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
increased red blood cell distribution width Syt9em1(IMPC)Tcp HOM Early adult 3.05×10-05
hydrocephaly Syt9em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Syt9em1(IMPC)Tcp HOM Early adult 1.96×10-06

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

55 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


9 Images

Eye Morphology

Images Slit Lamp

12 Images


XRay Images Skull Dorso Ventral 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
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Cognitive impairment ORPHA:2807
Hydrocephalus, Increased CSF protein, Memory impairment, Cognitive impairment ORPHA:251912
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Apathy, Irritability ORPHA:99966
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Memory impairment ORPHA:1008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein, Memory impairment, Cognitive impairment ORPHA:251915
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Dementia OMIM:236690
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Melanosis, Neurocutaneous
Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hydrocephalus OMIM:148800
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Fried Syndrome
Hydrocephalus, Aggressive behavior ORPHA:85335
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Anxiety, Frontal encephalocele ORPHA:261102
Nasu-Hakola Disease
Hydrocephalus, Memory impairment, Frontal lobe dementia, Ventriculomegaly, Acute leukemia, Irrita... ORPHA:2770
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Congenital Toxoplasmosis
Hydrocephalus, Cognitive impairment, Ventriculomegaly, Anemia, Thrombocytopenia ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Increased CSF lactate OMIM:604273
Gómez-López-Hernández Syndrome
Hydrocephalus, Cognitive impairment ORPHA:1532
Alexander Disease
Apathy, Hydrocephalus, Increased CSF protein OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Aggressive behavior OMIM:619470
Pettigrew Syndrome
Hydrocephalus, Self-injurious behavior, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ... OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation OMIM:300884
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Aggressive behavior, Self-mutilation OMIM:616521
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Hydrocephalus, Dementia ORPHA:1946
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Krabbe Disease
Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein, Motor deterioration OMIM:245200
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Muscle-Eye-Brain Disease
Hydrocephalus, Cognitive impairment, Meningocele, Holoprosencephaly ORPHA:588
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anxiety, Aggressive behavior OMIM:300558
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Hydrocephalus OMIM:100800
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Thanatophoric Dysplasia Type 2
Hydrocephalus, Cognitive impairment, Holoprosencephaly, Ventriculomegaly, Encephalocele ORPHA:93274
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Leukocytosis, Hyperglycorrhachia, Cognitive impairment, Pro... ORPHA:90065
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia... ORPHA:398124
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Infantile Sialic Acid Storage Disease
Hydrocephalus, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Central Precocious Puberty
Hydrocephalus ORPHA:759
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Joubert Syndrome 14
Hydrocephalus, Irritability, Dandy-Walker malformation, Encephalocele OMIM:614424
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation OMIM:615287
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Temple Syndrome
Hydrocephalus OMIM:616222
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hydrocephalus, Neutropenia, Macrocytic anemia, Ventriculomegal... ORPHA:2169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Albers-Schönberg Osteopetrosis
Anemia, Hydrocephalus, Abnormal leukocyte morphology ORPHA:53
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Anxiety, Ventriculomegaly OMIM:609757
Nephronophthisis 18
Hydrocephalus OMIM:615862
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Self-injurious behavior, Ventriculomegaly, Aggressive behavior, Colpocephaly, Irri... OMIM:619833
Griscelli Syndrome
Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils, Encephalocele, Thrombocytopenia ORPHA:381
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Hydrocephalus, Ventriculomegaly OMIM:618476
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Multiple Sulfatase Deficiency
Hydrocephalus, Splenomegaly, Ventriculomegaly, Rapid neurologic deterioration, Increased CSF protein OMIM:272200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly OMIM:602200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:611134
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Coach Syndrome 2
Hydrocephalus OMIM:619111
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:615630
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Emotional lability, Anxiety, Ventriculomega... ORPHA:1136
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele ORPHA:1908
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypo... OMIM:259720
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Communicating hydrocephalus ORPHA:2268
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Temple Syndrome
Hydrocephalus ORPHA:254516
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Splenomegaly, Ventriculomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly OMIM:616355
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Schi... OMIM:616084
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Hydrocephalus ORPHA:252054
Hydrocephalus ORPHA:137817
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia ORPHA:2720
Popov-Chang syndrome
Hydrocephalus, Self-injurious behavior, Lymphopenia OMIM:618428
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Hydrocephalus, Dandy-Walker malformation, Splenomegaly ORPHA:79332
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:370959
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Multiple Sulfatase Deficiency
Hydrocephalus, Rapid neurologic deterioration, Splenomegaly ORPHA:585
Dural Sinus Malformation
Hydrocephalus, Apathy, Mental deterioration, Myelopathy, Dementia ORPHA:97339
Arachnoid Cyst
Social and occupational deterioration, Hydrocephalus, Holoprosencephaly, Memory impairment, Enlar... ORPHA:2356
Crouzon Syndrome
Hydrocephalus ORPHA:207
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Anxiety, Dandy-Walker malformation ORPHA:459061
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 65
Aggressive behavior, Noncommunicating hydrocephalus OMIM:619320
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Aggressive behavior, Ventriculomegaly, Skin-picking ORPHA:500055
Fanconi Anemia, Complementation Group B
Hydrocephalus, Thrombocytopenia, Aplastic anemia, Ventriculomegaly OMIM:300514
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Bresek Syndrome
Hydrocephalus ORPHA:85284
Mirage Syndrome
Hydrocephalus, Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Gorlin Syndrome
Hydrocephalus ORPHA:377
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hydrocephalus, Neutropenia, Thrombocytopenia, Dementia OMIM:277400
Tenorio Syndrome
Hydrocephalus, Anxiety, Ventriculomegaly OMIM:616260
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Hydrocephalus, Ventriculomegaly, Cognitive impairment ORPHA:395
Gracile Bone Dysplasia
Hydrocephalus, Hypoplastic spleen, Asplenia OMIM:602361
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Muenke Syndrome
Hydrocephalus ORPHA:53271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Cognitive impairment, Communicating hydrocephalus, Ventriculomegaly, Dementia ORPHA:25
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Proteus-Like Syndrome
Thymus hyperplasia, Hydrocephalus, Communicating hydrocephalus, Splenomegaly ORPHA:2969
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Ventriculomegaly... OMIM:619895
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly OMIM:617866
Adams-Oliver Syndrome
Hydrocephalus, Thrombocytopenia, Leukopenia, Encephalocele ORPHA:974
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Whipple Disease
Anemia, Hydrocephalus, Splenomegaly ORPHA:3452
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Hypoglycorrhachia, Spontaneous hemolytic crises, Communicating hydrocephalus,... ORPHA:168577
Primary Ciliary Dyskinesia
Hydrocephalus, Polysplenia, Ventriculomegaly, Asplenia ORPHA:244
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly OMIM:617822
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Gaucher Disease, Type Iiic
Pancytopenia, Hydrocephalus, Splenomegaly OMIM:231005
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Hydrocephalus, Irritability, Cognitive impairment ORPHA:616
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormality of the spleen ORPHA:1834
Hydrocephalus, Ventriculomegaly ORPHA:59315
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hydrocephalus, Mental deterioration, Memory impairment, Neutropenia, Thromb... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Osteootohepatoenteric Syndrome
Anemia, Hydrocephalus OMIM:619377
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Pentalogy Of Cantrell
Hydrocephalus, Polysplenia, Anencephaly, Encephalocele ORPHA:1335
Hurler Syndrome
Hepatosplenomegaly, Hydrocephalus, Progressive neurologic deterioration, Splenomegaly OMIM:607014
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Congenital Sialidosis Type 2
Hydrocephalus, Hepatosplenomegaly ORPHA:93400
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... ORPHA:63259
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Neutropenia, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia OMIM:227646
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Leukemia OMIM:619951
Osteopetrosis, Autosomal Recessive 7
Anemia, Hydrocephalus, Splenomegaly OMIM:612301
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Hydrocephalus, Splenomegaly OMIM:309900
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
H Syndrome
Histiocytosis, Hydrocephalus, Microcytic anemia, Hepatosplenomegaly ORPHA:168569
Hydrocephalus, Ventriculomegaly, Splenomegaly ORPHA:35107
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus OMIM:612863
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Hydrocephalus, Self-injurious behavior, Dilated third ventricle OMIM:619575
Alexander Disease
Hydrocephalus, Self-injurious behavior, Aqueductal stenosis, Emotional lability ORPHA:58
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Hydrocephalus, Cognitive impairment, CSF pleocytosis, Hypoglycorrhachia, Eosinophilia, Abnormalit... ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Hydrocephalus ORPHA:15
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Mental deterioration, Hydrocephalus, Memory impairment, Lymphoid leukemia ORPHA:1546
Trisomy 17P
Hydrocephalus ORPHA:261290
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
7Q11.23 Microduplication Syndrome
Hydrocephalus, Self-injurious behavior, Anxiety, Aggressive behavior, Ventriculomegaly ORPHA:96121
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, Emotional lability ORPHA:300570
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Splenomegaly OMIM:253220
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Semilobar holoprosencephaly OMIM:610828
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus, Leukopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:505248
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Hydrocephalus, Abnormality of the spleen ORPHA:1666
Hydrocephalus, Holoprosencephaly, Cognitive impairment, Abnormality of the spleen, Spinal dysraph... ORPHA:2162
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Mucopolysaccharidosis Type 3
Hydrocephalus, Splenomegaly, Progressive neurologic deterioration, Aggressive behavior, Ventricul... ORPHA:581
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta, Thrombocytopenia, Abnormality of neutrophils, Anemia, Acute ... ORPHA:235
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Splenomegaly ORPHA:1454
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Splenomegaly OMIM:115150
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Anxiety ORPHA:250989
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Anxiety, Self-injurious behavior, Aqueductal stenosis OMIM:619512
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Splenomegaly, Holoprosencephaly OMIM:269860
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Leukemia, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Ventriculomegaly, Meningoencephalocele, Occipital encephalocele, Dandy-Walker malf... OMIM:236670
Mucopolysaccharidosis Type 1
Hydrocephalus, Splenomegaly ORPHA:579
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Jacobsen Syndrome
Hydrocephalus, Thrombocytopenia, Holoprosencephaly OMIM:147791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Hydrocephalus, Ventriculomegaly OMIM:602398
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hydrocephalus, Thrombocytopenia ORPHA:163979
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Hurler Syndrome
Hydrocephalus, Splenomegaly ORPHA:93473
Monosomy 18Q
Hydrocephalus ORPHA:1600
Stromme Syndrome
Hydrocephalus, Accessory spleen OMIM:243605
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Fanconi Anemia, Complementation Group L
Anemia, Hydrocephalus OMIM:614083
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Ventriculomegaly, Pan... ORPHA:2072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Irritability, Cognitive impairment, Anxiety, Suicidal ideation, Aggressive behavio... OMIM:619475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Encephalocele ORPHA:90652
Meckel Syndrome
Hydrocephalus, Accessory spleen, Anencephaly, Asplenia, Encephalocele, Lobar holoprosencephaly, D... ORPHA:564
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Mohr Syndrome
Hydrocephalus OMIM:252100
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Hydrocephalus, Cognitive impairment, Memory impairment, Emotional lability, Transient global amnesia ORPHA:2495
Fanconi Anemia
Hydrocephalus, Leukopenia, Thrombocytopenia, Ventriculomegaly, Anemia, Spina bifida, Pyridoxine-r... ORPHA:84
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Splenomegaly, Cervical myelopathy OMIM:253200
Gaucher Disease
Hydrocephalus, Splenomegaly, Ventriculomegaly, Pancytopenia, Anemia, Thrombocytopenia ORPHA:355
Neurofibromatosis Type 2
Hydrocephalus, Myelopathy, Memory impairment ORPHA:637
Meckel Syndrome, Type 1
Hydrocephalus, Splenomegaly, Accessory spleen, Dilated fourth ventricle, Anencephaly, Ventriculom... OMIM:249000
Mend Syndrome
Hydrocephalus, Aggressive behavior, Dandy-Walker malformation ORPHA:401973
Sacral Defect With Anterior Meningocele
Myelomeningocele, Hydrocephalus, Myeloschisis, Meningocele OMIM:600145
22Q11.2 Deletion Syndrome
Hydrocephalus, Splenomegaly, Hypoplasia of the thymus, Anxiety, Arrhinencephaly, Thrombocytopenia... ORPHA:567
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Otopalatodigital Syndrome, Type Ii
Hydrocephalus OMIM:304120
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hydrocephalus, Ventriculomegaly OMIM:617011
Raine Syndrome
Hydrocephalus OMIM:259775
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Hydrocephalus, Cognitive impairment ORPHA:538
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Anxiety, Communicating hydrocephalus, Pancytopenia ORPHA:309282
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602535
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida OMIM:109400
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Splenomegaly, Holoprosencephaly, Self-mutilation, Aggressive behavior, Colpocephal... OMIM:270400
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hydrocephalus, Splenomegaly ORPHA:667
Mucopolysaccharidosis Type 2
Cognitive impairment, Mental deterioration, Splenomegaly, Progressive neurologic deterioration, C... ORPHA:580
Semilobar Holoprosencephaly
Hydrocephalus, Apathy, Anxiety, Neural tube defect, Irritability ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Apathy, Anxiety, Neural tube defect, Irritability ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Apathy, Anxiety, Neural tube defect, Irritability ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Apathy, Anxiety, Neural tube defect, Irritability ORPHA:93924
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Koolen-De Vries Syndrome Due To A Point Mutation
Anxiety, Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Anxiety, Hydrocephalus, Spina bifida, Ventriculomegaly ORPHA:363958
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Hajdu-Cheney Syndrome
Hydrocephalus, Splenomegaly ORPHA:955
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Cockayne Syndrome A
Dementia, Normal pressure hydrocephalus, Ventriculomegaly, Splenomegaly OMIM:216400
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis OMIM:162200
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Hydrocephalus ORPHA:54595
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Osteogenesis Imperfecta
Hydrocephalus, Thrombocytopenia, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Neurofibromatosis Type 1
Hydrocephalus, Chronic myelogenous leukemia, Leukemia, Memory impairment ORPHA:636
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Encephalocele, Spina bifida ORPHA:2369
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus ORPHA:95699
Tuberous Sclerosis Complex
Subependymal nodules, Self-injurious behavior, Anxiety, Noncommunicating hydrocephalus, Aggressiv... ORPHA:805
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Hydrocephalus ORPHA:3042
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Polysplenia, Asplenia OMIM:306955
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Campomelic Dysplasia
Spinal dysraphism, Hydrocephalus, Spina bifida OMIM:114290
Pseudoaminopterin Syndrome
Hydrocephalus, Asplenia ORPHA:221120
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Leukocytosis OMIM:619321
Tetraamelia Syndrome 1
Hydrocephalus, Asplenia OMIM:273395
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly OMIM:610829
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Anxiety, Communicating hydrocephalus, Aggressive behavior, Mild fetal ve... OMIM:619841
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Facial Dysmorphism With Multiple Malformations
Hydrocephalus OMIM:227255
Microphthalmia With Limb Anomalies
Hydrocephalus, Arrhinencephaly ORPHA:1106
Cockayne Syndrome B
Normal pressure hydrocephalus, Splenomegaly OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Encephalocele OMIM:219000
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Aggressive behavior, Self-mutilation OMIM:607872
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Hydrocephalus, Dandy-Walker malformation OMIM:264090
Wolf-Hirschhorn Syndrome
Hydrocephalus, Accessory spleen, Ventriculomegaly OMIM:194190
Hydrolethalus Syndrome 1
Accessory spleen, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Dandy-Walker malformation OMIM:236680
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:305600
Kabuki Syndrome 1
Hemolytic anemia, Hydrocephalus, Autoimmune thrombocytopenia OMIM:147920
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Yunis-Varon Syndrome
Hydrocephalus, Arrhinencephaly ORPHA:3472
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation ORPHA:3310
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele ORPHA:573278
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus OMIM:175780
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Splenomegaly OMIM:619534
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Polysplenia, Splenomegaly OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Accessory spleen, Frontal encephalocele OMIM:268300
Craniofacial Microsomia
Hydrocephalus, Occipital encephalocele OMIM:164210


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
Syt9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Syt9em1(IMPC)Tcp Exon Deletion Mice
Syt9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syt9tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syt9tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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