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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
hydrocephaly 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

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
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
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 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
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
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Spermatogenic Failure 17
Male infertility OMIM:617214
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
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
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... OMIM:601399
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... OMIM:153670
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul... OMIM:314050
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... ORPHA:238459
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... 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
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immunodeficiency 81
Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu... OMIM:619374
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
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
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Chiari malformation, Acrania, Micrognathia OMIM:618820
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bone marrow hypocellularity, Bruising susceptib... ORPHA:3226
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Isolated Exencephaly
Anterior pituitary hypoplasia, Abnormal calvaria morphology, Holoprosencephaly, Posterior pituita... ORPHA:563612
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250994
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... OMIM:603585
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Fried Syndrome
Hydrocephalus ORPHA:85335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Mgat2-Cdg
Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ... ORPHA:79329
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... ORPHA:370959
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Thrombocyto... ORPHA:906
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly ORPHA:244
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural... OMIM:301000
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Gingival bleeding, Bruising s... ORPHA:335
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
47,Xyy Syndrome
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:175700
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hartsfield Syndrome
Craniosynostosis, Alobar holoprosencephaly, Gonadotropin deficiency, Lobar holoprosencephaly, Hyp... OMIM:615465
Frontofacionasal Dysplasia
Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion OMIM:229400
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly ORPHA:2211
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:171839
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation ORPHA:79321
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... ORPHA:99147
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cranium bifidum occultum, Hypoplasia of the frontal bone ORPHA:306542
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Coach Syndrome 2
Hydrocephalus OMIM:619111
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Nephronophthisis 18
Hydrocephalus OMIM:615862
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Dandy-Walker malforma... ORPHA:96170
Hemangioblastoma
Hydrocephalus ORPHA:252054
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism ORPHA:1926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
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
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Relapsing Fever
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Thrombocytopenia ORPHA:91547
Arachnoiditis
Hydrocephalus ORPHA:137817
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Crouzon Syndrome
Hydrocephalus ORPHA:207
Chédiak-Higashi Syndrome
Abnormal bleeding, Epistaxis, Increased proportion of CD25+ mast cells, Gingival bleeding, Abnorm... ORPHA:167
Leukocyte Adhesion Deficiency
Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne... ORPHA:2968
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Fanconi Anemia, Complementation Group B
Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly OMIM:300514
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Emanuel Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:609029
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Hepatoportal Sclerosis
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:64743
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Trisomy 1Q
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:261344
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Hypogonadism, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly OMIM:614576
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:614969
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Muenke Syndrome
Hydrocephalus ORPHA:53271
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly ORPHA:2169
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Frontal bossing, Aganglionic megacolon, Micrognathia, Wide anterior fo... ORPHA:798
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:2409
3C Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1812
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Irregular menstruation OMIM:616482
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus OMIM:619951
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Sialuria
Prolonged prothrombin time ORPHA:3166
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Mirage Syndrome
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Decreased testicular size OMIM:617053
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:93932
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:264480
Whipple Disease
Hydrocephalus, Erectile dysfunction ORPHA:3452
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
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
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:613001
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Decreased testicular size, Amenorrhea ORPHA:168569
Distal Triplication 15Q
Hydrocele testis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3301
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation OMIM:101800
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Trisomy 17P
Hydrocephalus ORPHA:261290
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
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
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1555
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia OMIM:616271
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Abnormal brainst... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Abnormal brainst... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Abnormal brainst... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Proboscis, Hydrocephalus, Abnormal brainst... ORPHA:220386
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:257300
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Achondroplasia
Hydrocephalus ORPHA:15
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, D... OMIM:236670
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Hellp Syndrome
Thrombocytopenia, Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Crouzon Syndrome
Hydrocephalus OMIM:123500
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Thrombocytopenia OMIM:267700
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgA level OMIM:212750
Desmosterolosis
Hydrocephalus, Ventriculomegaly ORPHA:35107
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, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus OMIM:620351
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus ORPHA:1600
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Kasabach-Merritt Syndrome
Thrombocytopenia, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia OMIM:617941
Apert Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:87
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:2166
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:616546
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... OMIM:212065
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus ORPHA:250989
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus ORPHA:1340
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Hypoglyc... ORPHA:228123
Holoprosencephaly
Encephalocele, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Holoprosencephaly, Dandy-Walker ... ORPHA:2162
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly OMIM:123790
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Apert Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hurler Syndrome
Hydrocephalus OMIM:607014
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Chordee, Colpocephaly OMIM:309801
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:147791
Fanconi Anemia
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in males, Hypogonad... ORPHA:84
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:96121
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus OMIM:305450
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus OMIM:619512
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Desmosterolosis
Hydrocephalus, Ventriculomegaly OMIM:602398
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Decreased fertility, Primary amenorrhea, Oligozoospermia ORPHA:95699
Dubowitz Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta ORPHA:235
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly ORPHA:228308
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99413
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:602535
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:881
Alexander Disease
Aqueductal stenosis, Hydrocephalus ORPHA:58
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:620305
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Achondroplasia
Hydrocephalus OMIM:100800
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus ORPHA:90652
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism OMIM:227646
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Mohr Syndrome
Hydrocephalus OMIM:252100
Dextrocardia
Hydrocephalus ORPHA:1666
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus ORPHA:157
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly ORPHA:2462
Medulloblastoma
Hydrocephalus ORPHA:616
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly ORPHA:77301
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... OMIM:249000
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Hurler Syndrome
Hydrocephalus ORPHA:93473
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Meningioma
Impotence, Hypogonadotropic hypogonadism, Hydrocephalus, Amenorrhea ORPHA:2495
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Mend Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:2322
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Trisomy 8P
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Stromme Syndrome
Hydrocephalus OMIM:243605
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Raine Syndrome
Hydrocephalus OMIM:259775
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:363958
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus ORPHA:163979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:2658
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Normal pressure hydrocephalus, Hypogonadism, Ventriculome... OMIM:216400
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Tyrosinemia, Type I
Melena, Prolonged prothrombin time, Gastrointestinal hemorrhage OMIM:276700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:457284
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating... ORPHA:247598
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus ORPHA:79282
22Q11.2 Deletion Syndrome
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele ORPHA:567
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:270400
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus OMIM:311200
Marburg Hemorrhagic Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Thrombocytopenia, Subconjunctival hem... ORPHA:99826
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Yellow Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Increased circulating Ig... ORPHA:99829
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Dandy-Walker malformation ORPHA:3310
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly OMIM:619475
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus ORPHA:1106
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Ventriculomegaly ORPHA:2072
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
Marden-Walker Syndrome
Hydrocephalus ORPHA:2461
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Histiocytoid Cardiomyopathy
Hydrocephalus ORPHA:137675
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:219000
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Colpocephaly OMIM:210710
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormal testis morphology ORPHA:2556
Fontaine Progeroid Syndrome
Cryptorchidism, Hydrocephalus OMIM:612289
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Cockayne Syndrome B
Cryptorchidism, Normal pressure hydrocephalus OMIM:133540
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cryptorchidism, Chordee, Mild fetal ventriculomegaly OMIM:619841
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus ORPHA:636
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:194190
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:264090
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:305600
Costello Syndrome
Hydrocephalus, Ventriculomegaly OMIM:218040
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Yunis-Varon Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3472
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma, Thrombocytopenia OMIM:619525
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Kabuki Syndrome 1
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:3455
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta OMIM:218600
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydrocephalus, Spina bifida OMIM:304120
Peters-Plus Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:261540
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Coffin-Siris Syndrome 12
Cryptorchidism, Noncommunicating hydrocephalus OMIM:619325
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:107480
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus OMIM:312870
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation OMIM:619534
Hydrolethalus Syndrome 1
Dandy-Walker malformation, Anencephaly, Severe hydrocephalus OMIM:236680
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus 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

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