banner
Genes Phenotypes Help, News, Blog

Gene: Scube1 MGI:1890616

Log in to follow

Gene Summary

Name:
signal peptide, CUB domain, EGF-like 1
Synonyms:
A630023E24Rik,  7330410C13Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Scube1em1(IMPC)Rbrc HOM Early adult 0.00
abnormal brain morphology Scube1em1(IMPC)Rbrc HOM Early adult 0.00
hydrocephaly Scube1em1(IMPC)Rbrc HOM Early adult 0.00
female infertility Scube1em1(IMPC)Rbrc HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Gross Pathology and Tissue Collection

Images

14 Images

View images

Human diseases caused by Scube1 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 Scube1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Spermatogenic Failure 17
Male infertility OMIM:617214
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Petechi... OMIM:187800
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired A... OMIM:155100
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Abnormal dense granule content, Impaired platelet aggregation, Petechiae, Abnormal plate... OMIM:601399
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Increased mean platelet ... OMIM:153670
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopenia, Epi... OMIM:314050
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Menorrhagia, B... ORPHA:182050
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immunodeficiency 81
Petechiae, Reduced antigen-specific T cell proliferation, Impaired collagen-induced platelet aggr... OMIM:619374
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Essential Thrombocythemia
Abnormal bleeding, Thrombocytosis, Abnormal platelet morphology, Bruising susceptibility, Prolong... ORPHA:3318
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Acrania, Micrognathia, Holoprosencephaly OMIM:618820
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Bruising susceptibility, Intracranial hemorrhage, ... ORPHA:3226
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Kleeblattschaedel
Hydrocephalus OMIM:148800
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Isolated Exencephaly
Abnormal calvaria morphology, Anterior pituitary hypoplasia, Hypoplasia of the frontal bone, Holo... ORPHA:563612
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Sitosterolemia 1
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:210250
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla... OMIM:608233
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Thrombocytopenia, Macrothrombocytope... OMIM:603585
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Fried Syndrome
Hydrocephalus ORPHA:85335
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Abnormal bleeding, Decreased circ... ORPHA:79329
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplasia, A... ORPHA:370959
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Abnormal platelet function, Gingival blee... ORPHA:906
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint... ORPHA:324636
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Primary Ciliary Dyskinesia
Male infertility, Hydrocephalus, Abnormal sperm motility, Female infertility, Ventriculomegaly ORPHA:244
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Mixed Connective Tissue Disease
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura ORPHA:809
Wiskott-Aldrich Syndrome
Hematemesis, Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensiti... OMIM:301000
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Functioning Gonadotropic Adenoma
Hydrocephalus, Infertility, Oligozoospermia, Impotence, Abnormality of the menstrual cycle, Ameno... ORPHA:91348
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hypoplasia of the frontal bone, Gonadotrop... OMIM:615465
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Exencephaly, Encephalocele, Brachycephaly ORPHA:2211
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
47,Xyy Syndrome
Hydrocephalus, Male infertility, Oligozoospermia, Azoospermia ORPHA:8
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Frontofacionasal Dysplasia
Brachycephaly, Cranium bifidum occultum, Hypoplasia of the frontal bone OMIM:229400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Menorrhagia, Joint hemorrhage, E... ORPHA:99147
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Alg3-Cdg
Hypoplasia of the pons, Dandy-Walker malformation, Neural tube defect ORPHA:79321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cranium bifidum occultum, Hypoplasia of the frontal bone ORPHA:306542
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Coach Syndrome 2
Hydrocephalus OMIM:619111
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Nephronophthisis 18
Hydrocephalus OMIM:615862
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Temple Syndrome
Hydrocephalus ORPHA:254516
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly OMIM:218350
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hemangioblastoma
Hydrocephalus ORPHA:252054
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Infertility, Hypogonadism, Ventriculomegaly ORPHA:96170
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia, Epistaxis ORPHA:91547
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia OMIM:214950
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventriculomegaly, Hypogonadism, Hypergonadotropic hypogonadism OMIM:300514
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Arachnoiditis
Hydrocephalus ORPHA:137817
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Crouzon Syndrome
Hydrocephalus ORPHA:207
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Temple Syndrome
Hydrocephalus OMIM:616222
Chédiak-Higashi Syndrome
Abnormal bleeding, Increased proportion of CD25+ mast cells, Abnormal platelet function, Gingival... ORPHA:167
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Leukocyte Adhesion Deficiency
Abnormal bleeding, Impaired platelet aggregation, Abnormality of neutrophil physiology, Bone marr... ORPHA:2968
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia, Abnormal bleeding ORPHA:64743
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Triploidy
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Bresek Syndrome
Hydrocephalus ORPHA:85284
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle, Hypogonadism ORPHA:500055
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Muenke Syndrome
Hydrocephalus ORPHA:53271
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Chia... ORPHA:268810
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia ORPHA:99901
Sialuria
Prolonged prothrombin time ORPHA:3166
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Irregular menstruation OMIM:616482
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Schinzel-Giedion Syndrome
Retrognathia, Aganglionic megacolon, Neural tube defect, Chiari type I malformation, Delayed erup... ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Trisomy 1Q
Hydrocephalus, Ventriculomegaly ORPHA:261344
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation, Cervicitis ORPHA:722
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hematochezia OMIM:613812
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Hematochezia ORPHA:96168
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
H Syndrome
Hydrocephalus, Amenorrhea, Hypogonadism, Azoospermia ORPHA:168569
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Mirage Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:617053
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Trisomy 17P
Hydrocephalus ORPHA:261290
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Noonan Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function ORPHA:648
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia OMIM:616271
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Irregular menstruation, Hypogonadism OMIM:101800
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Fg Syndrome Type 1
Hydrocephalus, Ventriculomegaly ORPHA:93932
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Proboscis, Hydrocephal... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Proboscis, Hydrocephal... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Proboscis, Hydrocephal... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Proboscis, Hydrocephal... ORPHA:220386
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Encephalocele ORPHA:1865
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele ORPHA:220493
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Achondroplasia
Hydrocephalus ORPHA:15
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Hellp Syndrome
Prolonged prothrombin time, Thrombocytopenia, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Thrombocytopenia OMIM:267700
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Crouzon Syndrome
Hydrocephalus OMIM:123500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell activity OMIM:603553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:264480
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele OMIM:130720
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele ORPHA:1335
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Petechiae, Thrombocytopenia, Purpura ORPHA:2330
Alg12-Cdg
Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz... ORPHA:79324
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia OMIM:617941
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Decreased circulating IgG level, Thrombocytosis, Decreased circulatin... OMIM:212065
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Coccidioidomycosis
Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis, Increased CSF protein concentration... ORPHA:228123
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Ventriculomegaly, Occipital meningocele, Anencephaly OMIM:616546
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Craniopharyngioma
Hydrocephalus, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:54595
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Chordee, Colpocephaly OMIM:309801
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Gorlin Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Hurler Syndrome
Hydrocephalus OMIM:607014
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation OMIM:620371
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:881
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Anencephaly OMIM:269860
Monosomy 18Q
Hydrocephalus ORPHA:1600
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Alexander Disease
Hydrocephalus, Aqueductal stenosis ORPHA:58
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Thrombocytosis ORPHA:20
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Decreased fertility, Oligozoospermia, Primary amenorrhea ORPHA:95699
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Achondroplasia
Hydrocephalus OMIM:100800
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Spinal dysraphism ORPHA:2162
Otopalatodigital Syndrome Type 2
Hydrocephalus, Encephalocele, Myelomeningocele ORPHA:90652
Fanconi Anemia
Azoospermia, Hydrocephalus, Decreased fertility in males, Spina bifida, Hypogonadism, Ventriculom... ORPHA:84
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus OMIM:182212
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Dextrocardia
Hydrocephalus ORPHA:1666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Medulloblastoma
Hydrocephalus ORPHA:616
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Apert Syndrome
Hydrocephalus, Ventriculomegaly OMIM:101200
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
7Q11.23 Microduplication Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:96121
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Hurler Syndrome
Hydrocephalus ORPHA:93473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis OMIM:619512
Meningioma
Hydrocephalus, Amenorrhea, Hypogonadotropic hypogonadism, Impotence ORPHA:2495
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2166
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Marshall-Smith Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602535
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Opitz-Kaveggia Syndrome
Hydrocephalus OMIM:305450
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Communicating hydrocephalus OMIM:618188
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Raine Syndrome
Hydrocephalus OMIM:259775
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly OMIM:147791
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1272
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Stromme Syndrome
Hydrocephalus OMIM:243605
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy OMIM:253200
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Neurooculorenal Syndrome
Hydrocephalus, Ventriculomegaly, Aqueductal stenosis OMIM:620305
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Lobar holoprosencephaly ORPHA:564
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Cockayne Syndrome A
Ventriculomegaly, Normal pressure hydrocephalus, Irregular menstruation, Hypogonadism OMIM:216400
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Dilated fourth ve... OMIM:249000
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Hypogonadism ORPHA:2658
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating antibody level, Ab... ORPHA:247598
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele OMIM:311200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
Abetalipoproteinemia
Prolonged prothrombin time, Abnormal bleeding ORPHA:14
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Petechiae, I... ORPHA:99826
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:363958
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Yellow Fever
Prolonged prothrombin time, Hematemesis, Abnormal bleeding, Internal hemorrhage, Increased circul... ORPHA:99829
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis OMIM:154400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Ventriculomegaly, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:619475
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Azoospermia ORPHA:2072
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Exstrophy-Epispadias Complex
Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction, Spina bifida ORPHA:322
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation, Infertility, Oligozoospermia ORPHA:3310
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Myelomeningocele OMIM:306955
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Int... ORPHA:90062
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Colpocephaly OMIM:270400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus ORPHA:163979
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Hypogonadism ORPHA:3042
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida ORPHA:567
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Hydrocephalus OMIM:619321
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Spina bifida OMIM:114290
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Noncommunicating hydrocephalus ORPHA:666
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hydrocephalus, Colpocephaly, Lateral ventricle dilatation OMIM:210710
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma, Thrombocytopenia OMIM:619525
Fraser Syndrome 1
Hydrocephalus, Encephalocele, Myelomeningocele OMIM:219000
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Chilton-Okur-Chung Neurodevelopmental Syndrome
Chordee, Mild fetal ventriculomegaly, Communicating hydrocephalus OMIM:619841
Fontaine Progeroid Syndrome
Hydrocephalus OMIM:612289
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Cockayne Syndrome B
Normal pressure hydrocephalus OMIM:133540
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:264090
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Acrofacial Dysostosis, Cincinnati Type
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Aqueductal stenosis OMIM:616462
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:3455
Peters Plus Syndrome
Hydrocephalus, Ventriculomegaly, Spina bifida occulta ORPHA:709
Yunis-Varon Syndrome
Hydrocephalus ORPHA:3472
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Neurofibromatosis Type 1
Hydrocephalus ORPHA:636
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Tuberous Sclerosis Complex
Subependymal nodules, Noncommunicating hydrocephalus ORPHA:805
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Lateral ventricle dilatation OMIM:619534
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Spina bifida OMIM:304120
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus OMIM:619325
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus OMIM:312870
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus OMIM:236680
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele OMIM:268300
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scube1

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 Scube1.

No publications found that use IMPC mice or data for Scube1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Scube1tm462884(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Scube1em1(IMPC)Rbrc Indel Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter