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