Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
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 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Absent inner dynein arms, Situs inversus totalis, Recurrent pne... |
OMIM:613807 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Abnormal lung lobation, Abnormality of abdominal situs, Ab... |
ORPHA:1666 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Bronchiectasis, Abd... |
OMIM:618699 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Acalvaria |
|
Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Renpenning Syndrome |
|
Heterotaxy, Decreased testicular size |
ORPHA:3242 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Absent outer dynein arms, Azoospermia, Left Isomerism |
OMIM:618300 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Isomerism, Hydrocephalus, Pulmonary hypoplasia |
OMIM:314390 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ... |
OMIM:614874 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Partial Atrioventricular Septal Defect |
|
Heterotaxy, Recurrent respiratory infections, Anomalous pulmonary venous return |
ORPHA:1330 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:250994 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Heterotaxy, Pulmonary artery hypoplasia, Total anomalous pulmonary venous... |
OMIM:616749 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism... |
ORPHA:1908 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Heterotaxy |
ORPHA:3426 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Absent outer dynein ... |
OMIM:244400 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:2635 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1516 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia |
OMIM:241800 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus |
ORPHA:2183 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Diets-Jongmans Syndrome |
|
Heterotaxy, Umbilical hernia, Cryptorchidism |
OMIM:618846 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Pulmonary hypoplasia, Ventriculomegaly |
ORPHA:2655 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:380 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus |
ORPHA:475 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia, Ventriculomegaly |
OMIM:175700 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... |
ORPHA:79239 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Abnormal axonemal ... |
OMIM:613808 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
Bresek Syndrome |
|
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
ORPHA:171839 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Isomerism, Partial anomalous pulmonary venous return, Anomalous pulmonary venous return |
OMIM:619657 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Abnormality of the pulmonary artery, Spinal dysraphism |
ORPHA:1926 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2701 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta |
ORPHA:2437 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Temple Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
OMIM:616222 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Hydrocephalus, Abnormal lung lobation |
ORPHA:3301 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return |
ORPHA:2184 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinu... |
OMIM:609029 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
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 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Abnormal lung lobation, Ventriculomegaly |
OMIM:300514 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617822 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:1865 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Abnormal lung lobation |
OMIM:617667 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventr... |
ORPHA:96170 |
3C Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:1834 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3309 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
ORPHA:1335 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Umbilical hernia, Hydrocephalus |
ORPHA:93400 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus |
ORPHA:2969 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Pulmonary hypoplasia, Dandy-Walker malformation |
ORPHA:314588 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Tenorio Syndrome |
|
Hydrocephalus, Recurrent pneumonia, Ventriculomegaly |
OMIM:616260 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Peho Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia, Dandy-Walker malformation |
OMIM:612938 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3412 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Umbilical hernia |
ORPHA:2268 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Hydrocephalus, Anencephaly, Holoprosencephaly, Pulmonary hypoplasia, Neonatal death |
OMIM:269860 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Trisomy 1Q |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona... |
ORPHA:99125 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
47,Xyy Syndrome |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Encephalocele, Hydrocephalus |
ORPHA:974 |
Meckel Syndrome |
|
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... |
ORPHA:564 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Right atrial isomerism, Aqueductal stenosis, Myelomeningocele, Hydroceph... |
OMIM:306955 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
Pontocerebellar Hypoplasia, Type 7 |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Umbilica... |
ORPHA:2166 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Mirage Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size, Aspiration pneumonia |
OMIM:617053 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:2409 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Whipple Disease |
|
Hydrocephalus, Pleuritis |
ORPHA:3452 |
Fg Syndrome Type 1 |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia, Ventriculomegaly |
ORPHA:93932 |
Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Hydrocephalus, Recurrent pneumonia |
OMIM:309900 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Hydrocephalus, Recurrent upper respiratory tract infections, Chronic bronchitis |
OMIM:253220 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus |
OMIM:616482 |
Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus |
OMIM:620351 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus |
OMIM:619951 |
Achondroplasia |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:100800 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220493 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia |
ORPHA:90652 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Umbilical hernia |
OMIM:607014 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:259775 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia |
ORPHA:91348 |
H Syndrome |
|
Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azoospermia, Decreased testicular size |
ORPHA:168569 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Meningocele, Umbilical hernia, Hydrocephalus |
OMIM:130720 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Hydrocephalus, Lateral ventricle dilatation, Dilated third vent... |
OMIM:619575 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Holoprosencephaly |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the lungs,... |
ORPHA:2162 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Hypogonadism, ... |
ORPHA:85450 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2075 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Situs inversus totalis, Partial anomalous pulmonary venous return, Pulmonary arte... |
OMIM:619702 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumothorax, Chylothorax, Emphysem... |
ORPHA:538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Medulloblastoma |
|
Neoplasm of the lung, Hydrocephalus |
ORPHA:616 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
ORPHA:1555 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Desmosterolosis |
|
Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly |
OMIM:602398 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Coccidioidomycosis |
|
Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Pleural empyema, Abnorma... |
ORPHA:228123 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Hydrocephalus |
ORPHA:2461 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Stillbirth, Ventriculomegaly |
OMIM:259720 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
Endocrine-Cerebroosteodysplasia |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Hydrocephalus, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory ... |
ORPHA:264450 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, Cervical myelopathy, Umbi... |
OMIM:253200 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Hydrocephalus |
ORPHA:579 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Hydrocephalus, Aspiration pneumo... |
ORPHA:581 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infect... |
OMIM:602535 |
Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cryptorchidism, D... |
OMIM:236670 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Holoprosencephaly, Cryptorchidism |
OMIM:147791 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Cryptococcosis |
|
Hydrocephalus, Pleural effusion, Pneumonia, Nodular pattern on pulmonary HRCT |
ORPHA:1546 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hydrocephalus |
ORPHA:93473 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation |
OMIM:612301 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth |
OMIM:243605 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:1600 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Abnormality of the pulmonary veins |
ORPHA:2306 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Cryptorchidi... |
OMIM:249000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:182212 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus |
OMIM:104350 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Stillbirth, Short umbilical cord, Pulmonary hypoplasia, Small plac... |
OMIM:208150 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Hydrocephalus |
OMIM:101800 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Hydrocephalus |
ORPHA:505248 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:305450 |
Monosomy 9Q22.3 |
|
Umbilical hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:96121 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Hydrocephalus, Pulmonary edema |
OMIM:261740 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Chylothorax |
ORPHA:137667 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:250989 |
Dubowitz Syndrome |
|
Cryptorchidism, Hydrocephalus, Spina bifida occulta |
ORPHA:235 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus |
OMIM:619512 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Atelectasis, Cryptorchidism, Meningocele, Abnormal lung lobation, Hydrocephalus, Oc... |
ORPHA:567 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly |
OMIM:618188 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia |
OMIM:273395 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Colpocephaly, Pulmonary hypoplasia, Holopr... |
OMIM:270400 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Testicular neoplasm, Spina bifida, Cryptorchidism, Hydrocephalu... |
ORPHA:363958 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Fontaine Progeroid Syndrome |
|
Cryptorchidism, Hydrocephalus, Pneumothorax, Pulmonary hypoplasia, Neonatal death, Umbilical hern... |
OMIM:612289 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Cryptorchidism, Hydrocephalus, Stillbirth, Oligozoospermia |
ORPHA:95699 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Umbilical hernia |
ORPHA:955 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Umbilical hernia, Ventriculomegaly |
ORPHA:2462 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus |
OMIM:618162 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Abnormal pulmonary interstitial morphology, Azoospermia, Pulmonary fibrosis, Ventr... |
ORPHA:2072 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Pulmonary edema |
ORPHA:137675 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:620305 |
Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Spinal dysraphism, Rec... |
OMIM:114290 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Umbilical hernia, Abnormal testis morph... |
ORPHA:84 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Gaucher Disease |
|
Hydrocephalus, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Ventriculomegaly |
ORPHA:355 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Umbilical hernia, Pneumonia |
ORPHA:309282 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Noncommunicating hydrocephalus, Pulmonary hypoplasia, Umbilical hernia, Ventriculo... |
ORPHA:666 |
Fraser Syndrome 1 |
|
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Pulmonary hypoplasia |
OMIM:219000 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Kabuki Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus |
OMIM:227646 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Abnormal lung lobation, Stillbirth, Severe hydrocephalus, Dandy-Walker malformation |
OMIM:236680 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus |
OMIM:311200 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Hydrocephalus |
ORPHA:667 |
Hajdu-Cheney Syndrome |
|
Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:102500 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Situs inversus totalis, Aqueductal... |
OMIM:619534 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:163979 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly |
OMIM:619475 |
Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Hydrocephalus, Cryptorchidism |
ORPHA:261337 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Tetrasomy 9P |
|
Cryptorchidism, Hydrocephalus, Oligozoospermia, Pulmonary hypoplasia, Umbilical hernia, Dandy-Wal... |
ORPHA:3310 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Aspiration pneumonia |
ORPHA:93924 |
Costello Syndrome |
|
Hydrocephalus, Pneumothorax, Ventriculomegaly |
OMIM:218040 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Stillbirth, Colpocephaly |
OMIM:210710 |
Holoprosencephaly 9 |
|
Cryptorchidism, Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2658 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Peters Plus Syndrome |
|
Cryptorchidism, Hydrocephalus, Spina bifida occulta, Abnormal pulmonary vein morphology, Umbilica... |
ORPHA:709 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Noncommunicating hydrocephalus, Subependymal nodules, Pulmonary lymp... |
ORPHA:805 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:221120 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus |
ORPHA:1106 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Hydrocephalus, Dandy-Walker malforma... |
OMIM:264090 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Hydrocephalus |
OMIM:609192 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Lateral ventricle dilatation |
OMIM:607872 |
Cockayne Syndrome A |
|
Cryptorchidism, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Umbilical hernia, Hydrocephalus, Spontaneous pneumothorax |
OMIM:610168 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Abnormal testis morphology |
ORPHA:2556 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Umbilical hernia, Recurrent upper respiratory tract infections |
ORPHA:580 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Kabuki Syndrome 1 |
|
Cryptorchidism, Hydrocephalus, Recurrent aspiration pneumonia, Lateral ventricle dilatation |
OMIM:147920 |
Oeis Complex |
|
Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Cockayne Syndrome B |
|
Cryptorchidism, Normal pressure hydrocephalus |
OMIM:133540 |
Focal Dermal Hypoplasia |
|
Cryptorchidism, Myelomeningocele, Hydrocephalus, Umbilical hernia, Spina bifida occulta |
OMIM:305600 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
Wolf-Hirschhorn Syndrome |
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Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia |
OMIM:304120 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Decreased testicular size |
OMIM:619321 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Total anomalous pulmonary venous return, U... |
OMIM:312870 |
Neurofibromatosis Type 1 |
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Cryptorchidism, Hydrocephalus |
ORPHA:636 |
Yunis-Varon Syndrome |
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Cryptorchidism, Hydrocephalus |
ORPHA:3472 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Cryptorchidism, Mild fetal ventriculomegaly |
OMIM:619841 |
Baller-Gerold Syndrome |
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Hydrocephalus, Spina bifida occulta |
OMIM:218600 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Wiedemann-Rautenstrauch Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:3455 |
Peters-Plus Syndrome |
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Umbilical hernia, Hydrocephalus, Ventriculomegaly, Cryptorchidism |
OMIM:261540 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Hydrocephalus |
ORPHA:363700 |
Exstrophy-Epispadias Complex |
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Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
Coffin-Siris Syndrome 12 |
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Cryptorchidism, Noncommunicating hydrocephalus |
OMIM:619325 |
Townes-Brocks Syndrome 1 |
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Cryptorchidism, Hydrocephalus, Umbilical hernia, Holoprosencephaly |
OMIM:107480 |
Roberts-Sc Phocomelia Syndrome |
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Cryptorchidism, Stillbirth, Frontal encephalocele, Hydrocephalus |
OMIM:268300 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Branchial anomaly, Hydrocephalus, Pulmonary hypoplasia |
OMIM:164210 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |