Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Pigu by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis | Hydrocephalus | OMIM:618590 |
The table below shows human diseases predicted to be associated to Pigu by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Chromosome 8Q12.1-Q21.2 Deletion Syndrome | Hydrocephalus | OMIM:600257 | |
Hydrocephalus With Cerebellar Agenesis | Hydrocephalus | OMIM:307010 | |
Hydrocephalus, Congenital, 1 | Hydrocephalus, Ventriculomegaly | OMIM:236600 | |
Megalencephaly, Autosomal Dominant | Hydrocephalus | OMIM:155350 | |
Craniofacial Conodysplasia | Hydrocephalus | ORPHA:85168 | |
Hydrocephalus, Autosomal Dominant | Dandy-Walker malformation, Hydrocephalus | OMIM:123155 | |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 | Hydrocephalus, Ventriculomegaly | OMIM:615938 | |
Alexander Disease | Hydrocephalus, Increased CSF protein | OMIM:203450 | |
Hydrocephalus, Congenital Communicating, 1 | Communicating hydrocephalus, Ventriculomegaly | OMIM:618667 | |
Beemer Lethal Malformation Syndrome | Hydrocephalus | OMIM:209970 | |
Papilloma Of Choroid Plexus | Choroid plexus papilloma, Hydrocephalus | ORPHA:2807 | |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus | Normal pressure hydrocephalus, Ventriculomegaly | OMIM:611808 | |
Fanconi Anemia, Complementation Group R | Hydrocephalus | OMIM:617244 | |
Hydrocephalus, Congenital, 3, With Brain Anomalies | Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus | OMIM:617967 | |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 | Hydrocephalus, Ventriculomegaly | OMIM:615937 | |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension | Hydrocephalus | OMIM:166990 | |
Pineocytoma | Hydrocephalus, Increased CSF protein | ORPHA:251912 | |
Dandy-Walker Syndrome | Dilated fourth ventricle, Hydrocephalus | OMIM:220200 | |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome | Dandy-Walker malformation, Hydrocephalus | ORPHA:1538 | |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome | Hydrocephalus | ORPHA:2703 | |
Edinburgh Malformation Syndrome | Hydrocephalus | OMIM:129850 | |
Biemond Syndrome Ii | Hydrocephalus | OMIM:210350 | |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis | Hydrocephalus | OMIM:236660 | |
Band Heterotopia | Hydrocephalus, Ventriculomegaly | OMIM:600348 | |
Kleeblattschaedel | Hydrocephalus | OMIM:148800 | |
Chudley-Mccullough Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:604213 | |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures | Hydrocephalus, Ventriculomegaly | OMIM:618709 | |
Papilloma Of Choroid Plexus | Choroid plexus papilloma, Hydrocephalus | OMIM:260500 | |
Atypical Teratoid Rhabdoid Tumor | Hydrocephalus | ORPHA:99966 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Hydrocephalus, Ventriculomegaly | OMIM:614830 | |
Omphalocele-Cleft Palate Syndrome, Lethal | Hydrocephalus | OMIM:258320 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:613154 | |
Holoprosencephaly 5 | Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... | OMIM:609637 | |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome | Hydrocephalus | ORPHA:1008 | |
Hydrolethalus Syndrome 2 | Hydrocephalus, Anencephaly, Ventriculomegaly | OMIM:614120 | |
Neural Tube Defects, Susceptibility To | Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele | OMIM:182940 | |
Radial Aplasia, X-Linked | Hydrocephalus | OMIM:312190 | |
Developmental And Epileptic Encephalopathy 36 | Hydrocephalus | OMIM:300884 | |
Acalvaria | Holoprosencephaly, Spina bifida, Hydrocephalus | ORPHA:945 | |
Masa Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:303350 | |
Developmental And Epileptic Encephalopathy 49 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:617281 | |
Methylmalonic Acidemia With Homocystinuria | Hydrocephalus | ORPHA:26 | |
Hydrocephalus, Normal-Pressure, 1 | Normal pressure hydrocephalus | OMIM:236690 | |
Frontal Encephalocele | Spina bifida, Hydrocephalus | ORPHA:1931 | |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts | Communicating hydrocephalus | OMIM:600559 | |
Melanosis, Neurocutaneous | Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus | OMIM:249400 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:324416 | |
Papillary Tumor Of The Pineal Region | Hydrocephalus, Increased CSF protein | ORPHA:251915 | |
Congenital Hydrocephalus | Colpocephaly, Hydrocephalus, Ventriculomegaly | ORPHA:2185 | |
Fried Syndrome | Hydrocephalus | ORPHA:85335 | |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects | Spina bifida occulta, Hydrocephalus, Myelomeningocele | OMIM:183802 | |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked | Dilation of lateral ventricles, Hydrocephalus | OMIM:300864 | |
Corpus Callosum, Partial Agenesis Of, X-Linked | Hydrocephalus | OMIM:304100 | |
Pettigrew Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:304340 | |
Gómez-López-Hernández Syndrome | Hydrocephalus | ORPHA:1532 | |
1Q21.1 Microduplication Syndrome | Hydrocephalus | ORPHA:250994 | |
Biemond Syndrome Type 2 | Hydrocephalus | ORPHA:141333 | |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement | Hydrocephalus | ORPHA:352682 | |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius | Holoprosencephaly, Hydrocephalus, Aqueductal stenosis | ORPHA:2182 | |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome | Hydrocephalus | OMIM:614195 | |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 | Hydrocephalus | OMIM:300886 | |
Crouzon Syndrome With Acanthosis Nigricans | Hydrocephalus | OMIM:612247 | |
Diencephalic Syndrome | Hydrocephalus | ORPHA:1672 | |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities | Hydrocephalus | OMIM:619470 | |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius | Hydrocephalus, Aqueductal stenosis | OMIM:307000 | |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome | Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly | OMIM:225790 | |
Distal 7Q11.23 Microduplication Syndrome | Hydrocephalus | ORPHA:261102 | |
Aicardi-Goutieres Syndrome 4 | CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly | OMIM:610333 | |
Craniotelencephalic Dysplasia | Arrhinencephaly, Hydrocephalus | ORPHA:1528 | |
Achondroplasia | Hydrocephalus | OMIM:100800 | |
L1 Syndrome | Hydrocephalus, Aqueductal stenosis | ORPHA:275543 | |
Pontocerebellar Hypoplasia, Type 15 | Hydrocephalus | OMIM:619302 | |
Hydrocephalus With Associated Malformations | Hydrocephalus | OMIM:236640 | |
Central Neurocytoma | Hydrocephalus, Abnormal lateral ventricle morphology | ORPHA:73256 | |
Ventriculomegaly With Defects Of The Radius And Kidney | Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly | OMIM:602200 | |
Isotretinoin Embryopathy-Like Syndrome | Hydrocephalus | OMIM:243440 | |
Craniofacial Dyssynostosis | Hydrocephalus | ORPHA:1516 | |
Dandy-Walker Malformation With Postaxial Polydactyly | Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus | OMIM:220220 | |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome | Hydrocephalus | ORPHA:397951 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:613153 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:602501 | |
Nephronophthisis 18 | Hydrocephalus | OMIM:615862 | |
Congenital Toxoplasmosis | Hydrocephalus, Ventriculomegaly | ORPHA:858 | |
Central Precocious Puberty | Hydrocephalus | ORPHA:759 | |
Hydrocephalus-Obesity-Hypogonadism Syndrome | Hydrocephalus | ORPHA:2183 | |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome | Hydrocephalus | ORPHA:83473 | |
6P22 Microdeletion Syndrome | Hydrocephalus | ORPHA:251046 | |
Lissencephaly 5 | Hydrocephalus | OMIM:615191 | |
Mental Retardation, Autosomal Dominant 35 | Hydrocephalus, Ventriculomegaly | OMIM:616355 | |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy | Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus | OMIM:220219 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Hydrocephalus | OMIM:601794 | |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | ORPHA:163961 | |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia | Hydrocephalus | OMIM:600991 | |
Temple Syndrome | Hydrocephalus | OMIM:616222 | |
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 | |
Krabbe Disease | Hydrocephalus, Increased CSF protein | OMIM:245200 | |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies | Hydrocephalus, Ventriculomegaly | OMIM:618577 | |
Vacterl Association With Hydrocephalus | Hydrocephalus, Aqueductal stenosis | OMIM:276950 | |
Congenital Muscular Dystrophy, Fukuyama Type | Hydrocephalus, Ventriculomegaly | ORPHA:272 | |
Greig Cephalopolysyndactyly Syndrome | Hydrocephalus | ORPHA:380 | |
Aase-Smith Syndrome I | Dandy-Walker malformation, Hydrocephalus | OMIM:147800 | |
Nasu-Hakola Disease | Hydrocephalus, Ventriculomegaly | ORPHA:2770 | |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome | Hydrocephalus | OMIM:613603 | |
Thoracic Dysplasia-Hydrocephalus Syndrome | Communicating hydrocephalus | OMIM:273730 | |
Oxoglutaric Aciduria | Hydrocephalus | ORPHA:31 | |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome | Hydrocephalus | ORPHA:2181 | |
Thanatophoric Dysplasia Type 2 | Holoprosencephaly, Hydrocephalus, Ventriculomegaly | ORPHA:93274 | |
Optic Pathway Glioma | Hydrocephalus | ORPHA:2086 | |
Intellectual Developmental Disorder, X-Linked 30 | Hydrocephalus | OMIM:300558 | |
Focal Facial Dermal Dysplasia Type Iv | Hydrocephalus | ORPHA:398189 | |
Mend Syndrome | Dandy-Walker malformation, Hydrocephalus | OMIM:300960 | |
Coach Syndrome 2 | Hydrocephalus | OMIM:619111 | |
Chromosome 17P13.1 Deletion Syndrome | Hydrocephalus | OMIM:613776 | |
Greig Cephalopolysyndactyly Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:175700 | |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 | Hydrocephalus | ORPHA:99947 | |
Metatropic Dysplasia | Hydrocephalus | ORPHA:2635 | |
Mental Retardation, Autosomal Dominant 36 | Hydrocephalus, Ventriculomegaly | OMIM:616362 | |
Cole-Carpenter Syndrome 1 | Communicating hydrocephalus, Hydrocephalus | OMIM:112240 | |
Arachnoiditis | Hydrocephalus | ORPHA:137817 | |
Infantile Sialic Acid Storage Disease | Hydrocephalus | OMIM:269920 | |
Pallister-Hall-Like Syndrome | Hydrocephalus | OMIM:241800 | |
Craniofacial Dyssynostosis With Short Stature | Hydrocephalus, Ventriculomegaly | OMIM:218350 | |
Mental Retardation, Buenos Aires Type | Hydrocephalus | OMIM:249630 | |
Ventriculomegaly With Cystic Kidney Disease | Hydrocephalus, Ventriculomegaly | OMIM:219730 | |
Amelocerebrohypohidrotic Syndrome | Hydrocephalus | ORPHA:1946 | |
Hb Bart'S Hydrops Fetalis | Hydrocephalus | ORPHA:163596 | |
Hemangioblastoma | Hydrocephalus | ORPHA:252054 | |
Thanatophoric Dysplasia | Hydrocephalus, Ventriculomegaly | ORPHA:2655 | |
Chiari Malformation Type Ii | Spina bifida, Hydrocephalus, Myelomeningocele | OMIM:207950 | |
Meckel Syndrome, Type 3 | Dandy-Walker malformation, Hydrocephalus | OMIM:607361 | |
Meckel Syndrome, Type 4 | Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly | OMIM:611134 | |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development | Hydrocephalus | OMIM:617542 | |
Cutis Laxa, Autosomal Recessive, Type Iib | Hydrocephalus | OMIM:612940 | |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities | Hydrocephalus, Ventriculomegaly | OMIM:109120 | |
Temple Syndrome | Hydrocephalus | ORPHA:254516 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Hydrocephalus | OMIM:615181 | |
Noonan Syndrome-Like Disorder With Loose Anagen Hair | Hydrocephalus | ORPHA:2701 | |
Aminopterin/Methotrexate Embryofetopathy | Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism | ORPHA:1908 | |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome | Hydrocephalus | ORPHA:171839 | |
Crouzon Syndrome-Acanthosis Nigricans Syndrome | Hydrocephalus | ORPHA:93262 | |
Edinburgh Malformation Syndrome | Hydrocephalus | ORPHA:1895 | |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly | Hydrocephalus, Ventriculomegaly | OMIM:615630 | |
Vitamin K Antagonist Embryofetopathy | Hydrocephalus, Myelomeningocele | ORPHA:1914 | |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies | Colpocephaly, Communicating hydrocephalus, Ventriculomegaly | OMIM:615219 | |
Meckel Syndrome, Type 6 | Hydrocephalus, Anencephaly | OMIM:612284 | |
Joubert Syndrome 14 | Dandy-Walker malformation, Hydrocephalus | OMIM:614424 | |
Crouzon Disease | Hydrocephalus | ORPHA:207 | |
Williams-Beuren Region Duplication Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:609757 | |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome | Hydrocephalus | ORPHA:2180 | |
Thoracic Dysplasia-Hydrocephalus Syndrome | Communicating hydrocephalus | ORPHA:1861 | |
Ciliary Dyskinesia, Primary, 43 | Noncommunicating hydrocephalus | OMIM:618699 | |
Hydrocephaly-Low Insertion Umbilicus Syndrome | Communicating hydrocephalus | ORPHA:2184 | |
Ritscher-Schinzel Syndrome 1 | Dandy-Walker malformation, Hydrocephalus | OMIM:220210 | |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis | Hydrocephalus, Ventriculomegaly | OMIM:618476 | |
Hydrolethalus | Arrhinencephaly, Hydrocephalus, Anencephaly | ORPHA:2189 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Hydrocephalus | OMIM:300863 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly | ORPHA:370959 | |
Muenke Syndrome | Hydrocephalus | ORPHA:53271 | |
Lethal Omphalocele-Cleft Palate Syndrome | Hydrocephalus | ORPHA:2736 | |
Gorlin Syndrome | Hydrocephalus | ORPHA:377 | |
Myopathy, Centronuclear, X-Linked | Hydrocephalus | OMIM:310400 | |
Thanatophoric Dysplasia, Type I | Hydrocephalus | OMIM:187600 | |
Alkuraya-Kucinskas Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:617822 | |
Bresek Syndrome | Hydrocephalus | ORPHA:85284 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:60040 | |
Triploidy | Meningocele, Holoprosencephaly, Hydrocephalus | ORPHA:3376 | |
Albers-Schönberg Osteopetrosis | Hydrocephalus | ORPHA:53 | |
Congenital Disorder Of Glycosylation, Type Iil | Hydrocephalus, Ventriculomegaly | OMIM:614576 | |
Vacterl Association, X-Linked, With Or Without Hydrocephalus | Hydrocephalus | OMIM:314390 | |
Oculocerebrocutaneous Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | ORPHA:1647 | |
Arnold-Chiari Malformation Type Ii | Meningocele, Myelomeningocele, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis | ORPHA:1136 | |
Short-Rib Thoracic Dysplasia 18 With Polydactyly | Choroid plexus cyst, Hydrocephalus, Ventriculomegaly | OMIM:617866 | |
Diabetic Embryopathy | Spinal dysraphism, Hydrocephalus | ORPHA:1926 | |
Multiple Sulfatase Deficiency | Hydrocephalus, Increased CSF protein, Ventriculomegaly | OMIM:272200 | |
Acquired Aneurysmal Subarachnoid Hemorrhage | Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate | ORPHA:90065 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Holoprosencephaly, Hydrocephalus | ORPHA:77298 | |
Large Congenital Melanocytic Nevus | Hydrocephalus | ORPHA:626 | |
3C Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | ORPHA:7 | |
Czeizel-Losonci Syndrome | Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta | ORPHA:2437 | |
1Q44 Microdeletion Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:238769 | |
Beemer-Ertbruggen Syndrome | Communicating hydrocephalus | ORPHA:1237 | |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 | Hydrocephalus | OMIM:603387 | |
B4Galt1-Cdg | Dandy-Walker malformation, Hydrocephalus | ORPHA:79332 | |
Methylcobalamin Deficiency Type Cble | Hydrocephalus, Ventriculomegaly | ORPHA:2169 | |
Growth Retardation, Developmental Delay, And Facial Dysmorphism | Dandy-Walker malformation, Hydrocephalus | OMIM:612938 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Hydrocephalus | ORPHA:163966 | |
Plasminogen Deficiency, Type I | Dandy-Walker malformation, Hydrocephalus | OMIM:217090 | |
Absent Radius-Anogenital Anomalies Syndrome | Hydrocephalus | ORPHA:3016 | |
Hec Syndrome | Communicating hydrocephalus | ORPHA:2119 | |
Emanuel Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | ORPHA:96170 | |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Hydrocephalus | OMIM:616482 | |
Griscelli Syndrome | Hydrocephalus | ORPHA:381 | |
Peroxisome Biogenesis Disorder 12A (Zellweger) | Hydrocephalus | OMIM:614886 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Hydrocephalus, Ventriculomegaly | OMIM:616538 | |
Rhombencephalosynapsis | Hydrocephalus, Ventriculomegaly | ORPHA:59315 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Hydrocephalus | OMIM:615249 | |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome | Dandy-Walker malformation, Hydrocephalus | ORPHA:459061 | |
Cole-Carpenter Syndrome 2 | Hydrocephalus | OMIM:616294 | |
Familial Lambdoid Synostosis | Hydrocephalus | ORPHA:3267 | |
Thanatophoric Dysplasia Type 1 | Hydrocephalus, Ventriculomegaly | ORPHA:1860 | |
Walker-Warburg Syndrome | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | ORPHA:899 | |
Iniencephaly | Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc... | ORPHA:63259 | |
Peho Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:2836 | |
Chromosome 6Q24-Q25 Deletion Syndrome | Dilation of lateral ventricles, Hydrocephalus | OMIM:612863 | |
Chromosome 6Pter-P24 Deletion Syndrome | Dandy-Walker malformation, Hydrocephalus | OMIM:612582 | |
Intellectual Developmental Disorder, Autosomal Dominant 65 | Noncommunicating hydrocephalus | OMIM:619320 | |
Endocrine-Cerebroosteodysplasia | Holoprosencephaly, Hydrocephalus, Ventriculomegaly | OMIM:612651 | |
Pelvis-Shoulder Dysplasia | Spina bifida, Hydrocephalus, Hydranencephaly | ORPHA:2839 | |
Neonatal Lupus Erythematosus | Hydrocephalus | ORPHA:398124 | |
Fanconi Anemia, Complementation Group L | Hydrocephalus | OMIM:614083 | |
Tenorio Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:616260 | |
Lowry-Maclean Syndrome | Hydrocephalus | ORPHA:2409 | |
16P13.2 Microdeletion Syndrome | Dilated third ventricle, Hydrocephalus, Ventriculomegaly | ORPHA:500055 | |
Proteus-Like Syndrome | Communicating hydrocephalus, Hydrocephalus | ORPHA:2969 | |
Fanconi Anemia, Complementation Group B | Hydrocephalus, Ventriculomegaly | OMIM:300514 | |
Axial Mesodermal Dysplasia Spectrum | Hydrocephalus | ORPHA:1834 | |
Popov-Chang syndrome | Hydrocephalus | OMIM:618428 | |
Genitopalatocardiac Syndrome | Hydrocephalus | ORPHA:2075 | |
Axenfeld-Rieger Syndrome, Type 2 | Hydrocephalus | OMIM:601499 | |
Osteopetrosis, Autosomal Recessive 1 | Hydrocephalus | OMIM:259700 | |
Primary Ciliary Dyskinesia | Hydrocephalus, Ventriculomegaly | ORPHA:244 | |
Cerebral Visual Impairment | Hydrocephalus | ORPHA:447788 | |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome | Communicating hydrocephalus | ORPHA:1064 | |
Osteopetrosis, Autosomal Recessive 5 | Hydrocephalus | OMIM:259720 | |
Pfeiffer Syndrome Type 2 | Hydrocephalus, Aqueductal stenosis | ORPHA:93259 | |
Joubert Syndrome With Oculorenal Defect | Hydrocephalus | ORPHA:2318 | |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:1812 | |
47,Xyy Syndrome | Hydrocephalus | ORPHA:8 | |
Joubert Syndrome With Renal Defect | Hydrocephalus | ORPHA:220497 | |
Gracile Bone Dysplasia | Hydrocephalus | OMIM:602361 | |
Achondroplasia | Hydrocephalus | ORPHA:15 | |
Joubert Syndrome | Hydrocephalus | ORPHA:475 | |
Fg Syndrome Type 1 | Hydrocephalus, Ventriculomegaly | ORPHA:93932 | |
Oculocerebral Hypopigmentation Syndrome, Preus Type | Hydrocephalus | ORPHA:2720 | |
Thoracoabdominal Syndrome | Hydrocephalus, Anencephaly | OMIM:313850 | |
Tetrasomy 5P | Hydrocephalus | ORPHA:3309 | |
Congenital Sialidosis Type 2 | Hydrocephalus | ORPHA:93400 | |
Beare-Stevenson Cutis Gyrata Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:123790 | |
Trisomy 1Q | Hydrocephalus, Ventriculomegaly | ORPHA:261344 | |
Pfeiffer Syndrome | Hydrocephalus | OMIM:101600 | |
Trisomy 17P | Hydrocephalus | ORPHA:261290 | |
Vacterl With Hydrocephalus | Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis | ORPHA:3412 | |
Marfanoid-Progeroid-Lipodystrophy Syndrome | Asymmetric ventricles, Hydrocephalus | OMIM:616914 | |
Encephalocraniocutaneous Lipomatosis | Dandy-Walker malformation, Hydrocephalus | OMIM:613001 | |
Multiple Sulfatase Deficiency | Hydrocephalus | ORPHA:585 | |
Posterior Meningocele | Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele | ORPHA:268810 | |
Hyperphosphatasia With Mental Retardation Syndrome 1 | Hydrocephalus | OMIM:239300 | |
Adams-Oliver Syndrome | Hydrocephalus | ORPHA:974 | |
Joubert Syndrome With Ocular Defect | Hydrocephalus | ORPHA:220493 | |
Pseudotrisomy 13 Syndrome | Holoprosencephaly, Hydrocephalus | OMIM:264480 | |
Desmosterolosis | Hydrocephalus, Ventriculomegaly | ORPHA:35107 | |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis | Hydrocephalus | OMIM:618590 | |
Whipple Disease | Hydrocephalus | ORPHA:3452 | |
Lhermitte-Duclos Disease | Hydrocephalus | ORPHA:65285 | |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency | Hydrocephalus, Ventriculomegaly | ORPHA:395 | |
Arachnoid Cyst | Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis | ORPHA:2356 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:614643 | |
Functioning Gonadotropic Adenoma | Hydrocephalus | ORPHA:91348 | |
Dyssegmental Dysplasia, Rolland-Desbuquois Type | Hydrocephalus | OMIM:224400 | |
Mucopolysaccharidosis, Type Ii | Hydrocephalus | OMIM:309900 | |
Pentalogy Of Cantrell | Hydrocephalus, Anencephaly | ORPHA:1335 | |
Joubert Syndrome 2 | Hydrocephalus, Enlarged fossa interpeduncularis | OMIM:608091 | |
Distal Tetrasomy 15Q | Dandy-Walker malformation, Hydrocephalus | ORPHA:314588 | |
Dyssegmental Dysplasia, Silverman-Handmaker Type | Hydrocephalus | ORPHA:1865 | |
Cousin Syndrome | Hydranencephaly, Hydrocephalus | OMIM:260660 | |
Apert Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:87 | |
Tetraamelia-Multiple Malformations Syndrome | Hydrocephalus | ORPHA:3301 | |
Icf Syndrome | Communicating hydrocephalus | ORPHA:2268 | |
Holoprosencephaly 7 | Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly | OMIM:610828 | |
Glutaryl-Coa Dehydrogenase Deficiency | Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly | ORPHA:25 | |
Dural Sinus Malformation | Hydrocephalus | ORPHA:97339 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Hydrocephalus, Ventriculomegaly | OMIM:613150 | |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis | Hydrocephalus | OMIM:207410 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Holoprosencephaly, Hydrocephalus | OMIM:253800 | |
Spondyloepimetaphyseal Dysplasia, Krakow Type | Hydrocephalus | OMIM:618162 | |
Hurler Syndrome | Hydrocephalus | OMIM:607014 | |
Mucopolysaccharidosis, Type Vii | Hydrocephalus | OMIM:253220 | |
Gaucher Disease, Type Iiic | Hydrocephalus | OMIM:231005 | |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome | Hydrocephalus | ORPHA:1555 | |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation | Dilation of lateral ventricles, Normal pressure hydrocephalus | ORPHA:300570 | |
Hypoplasminogenemia | Dandy-Walker malformation, Hydrocephalus | ORPHA:722 | |
Short-Rib Thoracic Dysplasia 14 With Polydactyly | Hydrocephalus, Anencephaly | OMIM:616546 | |
Campomelic Dysplasia | Hydrocephalus | OMIM:114290 | |
Laurin-Sandrow Syndrome | Hydrocephalus | ORPHA:2378 | |
Mucopolysaccharidosis, Type Vi | Hydrocephalus | OMIM:253200 | |
Mirage Syndrome | Hydrocephalus | OMIM:617053 | |
Cardiofaciocutaneous Syndrome 1 | Hydrocephalus | OMIM:115150 | |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism | Hydrocephalus | OMIM:104350 | |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities | Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus | OMIM:619575 | |
Desmosterolosis | Hydrocephalus, Ventriculomegaly | OMIM:602398 | |
Osteootohepatoenteric Syndrome | Hydrocephalus | OMIM:619377 | |
Apert Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:101200 | |
Dextrocardia | Hydrocephalus | ORPHA:1666 | |
Ciliary Dyskinesia, Primary, 1 | Communicating hydrocephalus | OMIM:244400 | |
15Q Overgrowth Syndrome | Dandy-Walker malformation, Hydrocephalus | ORPHA:314585 | |
Cole-Carpenter Syndrome | Communicating hydrocephalus | ORPHA:2050 | |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form | Hydrocephalus, Ventriculomegaly | ORPHA:228308 | |
7Q11.23 Microduplication Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:96121 | |
Acrodysostosis 1 With Or Without Hormone Resistance | Hydrocephalus | OMIM:101800 | |
Raine Syndrome | Hydrocephalus | OMIM:259775 | |
Mohr Syndrome | Hydrocephalus | OMIM:252100 | |
Medulloblastoma | Hydrocephalus | ORPHA:616 | |
Alexander Disease | Hydrocephalus, Aqueductal stenosis | ORPHA:58 | |
Joubert Syndrome With Hepatic Defect | Hydrocephalus | ORPHA:1454 | |
Mosaic Variegated Aneuploidy Syndrome 1 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:257300 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Hydrocephalus | OMIM:277400 | |
Xeroderma Pigmentosum-Cockayne Syndrome Complex | Hydrocephalus | ORPHA:220295 | |
Short-Rib Thoracic Dysplasia 12 | Holoprosencephaly, Hydrocephalus, Anencephaly | OMIM:269860 | |
Otopalatodigital Syndrome Type 2 | Hydrocephalus, Myelomeningocele | ORPHA:90652 | |
Holoprosencephaly | Holoprosencephaly, Dandy-Walker malformation, Spinal dysraphism, Hydrocephalus | ORPHA:2162 | |
Acrofacial Dysostosis 1, Nager Type | Hydrocephalus, Aqueductal stenosis | OMIM:154400 | |
Carnitine Palmitoyltransferase Ii Deficiency | Hydrocephalus | ORPHA:157 | |
H Syndrome | Hydrocephalus | ORPHA:168569 | |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects | Hydrocephalus | OMIM:245600 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly | OMIM:236670 | |
Coccidioidomycosis | CSF lymphocytic pleiocytosis, Hypoglycorrhachia, CSF pleocytosis, Hydrocephalus, Increased CSF pr... | ORPHA:228123 | |
Mucopolysaccharidosis Type 1 | Hydrocephalus | ORPHA:579 | |
Monosomy 9Q22.3 | Hydrocephalus, Ventriculomegaly | ORPHA:77301 | |
Osteopetrosis, Autosomal Recessive 7 | Dilation of lateral ventricles, Hydrocephalus | OMIM:612301 | |
Cardiofaciocutaneous Syndrome | Hydrocephalus | ORPHA:1340 | |
Jacobsen Syndrome | Holoprosencephaly, Hydrocephalus | OMIM:147791 | |
Shprintzen-Goldberg Craniosynostosis Syndrome | Hydrocephalus | OMIM:182212 | |
Otopalatodigital Syndrome, Type Ii | Hydrocephalus | OMIM:304120 | |
Aymé-Gripp Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:1272 | |
Orofaciodigital Syndrome I | Hydrocephalus, Myelomeningocele | OMIM:311200 | |
Hurler Syndrome | Hydrocephalus | ORPHA:93473 | |
Monosomy 18Q | Hydrocephalus | ORPHA:1600 | |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation | Hydrocephalus, Ventriculomegaly | OMIM:617011 | |
Thakker-Donnai Syndrome | Communicating hydrocephalus | ORPHA:1780 | |
Hereditary Cryohydrocytosis With Reduced Stomatin | Communicating hydrocephalus, Hypoglycorrhachia | ORPHA:168577 | |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities | Hydrocephalus, Aqueductal stenosis | OMIM:619512 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Colpocephaly, Hydrocephalus | OMIM:309801 | |
Sturge-Weber Syndrome | Hydrocephalus | ORPHA:3205 | |
Isotretinoin-Like Syndrome | Hydrocephalus | ORPHA:2306 | |
Opitz-Kaveggia Syndrome | Hydrocephalus | OMIM:305450 | |
Cerebrooculonasal Syndrome | Hydrocephalus | OMIM:605627 | |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders | Hydrocephalus | ORPHA:505248 | |
Basal Cell Nevus Syndrome | Spina bifida, Hydrocephalus | OMIM:109400 | |
Osteopathia Striata With Cranial Sclerosis | Spina bifida occulta, Hydrocephalus | OMIM:300373 | |
Dubowitz Syndrome | Spina bifida occulta, Hydrocephalus | ORPHA:235 | |
Stromme Syndrome | Hydrocephalus | OMIM:243605 | |
Mucopolysaccharidosis Type 3 | Hydrocephalus, Ventriculomegaly | ORPHA:581 | |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:457284 | |
Mycophenolate Mofetil Embryopathy | Hydrocephalus | ORPHA:268249 | |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay | Communicating hydrocephalus | OMIM:616084 | |
1Q21.1 Microdeletion Syndrome | Hydrocephalus | ORPHA:250989 | |
Meckel Syndrome | Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly | ORPHA:564 | |
Neurofibromatosis, Type I | Spina bifida, Hydrocephalus, Aqueductal stenosis | OMIM:162200 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hydrocephalus | ORPHA:79282 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Holoprosencephaly, Hydrocephalus | ORPHA:2166 | |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome | Hydrocephalus | ORPHA:536467 | |
Trisomy 8P | Dandy-Walker malformation, Hydrocephalus | ORPHA:264450 | |
Shprintzen-Goldberg Syndrome | Communicating hydrocephalus, Ventriculomegaly | ORPHA:2462 | |
Pituitary Deficiency Due To Rathke Cleft Cysts | Hydrocephalus | ORPHA:91350 | |
Craniopharyngioma | Hydrocephalus | ORPHA:54595 | |
Knobloch Syndrome | Hydrocephalus | ORPHA:1571 | |
Capillary Malformation-Arteriovenous Malformation | Hydrocephalus | ORPHA:137667 | |
Meckel Syndrome, Type 1 | Dandy-Walker malformation, Hydrocephalus, Anencephaly | OMIM:249000 | |
Fanconi Anemia, Complementation Group D2 | Hydrocephalus | OMIM:227646 | |
Kabuki Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:2322 | |
Koolen-De Vries Syndrome Due To A Point Mutation | Spina bifida, Hydrocephalus, Ventriculomegaly | ORPHA:363965 | |
17Q21.31 Microdeletion Syndrome | Spina bifida, Hydrocephalus, Ventriculomegaly | ORPHA:363958 | |
22Q11.2 Deletion Syndrome | Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus | ORPHA:567 | |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome | Hydrocephalus | ORPHA:163979 | |
Hajdu-Cheney Syndrome | Hydrocephalus | OMIM:102500 | |
Fanconi Anemia | Spina bifida, Hydrocephalus, Ventriculomegaly | ORPHA:84 | |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency | Hydrocephalus | ORPHA:95699 | |
Mend Syndrome | Dandy-Walker malformation, Hydrocephalus | ORPHA:401973 | |
Smith-Lemli-Opitz Syndrome | Holoprosencephaly, Dandy-Walker malformation, Hydrocephalus | OMIM:270400 | |
Cryptococcosis | Hydrocephalus | ORPHA:1546 | |
Hajdu-Cheney Syndrome | Hydrocephalus | ORPHA:955 | |
Craniofacial Microsomia | Hydrocephalus | OMIM:164210 | |
Limb Body Wall Complex | Anencephaly, Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta | ORPHA:2369 | |
Marden-Walker Syndrome | Hydrocephalus | ORPHA:2461 | |
Osteogenesis Imperfecta | Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly | ORPHA:666 | |
Histiocytoid Cardiomyopathy | Hydrocephalus | ORPHA:137675 | |
Holoprosencephaly 9 | Holoprosencephaly, Hydrocephalus | OMIM:610829 | |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities | Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly | OMIM:619475 | |
Gaucher Disease | Hydrocephalus, Ventriculomegaly | ORPHA:355 | |
Lymphangioleiomyomatosis | Hydrocephalus | ORPHA:538 | |
Distal 22Q11.2 Microduplication Syndrome | Hydrocephalus | ORPHA:261337 | |
Neurofibromatosis Type 2 | Hydrocephalus | ORPHA:637 | |
Meningioma | Hydrocephalus | ORPHA:2495 | |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome | Hydrocephalus, Ventriculomegaly | ORPHA:2072 | |
Lenz-Majewski Hyperostotic Dwarfism | Hydrocephalus | ORPHA:2658 | |
Alpha-Mannosidosis, Infantile Form | Communicating hydrocephalus | ORPHA:309282 | |
Facial Dysmorphism With Multiple Malformations | Hydrocephalus | OMIM:227255 | |
Pseudoaminopterin Syndrome | Hydrocephalus | ORPHA:221120 | |
Microphthalmia With Limb Anomalies | Arrhinencephaly, Hydrocephalus | ORPHA:1106 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Hydrocephalus, Ventriculomegaly | OMIM:253280 | |
Wiedemann-Rautenstrauch Syndrome | Dandy-Walker malformation, Hydrocephalus | OMIM:264090 | |
Baller-Gerold Syndrome | Spina bifida occulta, Hydrocephalus | OMIM:218600 | |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome | Communicating hydrocephalus, Ventriculomegaly | ORPHA:457359 | |
Microphthalmia With Linear Skin Defects Syndrome | Hydrocephalus | ORPHA:2556 | |
Fontaine Progeroid Syndrome | Hydrocephalus | OMIM:612289 | |
Tetraamelia Syndrome 1 | Hydrocephalus | OMIM:273395 | |
Oeis Complex | Hydrocephalus, Myelomeningocele | OMIM:258040 | |
Alobar Holoprosencephaly | Hydrocephalus, Neural tube defect | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Hydrocephalus, Neural tube defect | ORPHA:93926 | |
Semilobar Holoprosencephaly | Hydrocephalus, Neural tube defect | ORPHA:220386 | |
Lobar Holoprosencephaly | Hydrocephalus, Neural tube defect | ORPHA:93924 | |
Cockayne Syndrome A | Normal pressure hydrocephalus | OMIM:216400 | |
Autosomal Recessive Malignant Osteopetrosis | Hydrocephalus | ORPHA:667 | |
Costello Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:218040 | |
Cockayne Syndrome B | Normal pressure hydrocephalus | OMIM:133540 | |
Fraser Syndrome 1 | Hydrocephalus, Myelomeningocele | OMIM:219000 | |
Focal Dermal Hypoplasia | Spina bifida occulta, Hydrocephalus, Myelomeningocele | OMIM:305600 | |
Loeys-Dietz Syndrome 1 | Hydrocephalus | OMIM:609192 | |
Fetal Akinesia Deformation Sequence 1 | Hydrocephalus | OMIM:208150 | |
Yunis-Varon Syndrome | Arrhinencephaly, Hydrocephalus | ORPHA:3472 | |
Neurofibromatosis Type 1 | Hydrocephalus | ORPHA:636 | |
Hydrolethalus Syndrome 1 | Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Anencephaly | OMIM:236680 | |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies | Hydrocephalus | OMIM:619321 | |
Wolf-Hirschhorn Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:194190 | |
Tetrasomy 9P | Dandy-Walker malformation, Hydrocephalus | ORPHA:3310 | |
Tuberous Sclerosis Complex | Noncommunicating hydrocephalus, Subependymal nodules | ORPHA:805 | |
Mucopolysaccharidosis Type 2 | Communicating hydrocephalus | ORPHA:580 | |
Peters Plus Syndrome | Spina bifida occulta, Hydrocephalus, Ventriculomegaly | ORPHA:709 | |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome | Hydrocephalus | ORPHA:3042 | |
Biliary, Renal, Neurologic, And Skeletal Syndrome | Dilation of lateral ventricles, Hydrocephalus, Aqueductal stenosis | OMIM:619534 | |
Wiedemann-Rautenstrauch Syndrome | Hydrocephalus | ORPHA:3455 | |
Loeys-Dietz Syndrome 2 | Hydrocephalus | OMIM:610168 | |
Chromosome 1P36 Deletion Syndrome, Distal | Dilation of lateral ventricles, Hydrocephalus | OMIM:607872 | |
Split Cord Malformation | Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele | ORPHA:573278 | |
Peters-Plus Syndrome | Hydrocephalus, Ventriculomegaly | OMIM:261540 | |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion | Hydrocephalus | ORPHA:363700 | |
Exstrophy-Epispadias Complex | Spina bifida, Hydrocephalus | ORPHA:322 | |
Simpson-Golabi-Behmel Syndrome, Type 1 | Hydrocephalus | OMIM:312870 | |
Coffin-Siris Syndrome 12 | Noncommunicating hydrocephalus | OMIM:619325 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hydrocephalus | OMIM:175780 | |
Roberts-Sc Phocomelia Syndrome | Hydrocephalus | OMIM:268300 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Pigutm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Pigutm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
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