Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Immotile... |
OMIM:617091 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Ciliary Dyskinesia, Primary, 18 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Immotile sp... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male ... |
OMIM:612444 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Ciliary Dyskinesia, Primary, 32 |
|
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 13 |
|
Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine... |
OMIM:613193 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Ciliary Dyskinesia, Primary, 24 |
|
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615500 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Ciliary Dyskinesia, Primary, 25 |
|
Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612649 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Immotile sperm, Reduced sperm motility, Otitis media, Absent inner dynein arms, A... |
OMIM:613807 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Infertility, Decreased nasal nitric oxide, Ciliary dyskinesia |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Abnormal central microtubu... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia... |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... |
OMIM:618300 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phys... |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Abnormal ciliary m... |
OMIM:614017 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Young Syndrome |
|
Recurrent bronchitis, Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Male infertili... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Recurrent otitis media, Immotile sperm, Abnormal axonemal organization of respirator... |
OMIM:613808 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Abnormal respiratory motile cilium morphology, Chronic rhinitis, R... |
OMIM:242680 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615444 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, R... |
OMIM:615505 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary... |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... |
OMIM:618449 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Infertility, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, A... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Reduced spe... |
OMIM:608647 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory... |
OMIM:618063 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Young Syndrome |
|
Bronchiectasis, Azoospermia, Recurrent bronchitis |
OMIM:279000 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism |
ORPHA:3000 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasi... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic rhi... |
OMIM:615451 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent s... |
OMIM:615504 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic rhinitis, Male infertility, Chronic sinusitis, Ciliary dyskinesia, ... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... |
OMIM:616037 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Male infertility, Chronic sinusitis, Recurrent otitis media, Decreased nasal nitric oxide |
OMIM:619607 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Infertility, Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress |
OMIM:300991 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia |
OMIM:615703 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent pneumonia, Recurrent... |
OMIM:616726 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Reduced progressive sperm motility, Chronic sinusitis, Chronic otit... |
OMIM:619608 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Gliosis, Cerebellar... |
ORPHA:79243 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia |
OMIM:226990 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Gliosis, Central sleep apnea, Abnormal astrocyte morphology, Ventriculomegaly, Neonatal re... |
ORPHA:168486 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Pyelonephritis, Cryptorchidism, Oligospermia, Nephritis |
OMIM:314300 |
Fragile X Syndrome |
|
Sinusitis, Otitis media, Chronic otitis media, Mandibular prognathia, Macroorchidism |
ORPHA:908 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... |
ORPHA:70593 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Female infertility, Recurrent otitis media, Chronic otitis media, Wheezing, C... |
ORPHA:244 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
47,Xyy Syndrome |
|
Asthma, Malar flattening, Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Az... |
ORPHA:8 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Cleft Lip With Or Without Cleft Palate |
|
Chronic sinusitis, Recurrent otitis media |
ORPHA:1991 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia |
OMIM:229070 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Spermatogenic Failure 28 |
|
Azoospermia, Decreased testicular size |
OMIM:618086 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis |
OMIM:612692 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ventriculomegaly |
OMIM:612936 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614837 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infections, Re... |
ORPHA:277 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Bronchiectasis, Chronic sinusitis, Cough |
OMIM:617092 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... |
OMIM:307200 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arthritis, Azoospermia |
OMIM:602390 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sinusitis, Productive cou... |
OMIM:618699 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media |
OMIM:618948 |
Hemimegalencephaly |
|
Gliosis, Ventriculomegaly |
ORPHA:99802 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis |
OMIM:604571 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Scedosporiosis |
|
Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia, Arthralgia/arthritis, ... |
ORPHA:449280 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis, Respiratory failure |
OMIM:225753 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Aspergillosis |
|
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Chronic lung disease,... |
ORPHA:1163 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Ventriculomegaly |
OMIM:614946 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Apneic episodes in infancy, Dandy-Walker ... |
ORPHA:3078 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism |
OMIM:300200 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses |
ORPHA:306741 |
Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Gliosis, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:300215 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... |
OMIM:612885 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis |
OMIM:618369 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis, Respiratory failure requiring assisted ventilation, Recurrent aspiration p... |
ORPHA:204 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
Lead Poisoning |
|
Infertility, Asthma, Decreased male libido, Skin rash, Reduced sperm motility, Oligospermia, Abno... |
ORPHA:330015 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Cach Syndrome |
|
Lateral ventricle dilatation, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insuffi... |
ORPHA:135 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... |
ORPHA:91348 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Immunodeficiency 102 |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr... |
OMIM:301082 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Adducted Thumbs Syndrome |
|
Respiratory insufficiency, Myelin-dependent gliosis |
OMIM:201550 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency |
OMIM:603896 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arthritis, Hepatitis, Recurrent pneumo... |
ORPHA:47 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Asthma, Chronic gastritis, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atopic dermatitis, R... |
ORPHA:183675 |
Leigh Syndrome |
|
Gliosis, Increased CSF lactate, Respiratory insufficiency, Abnormal pattern of respiration, Respi... |
OMIM:256000 |
Yellow Nail Syndrome |
|
Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension |
ORPHA:662 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis... |
ORPHA:2552 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Chronic lung disease, Decre... |
OMIM:219700 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Increased CSF protein, Pneumonia |
OMIM:608033 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Felty Syndrome |
|
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo... |
ORPHA:47612 |
Whim Syndrome |
|
Sinusitis, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections, Severe peri... |
ORPHA:51636 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Rheumatic Fever |
|
Sinusitis, Respiratory insufficiency, Endocarditis, Myocarditis, Arthritis, Recurrent pharyngitis... |
ORPHA:3099 |
Congenital Hypothyroidism |
|
Sinusitis, Abnormality of reproductive system physiology, Hypogonadism |
ORPHA:442 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Colpocephaly, Dilated third ventricle, Chronic lung disease, Tachypnea, Lateral ventricle ... |
ORPHA:397715 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Choanal Atresia |
|
Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sin... |
ORPHA:137914 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Lateral ventricle dilatation |
ORPHA:178469 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Otitis media, Micrognathia, Recurrent bronchitis, Recurrent pneumonia, Bronchiectasis,... |
OMIM:251260 |
Huntington Disease |
|
Gliosis |
OMIM:143100 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... |
ORPHA:331235 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malar flattening, Micrognathia, Pneumonia, Bronchiectasis |
OMIM:242860 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis |
OMIM:149700 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Ataxia-Telangiectasia |
|
Sinusitis, Recurrent bronchitis, Abnormal spermatogenesis, Bronchiectasis, Female hypogonadism |
OMIM:208900 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
Cyclic Neutropenia |
|
Sinusitis, Periodontitis, Enterocolitis, Otitis media, Recurrent skin infections, Peritonitis, Ph... |
ORPHA:2686 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Gliosis |
OMIM:614498 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Agenesis of corpus callosum, Gliosis, Recurrent pneumonia, Ventriculomegaly |
OMIM:214150 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism |
ORPHA:141333 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism |
ORPHA:91351 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gliosis |
OMIM:213200 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis... |
ORPHA:36234 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent otitis media, Arthritis |
OMIM:300310 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Acne, Female ... |
ORPHA:786 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:488627 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Increased CSF lactate |
ORPHA:565624 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Wide anterior fontanel |
ORPHA:457279 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Gliosis, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy, Ventriculomegaly |
OMIM:618222 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Micrognathia |
OMIM:601076 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism |
OMIM:614897 |
Achondroplasia |
|
Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Huntington Disease-Like 1 |
|
Gliosis, Ventriculomegaly |
ORPHA:157941 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Ventriculomegaly |
OMIM:300957 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
OMIM:610333 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Normal pressure hydrocephalus |
ORPHA:300570 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Aspiration |
ORPHA:2148 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis |
OMIM:300857 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Respiratory insufficiency, Endocarditis, Myositis, Myocarditis, Cou... |
ORPHA:183 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Asthma, Dysplastic corpus callosum |
ORPHA:544488 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Gliosis, Increased CSF lactate, Tachypnea |
OMIM:220111 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lateral ventricle dilatation, Dilated fourth ventricle, Ventriculomegaly |
ORPHA:572798 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis |
OMIM:221820 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... |
OMIM:618204 |
Distal Monosomy 10Q |
|
Lateral ventricle dilatation, Spina bifida occulta |
ORPHA:96148 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... |
ORPHA:727 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F... |
ORPHA:228119 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Gapo Syndrome |
|
Amenorrhea, Dysmenorrhea, Micrognathia, Oligospermia, Delayed eruption of teeth, Hypogonadism, Ma... |
ORPHA:2067 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Bloom Syndrome |
|
Cheilitis, Chronic pulmonary obstruction, Malar flattening, Otitis media, Retrognathia, Micrognat... |
ORPHA:125 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... |
ORPHA:572 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... |
ORPHA:99429 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Increased CSF lactate, Agenesis of corpus callosum |
OMIM:616239 |
Granulomatosis With Polyangiitis |
|
Keratitis, Sinusitis, Respiratory insufficiency, Chronic otitis media, Cough, Uveitis, Rhinorrhea... |
OMIM:608710 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Recurrent pneumonia, Pulmonary arterial hy... |
ORPHA:464738 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis |
OMIM:604484 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Prostatitis, Pancreatitis, Chronic pulmonary obstruction, Skin rash, Otitis media, Res... |
ORPHA:900 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Hydrocephalus |
ORPHA:2183 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Blepharitis, Sinusitis, Conjunctivitis, Chronic pulmonary obstruction, Otitis media, E... |
ORPHA:906 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Tubulointerstitial nephritis, Male infertility, Hypogonadism, Abnormal testis morph... |
ORPHA:85450 |
Cleidocranial Dysplasia |
|
Sleep apnea, Sinusitis, Supernumerary tooth, Micrognathia, Delayed eruption of teeth, Chronic oti... |
ORPHA:1452 |
Spinocerebellar Ataxia 17 |
|
Gliosis |
OMIM:607136 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Episodic tachypnea, Apneic episodes in infancy, Ventriculomegaly, Dandy-Walker mal... |
ORPHA:163961 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... |
OMIM:400045 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Chronic Granulomatous Disease |
|
Sinusitis, Chronic pulmonary obstruction, Otitis media, Eczema, Inflammatory abnormality of the eye |
ORPHA:379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Wa... |
OMIM:613153 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Impotence, Autonomic erectile dysfunction |
OMIM:169500 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis |
OMIM:615095 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:304100 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea |
ORPHA:169105 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal pattern of respiration, Gliosis, Increased CSF protein |
ORPHA:88619 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Chronic otitis media, Recurrent upper respiratory tract infections |
ORPHA:583 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis |
OMIM:221770 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Progressive ventriculomegaly, Apnea, Gliosis |
OMIM:602613 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... |
OMIM:225790 |
Immunodeficiency 20 |
|
Recurrent sinusitis, Recurrent viral upper respiratory tract infections, Recurrent otitis media, ... |
OMIM:615707 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Pgm3-Cdg |
|
Asthma, Osteomyelitis, Recurrent skin infections, Eczema, Membranoproliferative glomerulonephriti... |
ORPHA:443811 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Wide anterior fontanel, Gliosis, Neonatal death |
OMIM:231680 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, Panniculitis |
OMIM:617591 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent pneumonia |
OMIM:613494 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis |
ORPHA:275872 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis, Ventriculomegaly, Tracheomalacia |
ORPHA:261652 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele, Glioma |
OMIM:241800 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Cough, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Inflammatory abn... |
ORPHA:238468 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Cholangitis, Abnormality of the spheno... |
ORPHA:449563 |
Machado-Joseph Disease |
|
Gliosis, Dilated fourth ventricle |
OMIM:109150 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy |
OMIM:619111 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media... |
OMIM:607594 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Lateral ventricle dilatation, Hypogonadotropic hypogonadism |
ORPHA:177907 |
Riddle Syndrome |
|
Otitis media, Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive... |
ORPHA:420741 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Gliosis, Episodic respiratory distress, Episodic hypoventilation |
OMIM:301790 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Gliosis, Restrictive ventilatory defect, Cardiorespiratory arrest, Dyspne... |
ORPHA:26791 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Otitis media |
OMIM:613179 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Sleep apnea, Hydrocephalus, Wide anterior fontanel, Central apnea, Pulmonary arterial hypertension |
OMIM:616482 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Zygomycosis |
|
Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, Peritonitis, Endo... |
ORPHA:73263 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Respiratory insufficiency, Ventriculomegaly, Encephalocele |
ORPHA:93274 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Central hypoventilation, Gliosis |
OMIM:118301 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosu... |
OMIM:615287 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation |
ORPHA:2822 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Urethritis, Interstit... |
ORPHA:449395 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gliosis |
ORPHA:457240 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Respiratory insufficiency, Gliosis, Ventriculomegaly |
OMIM:617193 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... |
OMIM:616576 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation |
OMIM:220220 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidi... |
OMIM:102700 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Inspiratory stridor, Spina bifida, Agenesis of corpus callosum, ... |
OMIM:207950 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Hypogonadism |
OMIM:601794 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Chronic otitis media, Pneumonia, Atyp... |
ORPHA:83471 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis |
OMIM:236792 |
Mucopolysaccharidosis Type 1 |
|
Apnea, Sinusitis, Chronic otitis media, Cough |
ORPHA:579 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Osteomyelitis, Lymphocytic interstitial pneumonia, Chronic oral candidiasis, Otitis me... |
ORPHA:2968 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Bronchiec... |
OMIM:240500 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus |
OMIM:273730 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis, Respiratory failure |
OMIM:619847 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Dyspnea, Parotitis |
ORPHA:449427 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:249630 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Gliosis, Respiratory failure |
ORPHA:3240 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent s... |
ORPHA:217390 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Respiratory insufficiency, Hydrocephalus |
ORPHA:93262 |
Edinburgh Malformation Syndrome |
|
Respiratory insufficiency, Hydrocephalus |
ORPHA:1895 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Respiratory insufficiency, Hydrocephalus |
ORPHA:1914 |
Keutel Syndrome |
|
Airway obstruction, Sinusitis, Recurrent otitis media, Malar flattening, Cartilaginous ossificati... |
OMIM:245150 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Conjunctivitis, Recurrent otitis media |
OMIM:613493 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Inspiratory stridor, Partial agenesi... |
ORPHA:1136 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Otitis media, Eczema, Recurrent upper respiratory tract infections, Inflammation of th... |
OMIM:600903 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis |
OMIM:256600 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gliosis, Ventriculomegaly |
OMIM:618321 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema |
OMIM:613960 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Gliosis, Respiratory failure |
ORPHA:280210 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... |
ORPHA:228123 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:619833 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis, Ventriculomegaly |
OMIM:252160 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Leigh Syndrome |
|
Gliosis, Increased CSF lactate, Abnormal pattern of respiration, Respiratory failure, Agenesis of... |
ORPHA:506 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Hydrocephalus, Dandy-Walker malformation, Respiratory failure requ... |
OMIM:310400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Increased CSF protein, Astrocytosis |
OMIM:203700 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Achondroplasia |
|
Hydrocephalus, Wide anterior fontanel, Central sleep apnea, Restrictive ventilatory defect, Hypox... |
ORPHA:15 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent... |
OMIM:615518 |
Weiss-Kruszka Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly |
OMIM:618619 |
Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis |
OMIM:277470 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Crouzon Syndrome |
|
Respiratory insufficiency, Hydrocephalus |
ORPHA:207 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Eczema, Delayed eruption of teeth, Carious teeth, Pneumonia |
ORPHA:811 |
Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Hydrocephalus, Ventriculomegaly, Wide anterior fontanel |
ORPHA:1860 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
Bresek Syndrome |
|
Hydrocephalus, Neonatal death |
ORPHA:85284 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Joubert Syndrome 14 |
|
Hydrocephalus, Dandy-Walker malformation, Encephalocele |
OMIM:614424 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Emanuel Syndrome |
|
Infertility, Hydrocephalus, Cough, Ventriculomegaly, Hypogonadism, Agenesis of corpus callosum, D... |
ORPHA:96170 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased CSF biopterin level, Gliosis, Decreased CSF protein, Decreased CSF albumin concentratio... |
ORPHA:404454 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Dilated fourth ventricle, Ventriculomegaly, Occipital encephalocele, Agenesis of c... |
ORPHA:370959 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Amoebiasis Due To Free-Living Amoebae |
|
Infectious encephalitis, Sinusitis, Pustule, Pneumonia |
ORPHA:68 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Aspiration, Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618651 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Ventriculomegaly |
OMIM:252150 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa... |
ORPHA:95699 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Progressive ventriculomegaly, Lateral ventricle dilatation, Ventricul... |
ORPHA:500150 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:377 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele |
ORPHA:1908 |
Focal Facial Dermal Dysplasia Type Iv |
|