetralogy of Fallot	ORPHA:2044
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Epistaxis, Asthma, Mild fetal ventriculomegaly, Patent foramen ovale	OMIM:619841
Wolf-Hirschhorn Syndrome	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:194190
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta, Abnormal heart morphology	OMIM:218600
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Townes-Brocks Syndrome 1	Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern...	OMIM:107480
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:305600
Peters-Plus Syndrome	Ventricular septal defect, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Umbilical hern...	OMIM:261540
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Abnormal heart morphology	ORPHA:322
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pulmonic st...	ORPHA:3455
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus	OMIM:619325
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Stillbirth, Atrial septal defect	OMIM:268300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Branchial anomaly, Pulmonary h...	OMIM:164210
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.

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
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	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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