banner
Genes Phenotypes Help, News, Blog

Gene: Scube1 MGI:1890616

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

Images

14 Images

View images

Human diseases caused by Scube1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Scube1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
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, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Neonatal alloimmune thrombocytopenia, Gastroint... OMIM:173470
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Prolonged ble... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal bleeding, Abnormal platelet function ORPHA:231393
Sebastian syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Epistaxis OMIM:605249
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Giant plate... OMIM:155100
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Abnormal alpha granule content, Abnormal ... OMIM:601399
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Prolonged bleeding after surgery... OMIM:193400
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Petechiae, Bruising susceptibility OMIM:314050
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Thrombocytopenia, Giant platele... ORPHA:238459
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Menorrhagia, Giant platelets, Bruis... OMIM:153640
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Petechiae, Reduce... OMIM:619374
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Acrania, Dysplastic cor... OMIM:618820
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the calvaria, Holoprosencephaly, Posterior p... ORPHA:563612
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Essential Thrombocythemia
Abnormal thrombocyte morphology, Abnormal platelet morphology, Prolonged bleeding time ORPHA:3318
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Thrombocytopenia, Abnormal platelet morphology OMIM:300835
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:141333
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Gómez-López-Hernández Syndrome
Midface retrusion, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainst... ORPHA:1532
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility, Thrombocytopenia, Bone... ORPHA:3226
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Giant platelets OMIM:210250
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Kleeblattschaedel
Hydrocephalus OMIM:148800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Epistaxis, Bruising susceptibility, Gingival bleeding OMIM:203300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Klippel-Trénaunay Syndrome
Internal hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage ORPHA:90308
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus ORPHA:2183
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent plat... OMIM:608233
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrolethalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:614120
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal brainstem ... ORPHA:163961
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... ORPHA:370959
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Prolonged bleeding time, Increased circulating IgE level, Decreas... OMIM:600903
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Familial Male-Limited Precocious Puberty
Male infertility, Oligospermia ORPHA:3000
Fried Syndrome
Hydrocephalus ORPHA:85335
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib... OMIM:603585
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Large fontanelles, Flat occiput, Polymicrogyria, Abnormal cortical gyrat... ORPHA:2211
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:324416
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Hartsfield Syndrome
Craniosynostosis, Lobar holoprosencephaly, Microcephaly, Hypoplasia of the frontal bone, Agenesis... OMIM:615465
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Prolonged bleeding time, Increased circulating IgE level, Decreas... OMIM:301000
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Mixed Connective Tissue Disease
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura ORPHA:809
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus ORPHA:352682
Achondroplasia
Hydrocephalus OMIM:100800
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus OMIM:610333
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hematemesis, Hema... ORPHA:906
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Primary Ciliary Dyskinesia
Ventriculomegaly, Female infertility, Abnormal sperm motility, Male infertility, Hydrocephalus ORPHA:244
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Craniofacial Dyssynostosis
Hydrocephalus ORPHA:1516
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:1908
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Amenorrhea, Oligospermia, Impotence, Decreased f... ORPHA:91348
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing,... ORPHA:1926
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Gingival bleeding, Abnormal umbilical stump bleeding, Sub... ORPHA:335
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Prolonged prothr... ORPHA:49566
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Lissencephaly 5
Hydrocephalus OMIM:615191
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Temple Syndrome
Hydrocephalus OMIM:616222
Central Precocious Puberty
Hydrocephalus ORPHA:759
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
47,Xyy Syndrome
Male infertility, Azoospermia, Hydrocephalus, Oligospermia ORPHA:8
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Amenorrhea OMIM:110100
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Classic Galactosemia
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Male in... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Anencephaly OMIM:615287
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus ORPHA:272
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus OMIM:175700
Nephronophthisis 18
Hydrocephalus OMIM:615862
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Hydrocephalus ORPHA:93274
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:99147
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:300960
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220219
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Pallister-Hall-Like Syndrome
Hydrocephalus OMIM:241800
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Aqueductal stenosis, Meningocele, Polymicrog... ORPHA:1136
Coach Syndrome 2
Hydrocephalus OMIM:619111
Mental Retardation, Autosomal Dominant 36
Ventriculomegaly, Hydrocephalus OMIM:616362
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Male infertility, Primary amenorrhea ORPHA:91
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus ORPHA:171839
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Wormian bones, Wide anterior fontanel, Frontal bossing, Midface retrus... ORPHA:798
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Temple Syndrome
Hydrocephalus ORPHA:254516
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus OMIM:109120
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Abnormal bleeding, Thrombocytosis, Impaired neutrophil chemotaxis,... ORPHA:2968
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Lipoma of corpus callosum, Agenesis of corpus callosum, Hypoplasi... ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Emanuel Syndrome
Infertility, Ventriculomegaly, Hypogonadism, Hydrocephalus, Dandy-Walker malformation ORPHA:96170
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Frontofacionasal Dysplasia
Midface retrusion, Hypoplasia of the frontal bone, Brachycephaly OMIM:229400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Hemangioblastoma
Hydrocephalus ORPHA:252054
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Arachnoiditis
Hydrocephalus ORPHA:137817
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Crouzon Disease
Hydrocephalus ORPHA:207
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormal bleeding, Epistaxis, Thrombocytopenia, Abnorma... ORPHA:167
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Hydrocephalus, Hypogonadism OMIM:300514
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Hydrocephalus, Anencephaly OMIM:611134
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal hypothalamus physiology, Neural tube de... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93924
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus OMIM:618476
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Hydrolethalus
Arrhinencephaly, Hydrocephalus, Anencephaly ORPHA:2189
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus OMIM:615219
Bresek Syndrome
Hydrocephalus ORPHA:85284
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Muenke Syndrome
Hydrocephalus ORPHA:53271
Relapsing Fever
Thrombocytopenia, Abnormal bleeding, Epistaxis, Prolonged prothrombin time ORPHA:91547
Myopathy, Centronuclear, X-Linked
Hydrocephalus OMIM:310400
Triploidy
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:1647
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
16P13.2 Microdeletion Syndrome
Hypogonadism, Dilated third ventricle, Ventriculomegaly, Hydrocephalus ORPHA:500055
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
3C Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:7
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Streak ovary, Female infertility, Secondary ameno... ORPHA:572333
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callos... ORPHA:2162
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hydrocephalus ORPHA:2169
Iniencephaly
Mandibular aplasia, Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Dandy-Walker... ORPHA:63259
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Whipple Disease
Erectile dysfunction, Hydrocephalus ORPHA:3452
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Arnold-Chiari malformation, Lipomyelomeni... ORPHA:268810
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Dyssegmental Dysplasia, Silverman-Handmaker Type
Spontaneous abortion, Hydrocephalus ORPHA:1865
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus OMIM:603387
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation OMIM:612938
Griscelli Syndrome
Hydrocephalus ORPHA:381
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal hypothalamus morphology, Abnormal midbrain morp... ORPHA:68
Trisomy 1Q
Ventriculomegaly, Hydrocephalus ORPHA:261344
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus OMIM:617822
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Pycnodysostosis
Hydrocephalus ORPHA:763
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:459061
H Syndrome
Hypogonadism, Azoospermia, Hydrocephalus, Amenorrhea ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus ORPHA:59315
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Peho Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:2836
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hypogonadism, Hydrocephalus OMIM:101800
Walker-Warburg Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:899
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Sialuria
Prolonged prothrombin time ORPHA:3166
Monosomy 13Q34
Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Lowry-Maclean Syndrome
Hydrocephalus ORPHA:2409
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Mirage Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus OMIM:617053
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Endocrine-Cerebroosteodysplasia
Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:612651
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Cranial hyperostosis, Spinal dysraphism OMIM:612918
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus OMIM:259720
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Popov-Chang syndrome
Hydrocephalus OMIM:618428
Joubert Syndrome With Oculorenal Defect
Hydrocephalus ORPHA:2318
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:1812
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Joubert Syndrome With Renal Defect
Hydrocephalus ORPHA:220497
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Azoospermia, Primary amenorrhea ORPHA:90797
Joubert Syndrome
Hydrocephalus ORPHA:475
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Fg Syndrome Type 1
Ventriculomegaly, Hydrocephalus ORPHA:93932
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Spinal dysraphism OMIM:617660
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Trisomy 17P
Hydrocephalus ORPHA:261290
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Hydrocephalus OMIM:123790
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Chordee OMIM:309801
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Primary amenorrhea, Decreased fertility, Male infertility ORPHA:90793
Hyperphosphatasia With Mental Retardation Syndrome 1
Hydrocephalus OMIM:239300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Asymmetric ventricles OMIM:616914
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Prolonged prothrombin time OMIM:617941
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Prolonged prothrombin time, Decreased circulatin... OMIM:212065
Hellp Syndrome
Thrombocytopenia, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Adams-Oliver Syndrome
Hydrocephalus ORPHA:974
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Achondroplasia
Hydrocephalus ORPHA:15
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Joubert Syndrome With Ocular Defect
Hydrocephalus ORPHA:220493
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Hydrocephalus OMIM:264480
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation OMIM:613001
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus ORPHA:395
Craniopharyngioma
Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:54595
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus OMIM:224400
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Apert Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:87
Coccidioidomycosis
CSF lymphocytic pleiocytosis, Abnormal sperm morphology, Increased CSF protein, CSF pleocytosis, ... ORPHA:228123
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Decreased circulating IgA level, Prolonged prothrombin time OMIM:212750
Tetrasomy 5P
Hydrocephalus ORPHA:3309
Desmosterolosis
Ventriculomegaly, Hydrocephalus ORPHA:35107
Distal Tetrasomy 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Wide anterior fontanel, Frontal bossing, Mandibular prognathia, Spinal dysraphism,... ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Hurler Syndrome
Hydrocephalus OMIM:607014
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly ORPHA:1335
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dilation of lateral ventricles, Normal pressure hydrocephalus ORPHA:300570
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Hemophagocytic Lymphohistiocytosis, Familial, 1
Thrombocytopenia, Prolonged prothrombin time OMIM:267700
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus ORPHA:25
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Hydrocephalus OMIM:253800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Hemophagocytic Lymphohistiocytosis, Familial, 2
Thrombocytopenia, Prolonged prothrombin time, Reduced natural killer cell activity OMIM:603553
Campomelic Dysplasia
Hydrocephalus OMIM:114290
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:91350
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hydrocephalus OMIM:613150
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Cardiofaciocutaneous Syndrome 1
Hydrocephalus OMIM:115150
Mucopolysaccharidosis, Type Vi
Hydrocephalus OMIM:253200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly OMIM:616546
Apert Syndrome
Ventriculomegaly, Hydrocephalus OMIM:101200
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:96121
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea ORPHA:99413
Turner Syndrome
Female infertility, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea ORPHA:881
Mosaic Monosomy X
Female infertility, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea ORPHA:99228
Monosomy X
Female infertility, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea ORPHA:99226
Fanconi Anemia
Spina bifida, Azoospermia, Ventriculomegaly, Decreased fertility in males, Hypogonadism, Hydrocep... ORPHA:84
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hydrocephalus ORPHA:228308
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Dextrocardia
Hydrocephalus ORPHA:1666
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus ORPHA:90652
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:257300
Raine Syndrome
Hydrocephalus OMIM:259775
Mohr Syndrome