Gene Summary

synaptotagmin IX

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Syt9em1(IMPC)Tcp HOM Early adult 0.00
increased red blood cell distribution width Syt9em1(IMPC)Tcp HOM Early adult 2.18×10-05
decreased exploration in new environment Syt9em1(IMPC)Tcp HOM Early adult 2.23×10-06

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

55 Images

Eye Morphology

Images Slit Lamp

12 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Syt9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Syt9 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Papilloma Of Choroid Plexus
Cognitive impairment, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Cognitive impairment, Increased CSF protein, Memory impairment, Hydrocephalus ORPHA:251912
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Atypical Teratoid Rhabdoid Tumor
Apathy, Irritability, Hydrocephalus ORPHA:99966
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Papillary Tumor Of The Pineal Region
Cognitive impairment, Increased CSF protein, Memory impairment, Hydrocephalus ORPHA:251915
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Hydrocephalus, Normal-Pressure, 1
Dementia, Normal pressure hydrocephalus OMIM:236690
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus OMIM:148800
Melanosis, Neurocutaneous
Dandy-Walker malformation, Mental deterioration, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Irritability, Decreased ... OMIM:618278
Fried Syndrome
Hydrocephalus, Aggressive behavior ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Nasu-Hakola Disease
Ventriculomegaly, Irritability, Memory impairment, Acute leukemia, Frontal lobe dementia, Hydroce... ORPHA:2770
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Gómez-López-Hernández Syndrome
Cognitive impairment, Hydrocephalus ORPHA:1532
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Congenital Toxoplasmosis
Ventriculomegaly, Thrombocytopenia, Anemia, Cognitive impairment, Hydrocephalus ORPHA:858
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Hydrocephalus, Anemia OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hep... OMIM:610333
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Self-injurious behavior OMIM:304340
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Hydrocephalus ORPHA:261102
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hydrocephalus, Anemia, Splenomegaly ORPHA:163596
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Krabbe Disease
Increased CSF protein, Motor deterioration, Hydrocephalus, Autoimmune thrombocytopenia OMIM:245200
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Hydrocephalus, Dementia ORPHA:1946
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Cognitive impairment, Hydrocephalus ORPHA:588
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Hydrocephalus OMIM:100800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Leukemia OMIM:602501
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Leukocytosis, Increased CSF lactate, Hyperglycorrhachia, Co... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cognitive impairment, Hydrocephalus OMIM:615181
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Hydrocephalus ORPHA:398189
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Thanatophoric Dysplasia Type 2
Cognitive impairment, Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomeg... ORPHA:398124
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Infantile Sialic Acid Storage Disease
Hydrocephalus, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Lissencephaly 5
Hydrocephalus OMIM:615191
Central Precocious Puberty
Hydrocephalus ORPHA:759
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Temple Syndrome
Hydrocephalus OMIM:616222
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Hydrocephalus, Ma... ORPHA:2169
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Anemia ORPHA:53
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Nephronophthisis 18
Hydrocephalus OMIM:615862
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Mental deterioration, Hydrocephalus OMIM:618476
Cognitive impairment, Hydrocephalus, Anemia, Splenomegaly ORPHA:763
Joubert Syndrome 14
Irritability, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Familial Lambdoid Synostosis
Hydrocephalus, Stomatocytosis ORPHA:3267
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Multiple Sulfatase Deficiency
Ventriculomegaly, Rapid neurologic deterioration, Increased CSF protein, Splenomegaly, Hydrocephalus OMIM:272200
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Leukopenia, Splenomegaly, Hydrocephalus ORPHA:381
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Coach Syndrome 2
Hydrocephalus OMIM:619111
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Arnold-Chiari Malformation Type Ii
Ventriculomegaly, Aqueductal stenosis, Emotional lability, Meningocele, Anxiety, Myelomeningocele... ORPHA:1136
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Splenomegaly OMIM:615630
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Communicating hydrocephalus, Anemia ORPHA:2268
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hydrocephalus OMIM:259700
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
Williams-Beuren Region Duplication Syndrome
Anxiety, Ventriculomegaly, Hydrocephalus OMIM:609757
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Temple Syndrome
Hydrocephalus ORPHA:254516
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Hydrocephalus ORPHA:1908
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, B lymphocytopenia, Splenomeg... OMIM:616084
Hydrocephalus ORPHA:252054
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Hydrocephalus OMIM:614576
Hydrocephalus ORPHA:137817
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus ORPHA:2720
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Popov-Chang syndrome
Self-injurious behavior, Hydrocephalus, Lymphopenia OMIM:618428
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Fanconi Anemia, Complementation Group L
Hydrocephalus, Anemia OMIM:614083
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Crouzon Disease
Hydrocephalus ORPHA:207
Multiple Sulfatase Deficiency
Splenomegaly, Hydrocephalus, Rapid neurologic deterioration ORPHA:585
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Anxiety, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus ORPHA:370959
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Dementia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Hydrocephalus OMIM:277400
Gorlin Syndrome
Hydrocephalus ORPHA:377
16P13.2 Microdeletion Syndrome
Skin-picking, Aggressive behavior, Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen, Hydrocephalus OMIM:617053
Muenke Syndrome
Hydrocephalus ORPHA:53271
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Ventriculomegaly, Aplastic anemia, Hydrocephalus OMIM:300514
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Bresek Syndrome
Hydrocephalus ORPHA:85284
Tenorio Syndrome
Anxiety, Ventriculomegaly, Hydrocephalus OMIM:616260
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Ventriculomegaly, Mental deterioration, Hydrocephalus ORPHA:395
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Noncommunicating hydrocephalus OMIM:619320
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Glutaryl-Coa Dehydrogenase Deficiency
Dementia, Ventriculomegaly, Cognitive impairment, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Proteus-Like Syndrome
Thymus hyperplasia, Communicating hydrocephalus, Hydrocephalus, Splenomegaly ORPHA:2969
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Hypoglycorrhachia, Hepatosplenomegaly, Communicatin... ORPHA:168577
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Whipple Disease
Hydrocephalus, Anemia, Splenomegaly ORPHA:3452
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Cognitive impairment, Irritability, Hydrocephalus ORPHA:616
Gracile Bone Dysplasia
Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Gaucher Disease, Type Iiic
Pancytopenia, Hydrocephalus, Splenomegaly OMIM:231005
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Hurler Syndrome
Progressive neurologic deterioration, Hepatosplenomegaly, Hydrocephalus, Splenomegaly OMIM:607014
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus ORPHA:1834
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Adams-Oliver Syndrome
Thrombocytopenia, Hydrocephalus, Leukopenia ORPHA:974
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dementia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Memory impairment, Mental deterior... ORPHA:79282
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Ventriculomegaly, Hydrocephalus ORPHA:59315
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Primary Ciliary Dyskinesia
Ventriculomegaly, Asplenia, Hydrocephalus, Polysplenia ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Osteopetrosis, Autosomal Recessive 7
Anemia, Hydrocephalus, Dilation of lateral ventricles, Splenomegaly OMIM:612301
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Congenital Sialidosis Type 2
Hepatosplenomegaly, Hydrocephalus ORPHA:93400
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Hydrocephalus OMIM:227646
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
H Syndrome
Histiocytosis, Hepatosplenomegaly, Hydrocephalus, Microcytic anemia ORPHA:168569
Pentalogy Of Cantrell
Polysplenia, Hydrocephalus, Anencephaly ORPHA:1335
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Splenomegaly OMIM:253220
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Splenomegaly OMIM:309900
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Memory impairment, Lymphoid leukemia, Mental deterioration, Hydrocephalus ORPHA:1546
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
7Q11.23 Microduplication Syndrome
Aggressive behavior, Ventriculomegaly, Self-injurious behavior, Anxiety, Hydrocephalus ORPHA:96121
Joubert Syndrome
Hydrocephalus ORPHA:475
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
CSF lymphocytic pleiocytosis, Increased CSF protein, CSF pleocytosis, Cognitive impairment, Hypog... ORPHA:228123
Alexander Disease
Self-injurious behavior, Hydrocephalus, Aqueductal stenosis, Emotional lability ORPHA:58
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Anemia, Leukopenia, Hepatosplenomegaly, Hydrocephalus ORPHA:505248
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Trisomy 17P
Hydrocephalus ORPHA:261290
Ventriculomegaly, Hydrocephalus, Splenomegaly ORPHA:35107
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Asymmetric ventricles OMIM:616914
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Abnormality of the spleen, Hydrocephalus ORPHA:1666
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Dubowitz Syndrome
Abnormality of neutrophils, Thrombocytopenia, Anemia, Spina bifida occulta, Acute lymphoblastic l... ORPHA:235
Hydrocephalus ORPHA:15
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Splenomegaly OMIM:253200
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Aggressive behavior, Dementia, Ventriculomegaly, Splenomega... ORPHA:581
Holoprosencephaly, Spinal dysraphism, Cognitive impairment, Abnormality of the spleen, Hydrocepha... ORPHA:2162
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus ORPHA:1865
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Leukemia OMIM:257300
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Splenomegaly OMIM:115150
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Jacobsen Syndrome
Thrombocytopenia, Holoprosencephaly, Hydrocephalus OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hydrocephalus, Anemia ORPHA:163979
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Mucopolysaccharidosis Type 1
Hydrocephalus, Splenomegaly ORPHA:579
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Abnormality of the spleen... ORPHA:2072
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Hydrocephalus, Anencephaly, Splenomegaly OMIM:269860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Emotional lability, Cognitive impairment, Memory impairment, Transient global amnesia, Hydrocephalus ORPHA:2495
Fanconi Anemia
Spina bifida, Ventriculomegaly, Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leu... ORPHA:84
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus ORPHA:90652
Mohr Syndrome
Hydrocephalus OMIM:252100
1Q21.1 Microdeletion Syndrome
Anxiety, Hydrocephalus ORPHA:250989
Raine Syndrome
Hydrocephalus OMIM:259775
Gaucher Disease
Ventriculomegaly, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hydrocephalus ORPHA:355
Ventriculomegaly, Hydrocephalus OMIM:602398
Meckel Syndrome
Accessory spleen, Anencephaly, Asplenia, Lobar holoprosencephaly, Hydrocephalus, Dandy-Walker mal... ORPHA:564
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Aggressive behavior ORPHA:401973
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Monosomy 9Q22.3
Ventriculomegaly, Hydrocephalus ORPHA:77301
Hurler Syndrome
Hydrocephalus, Splenomegaly ORPHA:93473
Stromme Syndrome
Accessory spleen, Hydrocephalus OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:236670
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1272
22Q11.2 Deletion Syndrome
Spina bifida, Arrhinencephaly, Meningocele, Thrombocytopenia, Hypoplasia of the thymus, Anxiety, ... ORPHA:567
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Hydrocephalus OMIM:617011
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus OMIM:109400
Cognitive impairment, Hydrocephalus ORPHA:538
Monosomy 18Q
Hydrocephalus ORPHA:1600
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus OMIM:309801
Neurofibromatosis Type 2
Memory impairment, Hydrocephalus ORPHA:637
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Alpha-Mannosidosis, Infantile Form
Anxiety, Hepatosplenomegaly, Pancytopenia, Communicating hydrocephalus ORPHA:309282
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Splenomegaly, Cognitive impairment, Me... ORPHA:580
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Holoprosencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:270400
Cerebrooculonasal Syndrome
Hydrocephalus OMIM:605627
Meckel Syndrome, Type 1
Accessory spleen, Anencephaly, Asplenia, Splenomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:249000
Koolen-De Vries Syndrome Due To A Point Mutation
Anxiety, Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Anxiety, Spina bifida, Ventriculomegaly, Hydrocephalus ORPHA:363958
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:457284
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Semilobar Holoprosencephaly
Apathy, Neural tube defect, Irritability, Anxiety, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Apathy, Neural tube defect, Irritability, Anxiety, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Apathy, Neural tube defect, Irritability, Anxiety, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Apathy, Neural tube defect, Irritability, Anxiety, Hydrocephalus ORPHA:93924
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Splenomegaly ORPHA:1454
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:2166
Hydrocephalus ORPHA:54595
Neurofibromatosis Type 1
Memory impairment, Leukemia, Chronic myelogenous leukemia, Hydrocephalus ORPHA:636
Kabuki Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2322
Hajdu-Cheney Syndrome
Hydrocephalus, Splenomegaly ORPHA:955
Knobloch Syndrome
Hydrocephalus ORPHA:1571
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Anemia, Splenomegaly ORPHA:667
Cockayne Syndrome A
Splenomegaly, Dementia, Normal pressure hydrocephalus OMIM:216400
Osteogenesis Imperfecta
Thrombocytopenia, Ventriculomegaly, Hydrocephalus, Noncommunicating hydrocephalus ORPHA:666
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Tuberous Sclerosis Complex
Aggressive behavior, Self-injurious behavior, Anxiety, Subependymal nodules, Noncommunicating hyd... ORPHA:805
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Anemia ORPHA:3042
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Hemifacial Microsomia
Hydrocephalus OMIM:164210
Limb Body Wall Complex
Spina bifida, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2369
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus OMIM:273395
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Holoprosencephaly 9
Holoprosencephaly, Hydrocephalus OMIM:610829
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Pseudoaminopterin Syndrome
Asplenia, Hydrocephalus ORPHA:221120
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Cockayne Syndrome B
Splenomegaly, Normal pressure hydrocephalus OMIM:133540
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Hydrocephalus OMIM:619321
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Hydrolethalus Syndrome 1
Accessory spleen, Arrhinencephaly, Anencephaly, Severe hydrocephalus, Dandy-Walker malformation OMIM:236680
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Costello Syndrome
Ventriculomegaly, Hydrocephalus OMIM:218040
Wolf-Hirschhorn Syndrome
Ventriculomegaly, Accessory spleen, Hydrocephalus OMIM:194190
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus OMIM:219000
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:305600
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Yunis-Varon Syndrome
Arrhinencephaly, Hydrocephalus ORPHA:3472
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Chromosome 1P36 Deletion Syndrome
Self-mutilation, Hydrocephalus, Dilation of lateral ventricles, Aggressive behavior OMIM:607872
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Hydrocephalus, Splenomegaly OMIM:312870
Peters Plus Syndrome
Ventriculomegaly, Hydrocephalus, Spina bifida occulta ORPHA:709
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus OMIM:175780
Peters-Plus Syndrome
Ventriculomegaly, Hydrocephalus OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Split Cord Malformation
Cervical spina bifida, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus ORPHA:573278
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hydrocephalus OMIM:268300


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 Syt9

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 Syt9.

No publications found that use IMPC mice or data for Syt9.

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MGI Allele Allele Type Produced
Syt9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syt9em1(IMPC)Tcp Exon Deletion Mice
Syt9tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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