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Gene: Scube1 MGI:1890616

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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
female infertility Scube1em1(IMPC)Rbrc HOM Early adult 0.00
abnormal brain morphology Scube1em1(IMPC)Rbrc HOM Early adult 0.00
male infertility Scube1em1(IMPC)Rbrc HOM Early adult 0.00
hydrocephaly 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

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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 adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... 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
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... 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
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Spermatogenic Failure 17
Male infertility OMIM:617214
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... 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, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Impaired ADP-induced plat... OMIM:155100
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... 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
Abnormality of the menstrual cycle, Female infertility 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, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility 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
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Abnor... OMIM:601399
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... OMIM:614074
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus 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
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Essential Thrombocythemia
Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormal platelet morpho... ORPHA:3318
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... 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
Ventriculomegaly, Hydrocephalus OMIM:618709
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... ORPHA:903
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Acrania, Chiari malformation, Micrognathia OMIM:618820
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Thrombocytopenia, Intracranial hemorrhage, ... ORPHA:3226
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI OMIM:614464
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Kleeblattschaedel
Hydrocephalus OMIM:148800
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Isolated Exencephaly
Abnormal calvaria morphology, Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the cerebellu... ORPHA:563612
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Klippel-Trénaunay Syndrome
Internal hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding time ORPHA:90308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... OMIM:203300
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Sitosterolemia 1
Giant platelets, Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time 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
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Abnormal bleeding, Impaire... ORPHA:79329
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus 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, Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Hypopl... ORPHA:370959
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... ORPHA:906
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... ORPHA:324636
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Female infertility, Hydrocephalus, Male infertility ORPHA:244
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased specific anti-polysacchar... OMIM:301000
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Hydrocephalus OMIM:304100
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... ORPHA:49566
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Amenorrhea, Hydrocephalus, Oligozoos... ORPHA:91348
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus 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
Ventriculomegaly, Hydrocephalus 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
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Gonadotrop... OMIM:615465
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Exencephaly, Flat occiput ORPHA:2211
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligozoospermia, Male infertility ORPHA:8
Classic Galactosemia
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficien... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Frontofacionasal Dysplasia
Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone OMIM:229400
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus 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
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... ORPHA:99147
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Alg3-Cdg
Neural tube defect, Hypoplasia of the pons, Dandy-Walker malformation ORPHA:79321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility 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
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cranium bifidum occultum, Hypoplasia of the frontal bone ORPHA:306542
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly ORPHA:1908
Coach Syndrome 2
Hydrocephalus OMIM:619111
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, 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
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus 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
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea ORPHA:91
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:616362
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
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
Ventriculomegaly, Hydrocephalus OMIM:615630
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Emanuel Syndrome
Ventriculomegaly, Hypogonadism, Hydrocephalus, Infertility, Dandy-Walker malformation ORPHA:96170
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Relapsing Fever
Epistaxis, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time ORPHA:91547
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
Hematochezia, Prolonged prothrombin time OMIM:214950
Fanconi Anemia, Complementation Group B
Hypogonadism, Ventriculomegaly, Hydrocephalus, Hypergonadotropic hypogonadism OMIM:300514
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility OMIM:244400
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Arachnoiditis
Hydrocephalus ORPHA:137817
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
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
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Thrombocyto... ORPHA:2968
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:620156
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time 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
Ventriculomegaly, Hydrocephalus OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Bresek Syndrome
Hydrocephalus ORPHA:85284
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hypogonadism, Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time 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
Ventriculomegaly, Hydrocephalus OMIM:614576
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Emanuel Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:609029
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus OMIM:272200
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation OMIM:614424
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Muenke Syndrome
Hydrocephalus ORPHA:53271
Isolated Posterior Meningocele
Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neu... ORPHA:268810
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... ORPHA:572333
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Hydrolethalus
Anencephaly, Hydrocephalus ORPHA:2189
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time 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
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Hydrocephalus OMIM:616482
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617822
Schinzel-Giedion Syndrome
Retrognathia, Delayed eruption of teeth, Umbilical hernia, Micrognathia, Chiari type I malformati... ORPHA:798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Whipple Disease
Erectile dysfunction, Hydrocephalus ORPHA:3452
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Hypoplasminogenemia
Dandy-Walker malformation, Hydrocephalus, Cervicitis ORPHA:722
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
Ventriculomegaly, Hydrocephalus ORPHA:59315
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hydrocephalus OMIM:614969
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
H Syndrome
Hypogonadism, Amenorrhea, Azoospermia, Hydrocephalus ORPHA:168569
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus 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
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Peho Syndrome
Ventriculomegaly, Hydrocephalus