Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
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 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 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
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 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
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 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
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 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
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 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian) |
|
Enlarged sylvian cistern, Perisylvian polymicrogyria |
OMIM:615752 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Bowen-Conradi Syndrome |
|
Cryptorchidism, Ventriculomegaly, Prominent nose |
ORPHA:1270 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Periventricular ribbonlike he... |
OMIM:618677 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Ventriculomegaly |
ORPHA:1568 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly |
OMIM:617800 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:607432 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly |
OMIM:615763 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Simplified gyral pattern, Ventriculomegaly |
ORPHA:329228 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:604213 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Polymicrogyria, Bilateral Temporooccipital |
|
Polymicrogyria, Ventriculomegaly |
OMIM:612691 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Narrow nasal bridge, Anteverted nares, Unilateral cryptorchidism, Ventriculomegaly |
OMIM:618286 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:620106 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Polymicrogyria, Ventriculomegaly |
ORPHA:171703 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:618730 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Ventriculomegaly, Primary amenorrhea, Secondary amenorrhea |
OMIM:620314 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Prominent nasal bridge, Abnormality of the uterus |
ORPHA:1788 |
Pettigrew Syndrome |
|
Prominent nose, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Per... |
OMIM:619895 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... |
ORPHA:93259 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly |
ORPHA:2732 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias |
ORPHA:250994 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Short nose, Depressed nasal bridge |
ORPHA:93258 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Type II lissencephaly, Ventriculomegaly |
OMIM:614830 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis |
ORPHA:1496 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Lissencephaly 3 |
|
Agyria, Periventricular laminar heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem... |
OMIM:611603 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Wide nasal bridge, Ventriculomegaly |
ORPHA:3207 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ventriculomegaly |
OMIM:613402 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculom... |
ORPHA:2185 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi... |
ORPHA:352682 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Hypoplastic femal... |
OMIM:618577 |
Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Tracheomalaci... |
ORPHA:93260 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Wide nose, Simplified gyral pattern, Convex nasal ridge |
OMIM:251230 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory insufficiency, Respiratory failure, Increased CSF protein concentratio... |
OMIM:611722 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:616486 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphology |
ORPHA:3412 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Neonatal respiratory distress, Recurrent upper respiratory tract infections, Ventriculomegaly |
OMIM:300209 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis |
ORPHA:3035 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Bulbous nose, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Ventricu... |
OMIM:617090 |
Ventriculomegaly And Arthrogryposis |
|
Ventriculomegaly |
OMIM:619501 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Anteverted nares |
ORPHA:1532 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge |
ORPHA:83473 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Micropeni... |
OMIM:619180 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Respiratory insuffi... |
ORPHA:1237 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pachygyria, Ventriculomegaly |
OMIM:617613 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ventriculomegaly |
OMIM:618383 |
Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Wide anterior fontanel, Wide nasal bridge, Lissencephaly, Ambiguous genit... |
OMIM:300215 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly |
ORPHA:324416 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, B... |
OMIM:619512 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Masa Syndrome |
|
Ventriculomegaly |
ORPHA:2466 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Bonnemann-Meinecke-Reich Syndrome |
|
Ventriculomegaly |
ORPHA:1261 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Ventriculomegaly |
OMIM:618298 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Macdermot-Winter Syndrome |
|
Ventriculomegaly, Hypoplastic male external genitalia |
OMIM:247990 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Ventriculomegaly |
OMIM:619323 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Anteverted nares |
OMIM:300884 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly |
OMIM:613925 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Short nose, Ventriculomegaly |
ORPHA:217385 |
Neurooculorenal Syndrome |
|
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the pons, Polymicrogyria, Ventr... |
OMIM:620305 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Simplified gyral pattern |
OMIM:619470 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Ventriculomegaly |
ORPHA:500166 |
Pontocerebellar Hypoplasia, Type 15 |
|
Simplified gyral pattern, Hypoplasia of the brainstem, Hydrocephalus |
OMIM:619302 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Convex nasal ridge, Ventr... |
OMIM:610333 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simplified gyral ... |
OMIM:613153 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Hy... |
OMIM:615191 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Ventriculomegaly |
OMIM:608716 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration |
ORPHA:945 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Episodic tachypnea, Hydrocephalus, Abnormal brainstem morphology, Apneic episod... |
ORPHA:163961 |
Peho-Like Syndrome |
|
Lissencephaly, Short nose, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:617507 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
3-Hydroxyisobutyric Aciduria |
|
Hypogonadotropic hypogonadism, Ventriculomegaly |
ORPHA:939 |
Alexander Disease |
|
Precocious puberty, Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency |
ORPHA:58 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Ventriculomegaly |
OMIM:616540 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Ventriculomegaly |
OMIM:115210 |
Primary Ciliary Dyskinesia |
|
Male infertility, Neonatal respiratory distress, Nasal polyposis, Female infertility, Productive ... |
ORPHA:244 |
Mehmo Syndrome |
|
Broad nasal tip, Depressed nasal tip, Male hypogonadism, Micropenis, Ventriculomegaly |
OMIM:300148 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:617862 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Anteverted nares, Wide nasal bridge, Ventriculomegaly |
OMIM:617127 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Recurrent upper respiratory tract in... |
ORPHA:261534 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly |
OMIM:602501 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short colum... |
ORPHA:171839 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Ventriculomegaly |
ORPHA:85179 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:620200 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Trisomy 5P |
|
Hypoplasia of penis, Ventriculomegaly |
ORPHA:1742 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Ventriculomegaly, Shawl scrotum |
ORPHA:85277 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Joubert Syndrome 30 |
|
Ventriculomegaly, Apnea, Tachypnea, Gray matter heterotopia, Molar tooth sign on MRI, Dandy-Walke... |
OMIM:617622 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Respiratory insufficiency, Abnormal pons morphology, Respiratory failure, Micrope... |
ORPHA:370968 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus, Anteverted nares, Short nose |
ORPHA:2701 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ventriculomegaly |
OMIM:175700 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Dandy-Walker ... |
OMIM:220220 |
Acrofacial Dysostosis 1, Nager Type |
|
Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus, Bicornuate uterus, Polymicrogyria |
OMIM:154400 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Respi... |
ORPHA:1914 |
Temple Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Hydrocep... |
OMIM:616222 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Ventriculomegaly, ... |
OMIM:617788 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Ventriculomegaly |
OMIM:616570 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Respiratory ... |
ORPHA:1895 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hypoplasia of the brainstem, Pachygyria, Hydrocephalus |
OMIM:618174 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Lissencephaly |
ORPHA:1528 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly |
ORPHA:168624 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Wide nasal bridge, Ventriculomegaly, Prominent nose |
ORPHA:137831 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal migration, Ambiguous genitalia, Vent... |
ORPHA:2772 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Aqueductal... |
ORPHA:138 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly, Periventricular heterotopia |
OMIM:618273 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:218350 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Lissencephaly 6 With Microcephaly |
|
Anteverted nares, Periventricular heterotopia, Bulbous nose, Simplified gyral pattern, Microlisse... |
OMIM:616212 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1516 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size, V... |
OMIM:615433 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Broad nasal tip |
OMIM:609757 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent outer dynein ar... |
OMIM:244400 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Ventriculomegaly |
OMIM:617977 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Ventriculomegaly |
OMIM:616531 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... |
OMIM:613443 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Hydrocephalus, Abnormality of neuronal migration, Respirat... |
ORPHA:93274 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Frontal polymicrogyria, Hypoplasia of the pons, Perisylvian polymicrogyria, Hypoplasia of the bra... |
OMIM:606854 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Polymicrogyria, Type II lisse... |
OMIM:615181 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Abnormal brainstem morphology, Ventriculom... |
ORPHA:255182 |
Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... |
OMIM:300882 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Ventriculomegaly |
OMIM:300699 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Recurrent pneumonia, Ventriculomegaly |
ORPHA:1495 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Pierpont Syndrome |
|
Cryptorchidism, Abnormal cortical gyration, Wide nasal ridge, Ventriculomegaly |
ORPHA:487825 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventriculomegaly |
OMIM:613730 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Anteverted nares, Prominent nasal bridge, Short nose |
OMIM:300558 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... |
ORPHA:377 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Simplified gyral pattern, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:615760 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Ventriculomegaly |
OMIM:301107 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ventriculomegaly |
OMIM:619701 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:2083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Hypoplasia of the pons, Ventriculomegaly |
OMIM:613151 |
Lissencephaly 8 |
|
Occipital encephalocele, Type II lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Agyr... |
OMIM:617255 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Simplified gyral pattern, Hypo... |
OMIM:300354 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Ventriculomegaly |
OMIM:300958 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Micropenis, Short nose |
OMIM:241800 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Ventriculomegaly |
ORPHA:2512 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nose, Hydrocephalus, Bulbous nose, Wide nasal... |
ORPHA:2180 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short n... |
OMIM:617822 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Broad nasal tip, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Wide nasal bridge,... |
OMIM:614969 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency |
ORPHA:2119 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventriculomegaly |
ORPHA:2515 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Type II lissencephaly, Ventriculomegaly |
ORPHA:272 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Ventriculomegaly, Periventricular heterotopia |
OMIM:618974 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria, Ventriculomegaly |
ORPHA:370980 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size, Convex nasal ridge |
ORPHA:85284 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Ventriculomegaly |
OMIM:206570 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ventriculomegaly |
OMIM:615362 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge, Ventriculomegaly |
OMIM:614066 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Ventriculomegaly |
OMIM:618251 |
Rahman Syndrome |
|
Cryptorchidism, Ventriculomegaly |
OMIM:617537 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Apnea, Ventriculomegaly |
OMIM:619797 |
Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Anteverted nares, Episod... |
OMIM:608629 |
Catel-Manzke Syndrome |
|
Ventriculomegaly |
ORPHA:1388 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Recurrent pneumonia, Hypop... |
ORPHA:500159 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Ventriculomegaly |
ORPHA:319199 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Wide nasal bridge, Respiratory failure, Pachygyria, Ventric... |
ORPHA:168486 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ventriculomegaly |
ORPHA:1188 |
Bilateral Frontoparietal Polymicrogyria |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly |
ORPHA:101070 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Ventriculomegaly |
ORPHA:99802 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... |
OMIM:312170 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly |
OMIM:619150 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Choanal atresia, Respiratory insufficiency, Convex nasal ridge |
ORPHA:93262 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Pontocerebellar Hypoplasia, Type 16 |
|
Hypoplasia of the pons, Apnea, Ventriculomegaly, Prominent nose |
OMIM:619527 |
Joubert Syndrome 9 |
|
Encephalocele, Apnea, Episodic tachypnea, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia, Ventri... |
ORPHA:2655 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Recurrent pneumonia, Ventriculomegaly, Broad nasal tip |
OMIM:615637 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Recurrent upper respiratory tract in... |
ORPHA:99330 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ventriculomegaly |
OMIM:612951 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Neuronal Intranuclear Inclusion Disease |
|
CSF pleocytosis, Increased CSF protein concentration, Ventriculomegaly |
OMIM:603472 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Olivopontocerebellar hy... |
ORPHA:370959 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Ventriculomegaly |
OMIM:617268 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Laurin-Sandrow Syndrome |
|
Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose... |
ORPHA:2378 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria |
OMIM:614219 |
Developmental And Epileptic Encephalopathy 9 |
|
Ventriculomegaly |
OMIM:300088 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Micropenis, Respiratory insufficiency, Ventriculomegaly |
OMIM:613156 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Ventriculomegaly |
ORPHA:228384 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Respiratory distress |
OMIM:306955 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Hypospadias, Wide nasal bridge, Pachygyria, Ventriculomegaly |
ORPHA:66629 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, Choroid plexus cyst... |
ORPHA:1827 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Respiratory insufficiency, Apnea, Ventriculomegaly |
OMIM:617290 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Hypoplasia of the pons, Abnormal brainstem morphology, Pachygyria, Agyria, Dysg... |
ORPHA:467166 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge |
ORPHA:1861 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Perisylvian polymicrogyria, Ventriculomegaly, Atrophy/Degeneration affecting the b... |
OMIM:619606 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Wide nasal bridge, Gonada... |
ORPHA:2075 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Lissencephaly, Dandy-Walker malformation |
OMIM:612938 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Simplified gyral pattern, Gray matter h... |
OMIM:615219 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Depressed nasal bridge, Ventriculomegaly |
OMIM:615286 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ventriculomegaly |
ORPHA:48431 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Ventriculomegaly |
ORPHA:457260 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Polymicrogyria, Da... |
OMIM:225790 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Ventriculomegaly |
OMIM:615502 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Wide anterior fontanel, Perisylvian polymicrogyria, Short... |
OMIM:616638 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Cryptorchidism, Ambiguous genitalia, Pachygyria, Ventriculomegaly |
ORPHA:452 |
6Q25 Microdeletion Syndrome |
|
Wide nasal bridge, External genital hypoplasia, Ventriculomegaly |
ORPHA:251056 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ventriculomegaly |
OMIM:616116 |
Microhydranencephaly |
|
Prominent nasal bridge, Hypoplasia of the brainstem, Hydranencephaly, Pachygyria, Ventriculomegaly |
OMIM:605013 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft |
OMIM:617542 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Hydrocephalus |
OMIM:613155 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Insp... |
OMIM:207950 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Wide nasal bridge |
OMIM:601499 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
ORPHA:261295 |
Oxoglutarate Dehydrogenase Deficiency |
|
Ventriculomegaly |
OMIM:203740 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:619556 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Microphallus, Ventriculomegaly, Abnormality of neuronal migration |
OMIM:300957 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose |
ORPHA:2184 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly |
ORPHA:2172 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Anteverted nares |
OMIM:269920 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Trisomy 1Q |
|
Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Ambiguous genita... |
ORPHA:261344 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydrocephalus, Upper airway obst... |
OMIM:207410 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly |
ORPHA:521390 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Neonatal breathing dysregulation,... |
OMIM:608091 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Respiratory insufficiency, Ventriculomegaly |
ORPHA:88639 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Apnea, Cryptorchidism, Asthma, Azoospermia, ... |
ORPHA:10 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Ventriculomegaly, Prominent nose |
OMIM:617926 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Metatropic Dysplasia |
|
Hydrocephalus, Depressed nasal bridge |
ORPHA:2635 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Crouzon Syndrome |
|
Hydrocephalus, Choanal atresia, Respiratory insufficiency, Convex nasal ridge |
ORPHA:207 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increased CSF glycine conc... |
OMIM:615330 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Abnormal fallopian... |
ORPHA:2189 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Low hanging columella |
OMIM:620157 |
Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Micropenis, Ventriculomegaly |
OMIM:308350 |
Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Respiratory insufficiency, Gray ma... |
ORPHA:1860 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge, Ventriculomegaly |
ORPHA:2158 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Galloway-Mowat Syndrome 5 |
|
Pachygyria, Ventriculomegaly |
OMIM:617731 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Rhombencephalosynapsis |
|
Anteverted nares, Hydrocephalus, Abnormality of the uterus, Short nose, Ventriculomegaly |
ORPHA:59315 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Apnea, Gray matter heterotopia, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617563 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Ventriculomegaly |
OMIM:611555 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge, Abnormality of the male... |
OMIM:614886 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Tachypnea, Abnorma... |
ORPHA:2318 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus,... |
ORPHA:899 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly |
ORPHA:60040 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Ventriculomegaly |
OMIM:179613 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Anteverted nares, Ventriculomegaly |
OMIM:616362 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Perisylvian polymicrogyria, Hypoplasia of the brainstem, Lissen... |
ORPHA:171680 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... |
ORPHA:1926 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Depressed nasal ridge, Short nose |
OMIM:300863 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Cryptorchidism, Short nose, Wide nasal bridge, Lissencephaly, Micropenis, Pachy... |
OMIM:243310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... |
OMIM:613154 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign o... |
ORPHA:220497 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... |
ORPHA:3376 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Polymicrogyria, Ventriculomegaly |
OMIM:614254 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:1647 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventricul... |
ORPHA:1812 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus... |
ORPHA:475 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Respiratory insufficiency, Ventriculomegaly |
OMIM:618241 |
Kohlschutter-Tonz Syndrome |
|
Ventriculomegaly |
OMIM:226750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Small scrotum, Prominent nose, Long nose, Cryptorchidism, Microphallus, Micropenis, Ventriculomegaly |
OMIM:300486 |
Achondroplasia |
|
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Hypoxemia, Restr... |
ORPHA:15 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short nose, Ventriculomegaly |
OMIM:613603 |
Crane-Heise Syndrome |
|
Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Ventriculomegaly |
ORPHA:1512 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Cornelia De Lange Syndrome 2 |
|
Anteverted nares, Prominent nasal bridge, Ventriculomegaly |
OMIM:300590 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Anteverted nares, Prominent nasal bridge, Bulbous nose, Respiratory insufficiency, Extra-axial ce... |
OMIM:616900 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Apnea, Bronchiectasis, Respiratory insufficiency, Increased CSF lactate, Simplified ... |
OMIM:618253 |
Pyridoxine-Dependent Epilepsy |
|
Neonatal asphyxia, Neonatal respiratory distress, Ventriculomegaly |
ORPHA:3006 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Ventriculomegaly |
ORPHA:206559 |
Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Hydrocephalus, Hypospadias, Dandy-Walker malformation |
OMIM:220210 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:603387 |
Gapo Syndrome |
|
Dysmenorrhea, Oligozoospermia, Hypogonadism, Umbilical hernia, Amenorrhea |
ORPHA:2067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Hypoplasia of the brainstem, Lis... |
OMIM:615249 |
Developmental And Epileptic Encephalopathy 65 |
|
Ventriculomegaly |
OMIM:618008 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalu... |
OMIM:616482 |
Xq12-Q13.3 Duplication Syndrome |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ventriculom... |
ORPHA:314389 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Anteverted nares, Depressed nasal bridge, Choanal atresia, C... |
ORPHA:1555 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Short nose, Ven... |
OMIM:619833 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Ventriculomegaly |
ORPHA:485350 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Apnea, Ventriculomegaly |
OMIM:618228 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Periventricular nodular h... |
OMIM:618659 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:617493 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Depressed nasal bridge, Ventriculomegaly |
OMIM:611182 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Short nose, Short nasal br... |
ORPHA:2409 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventriculomegaly |
OMIM:617616 |
Hsd10 Disease |
|
Ventriculomegaly |
ORPHA:391417 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Asthma, Polymicrogyria, Ventriculomegaly |
ORPHA:457485 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Prominent nasal bridge, Prominent nose, Cryptorchidism, Recurrent pneumonia, Ventriculomegaly |
OMIM:214150 |
Luscan-Lumish Syndrome |
|
Long nose, Irregular menstruation, Ventriculomegaly, Polycystic ovaries |
OMIM:616831 |
Desmosterolosis |
|
Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, Hydrocephalus, Abnor... |
ORPHA:35107 |
Basilicata-Akhtar Syndrome |
|
Anteverted nares, Wide nasal ridge, Precocious puberty, Choanal stenosis, Ventriculomegaly |
OMIM:301032 |
Tenorio Syndrome |
|
Wide nose, Apnea, Anteverted nares, Hydrocephalus, Recurrent pneumonia, Ventriculomegaly |
OMIM:616260 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, Aspiration p... |
OMIM:616430 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Bulbous nose, Wide nasal ridge, Ventriculomegaly |
OMIM:612936 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Depressed nasal bridge, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Micropenis |
OMIM:619951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria, Ventriculomegaly |
OMIM:616538 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge... |
OMIM:257300 |
Femoral-Facial Syndrome |
|
Cryptorchidism, Short nose, Long penis, Ventriculomegaly |
ORPHA:1988 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Gm1-Gangliosidosis, Type Iii |
|
Ventriculomegaly |
OMIM:230650 |
3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Depressed nasal bridge, Hydrocephalus, Wide n... |
ORPHA:7 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Dandy-Walker mal... |
OMIM:611134 |
Leukodystrophy, Hypomyelinating, 24 |
|
Ventriculomegaly |
OMIM:619851 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Molar tooth sign o... |
ORPHA:220493 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Micropenis, Dandy-Walker ma... |
OMIM:609029 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Ventriculomegaly |
OMIM:619922 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Simplified gyral pattern, Extra-a... |
OMIM:619179 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Seckel Syndrome 9 |
|
Clitoral hypertrophy, Asthma, Agonadism, Simplified gyral pattern, Ambiguous genitalia, Convex na... |
OMIM:616777 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Abnormal cortical gyration, Hypoplasia of the ventral pons, Hypoplasia of the brainstem, V... |
ORPHA:2524 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocep... |
OMIM:614643 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Ventriculomegaly |
ORPHA:2643 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Asthma, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... |
ORPHA:500055 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign... |
OMIM:616546 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Short nose |
ORPHA:163966 |
Ogden Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Short columella, Enlarged naris, Ventriculomegaly |
ORPHA:276432 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol... |
ORPHA:1908 |
Baraitser-Winter Syndrome 2 |
|
Pachygyria, Lissencephaly, Ventriculomegaly |
OMIM:614583 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Ventriculomegaly, Clitoral hypertrophy |
ORPHA:96181 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Micropenis, Ventriculomegaly |
OMIM:300514 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Simplified gyral patt... |
OMIM:615803 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Late... |
OMIM:618291 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Cough, Micropenis, Da... |
ORPHA:96170 |
B4Galt1-Cdg |
|
Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:79332 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Wide nasal bridg... |
OMIM:612651 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Choan... |
OMIM:123790 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Ventriculomegaly |
OMIM:616299 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Ventriculomegaly |
OMIM:616680 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the pons, Cryptorchidism, Recurrent upper respiratory tract... |
OMIM:612513 |
Roifman-Chitayat Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Pneumonia, Ventriculomegaly |
OMIM:613328 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Vaginal atresia |
ORPHA:3301 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Meningocele, Respiratory insufficiency, Short nose, ... |
ORPHA:2031 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Hydrocephalus, Asthma, Lateral ven... |
OMIM:619534 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal nasal morphology, Hypospadias, Ventriculomegaly |
ORPHA:3224 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Extra-axial cereb... |
OMIM:619383 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Respiratory insufficiency |
ORPHA:1865 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Restrictive ventilatory defect, Short nose, Increased CSF protein concentratio... |
OMIM:218000 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal brainstem morphology, Abnormal pons morphology, Polymicrogyria, Agyria, Ventriculomegaly |
ORPHA:370997 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Ambiguous genitalia, female, Ambiguous... |
OMIM:602398 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:617452 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Breathing dysregulation, Hypoplasia o... |
OMIM:610688 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly |
OMIM:253250 |
Tetrasomy 5P |
|
Respiratory distress, Anteverted nares, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge,... |
ORPHA:3309 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormality of neuronal migration, Holo... |
ORPHA:261236 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Periventricular nodular heterotopia, Vent... |
OMIM:619188 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Short nose, Micropenis, Polymicrogyria, Decreased testic... |
OMIM:614222 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Stridor, Dyspnea, Respiratory insufficiency, Ventriculomegaly |
OMIM:615182 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Ventriculomegaly |
OMIM:618547 |
Juvenile Huntington Disease |
|
Ventriculomegaly |
ORPHA:248111 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Increased CSF lactate, Lateral ventricle dilatation, Abnormal CSF ... |
ORPHA:79243 |
Rere-Related Neurodevelopmental Syndrome |
|
Anteverted nares, Hypospadias, Choanal atresia, Cryptorchidism, Ventriculomegaly |
ORPHA:494344 |
Peho Syndrome |
|
Anteverted nares, Hydrocephalus, Atrophy/Degeneration affecting the brainstem, Short nose, Ventri... |
ORPHA:2836 |
Pontocerebellar Hypoplasia, Type 9 |
|
Hypoplasia of the pons, Ventriculomegaly |
OMIM:615809 |
Noonan Syndrome 12 |
|
Ventriculomegaly |
OMIM:618624 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Developmental And Epileptic Encephalopathy 64 |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Low insertion of columella, Ventriculo... |
OMIM:618004 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Anteverted nares, Ventriculomegaly |
OMIM:272200 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Choroid plexus cyst, Upper airwa... |
OMIM:603671 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Short nose, Ventriculomegaly |
ORPHA:284169 |
Narp Syndrome |
|
Ventriculomegaly |
ORPHA:644 |
Joubert Syndrome 14 |
|
Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, M... |
OMIM:614424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Pachygyria, Ventriculomegaly |
OMIM:606612 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Bulbous nose, Wide nasal bridge, Anteverted nares, Noncommunicating hydrocephalus |
OMIM:619320 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Periventricular heterotopia |
ORPHA:255138 |
Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Micropenis, Convex nasal ridge, Ventriculomegaly |
OMIM:241410 |
Christianson Syndrome |
|
Ventriculomegaly, Abnormality of the nose |
ORPHA:85278 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... |
OMIM:615287 |
Rabin-Pappas Syndrome |
|
Hypoventilation, Broad nasal tip, Hypoplasia of the pons, Hydrocephalus, Wide nasal bridge, Trach... |
OMIM:620155 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Wide nasal bridge, Ventriculomegaly |
OMIM:618342 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Periventricular heteroto... |
OMIM:618870 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, P... |
ORPHA:398079 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Wide nasal bridge, Ventriculomegaly |
OMIM:611087 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Bulbous nose, Hydrocephalus, Dandy-Walker malformation, Ventriculome... |
OMIM:618476 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, Wide nasal bridge, Ventriculomegaly |
ORPHA:765 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Increased CSF lactate, Pulmonary arterial hypertension, Ventri... |
OMIM:619272 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Gray matter heterotopia, Lateral ... |
OMIM:617397 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Cryptorchidism, Meningo... |
OMIM:236670 |
Trisomy 17P |
|
Wide nose, Hypoplasia of penis, Prominent nose, Hydrocephalus, Thick nasal alae |
ORPHA:261290 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria, Ovarian neoplasm |
ORPHA:65285 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Holoprosencephaly, Ven... |
OMIM:612530 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cryptorchidism, Wide nose, Prominent nasal bridge, Ventriculomegaly |
ORPHA:505237 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Ventriculomegaly, Depressed nasal bridge, Increased CSF lactate, Inspirator... |
OMIM:604377 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares |
ORPHA:1064 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Aspirat... |
OMIM:617053 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Low hanging columella, Underdeveloped nasal alae, Ventriculomegaly, Broad nasal tip |
ORPHA:404473 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Ventriculomegaly |
OMIM:618603 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Wide nasal bridge, Ventriculomegaly, Convex nasal ridge |
OMIM:618804 |
Fg Syndrome Type 1 |
|
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Pulmonary arterial h... |
ORPHA:93932 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... |
OMIM:142945 |
Chromosome 19P13.13 Deletion Syndrome |
|
Ventriculomegaly |
OMIM:613638 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Long nose, Micropenis, Ventriculomeg... |
ORPHA:363444 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Hypoplasia of the pons, Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, V... |
OMIM:617669 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Hydrocephalus, Hypoplastic ma... |
OMIM:605627 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Anteverted nares, Polycystic ovaries |
ORPHA:2969 |
Chromosome 17P13.1 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Spina bifida, Prominent nasal bridge, Hydrocephalus, Bu... |
OMIM:613776 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Ventriculomegaly |
ORPHA:251009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hydrocephalus, Respiratory insufficiency, Hypoplasia of the brainstem, Lis... |
OMIM:253800 |
H Syndrome |
|
Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Azoospermia, Hypogonadism, Chronic rhinitis... |
ORPHA:168569 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Convex nasal ridge, Ventriculomegaly |
ORPHA:2323 |
Fraser Syndrome 3 |
|
Wide nose, Hypoplasia of penis, Small scrotum, Hydrocephalus, Convex nasal ridge |
OMIM:617667 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Respiratory insufficiency, Ovarian neopla... |
ORPHA:87 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventriculomegaly |
OMIM:620210 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Short columella, Ventriculomegaly |
ORPHA:404443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate |
OMIM:619051 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Prominent nose |
OMIM:617281 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis, P... |
OMIM:264480 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Anteverted nares, Short nose, Wide nasal bridge, Micropenis, Pleural effusion, Ventr... |
OMIM:616897 |
Rasmussen Subacute Encephalitis |
|
Ventriculomegaly, Increased CSF protein concentration, Abnormal cerebrospinal fluid morphology |
ORPHA:1929 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Anteverted nares, Depressed nasal bridge, Wide... |
OMIM:618188 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Crouzon Syndrome |
|
Hydrocephalus, Deviated nasal septum, Dysgerminoma |
OMIM:123500 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Dandy-Walker malformation |
ORPHA:2481 |
Linear Verrucous Nevus Syndrome |
|
Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2611 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Ventriculomegaly |
ORPHA:238750 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Hydrocephalus, Irregul... |
OMIM:101800 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Ventriculomegaly |
ORPHA:500180 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Anteverted nares, Depressed nasal bridge |
ORPHA:585 |
Pseudo-Torch Syndrome 1 |
|
Anteverted nares, Lissencephaly, Pachygyria, Increased CSF protein concentration, Polymicrogyria,... |
OMIM:251290 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Ventricul... |
ORPHA:254346 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Short nose, Anteverted nares, Ventriculomegaly |
OMIM:618619 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly |
OMIM:614576 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Absent nares, Hol... |
ORPHA:2166 |
Thanatophoric Dysplasia, Type Ii |
|
Respiratory insufficiency, Ventriculomegaly |
OMIM:187601 |
Cadds |
|
Short nose, Ventriculomegaly |
ORPHA:369942 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation |
ORPHA:459061 |
Houge-Janssens Syndrome 3 |
|
Hypoplasia of the brainstem, Ventriculomegaly, Broad nasal tip |
OMIM:618354 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Wide nasal bridge, Ventriculomegaly |
OMIM:607906 |
Whipple Disease |
|
Hydrocephalus, Respiratory insufficiency, Erectile dysfunction, Cough |
ORPHA:3452 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Ventriculomegaly |
OMIM:620166 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Ventriculomegaly, Hyperventilation |
OMIM:617903 |
Gracile Bone Dysplasia |
|
Micropenis, Hydrocephalus |
OMIM:602361 |
Koolen-De Vries Syndrome |
|
Hypospadias, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wid... |
ORPHA:96169 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Simplified gyral pattern, Mic... |
OMIM:616541 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bulbous nose, Hydrocephalus, Narrow nasal ridge |
OMIM:612940 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Hypogonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip,... |
OMIM:212720 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Snijders Blok-Campeau Syndrome |
|
Wide nasal bridge, Ventriculomegaly, Prominent nose |
OMIM:618205 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Glandular hypospadias, Increased CSF lactate, Decreased CSF c... |
OMIM:620306 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Respiratory insufficiency, Retractile testis, Atrophy/Degeneration affecting the brainstem, Ventr... |
OMIM:617193 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Ventriculomegaly |
OMIM:618707 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Narrow nose, Cry... |
OMIM:618454 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Bulbous nose, Wide nasal bridge, Ventriculomegaly |
OMIM:613744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Pachygyria, Ven... |
OMIM:613150 |
Mend Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Abnormal nasal bri... |
ORPHA:401973 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Anteverted nares, Lateral ventricle dilatation |
OMIM:612863 |
Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Clitoral hy... |
OMIM:147791 |
Marshall-Smith Syndrome |
|
Short nose, Anteverted nares, Choanal atresia, Ventriculomegaly |
ORPHA:561 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Ventriculomegaly |
OMIM:613735 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Anteverted nares, Depressed nasal bridge, Long nose, Cryptorchidism, Bulbous nose, Micropenis, Ve... |
OMIM:620224 |
Distal Triplication 15Q |
|
Hydrocele testis, Hydrocephalus, Abnormal external genitalia, Dandy-Walker malformation |
ORPHA:314588 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis morphology, Ve... |
ORPHA:96147 |
Trichorhinophalangeal Syndrome Type 2 |
|
Bulbous nose, Thick nasal alae, Wide nasal bridge, Ventriculomegaly |
ORPHA:502 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ventriculomegaly |
ORPHA:1933 |
Holoprosencephaly 7 |
|
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... |
OMIM:610828 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Hypospadias, Depressed nasal bridge, Wide nasal bridge, Lateral ve... |
OMIM:619479 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Periventricular heterotopia, Cryptorchidism, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Depressed nasal bridge, Apnea, Anteverted nares, Respiratory failure, Ventriculomegaly |
OMIM:617301 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Hydrocephalus, Meningocele, Short nasal bridge |
OMIM:130720 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Ventriculomegaly |
ORPHA:363429 |
Tatton-Brown-Rahman Syndrome |
|
Short columella, Anteverted nares, Ventriculomegaly |
OMIM:615879 |
Monosomy 18Q |
|
Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Hydrocephalus, Bulbous nose, Ch... |
ORPHA:1600 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Bulbous nose, Wide nasal bridge |
ORPHA:250989 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Ventriculomegaly |
ORPHA:500533 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Myelomeningocele, ... |
OMIM:613686 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:617807 |
Temtamy Syndrome |
|
Convex nasal ridge, Ventriculomegaly |
OMIM:218340 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Abnormal... |
ORPHA:1454 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Hydrocephalus, Depressed nasal bridge, Short nose |
OMIM:618590 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus |
OMIM:612284 |
Cog8-Cdg |
|
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:95428 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Respirato... |
ORPHA:163979 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choa... |
ORPHA:2162 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Dandy-Walker malformation, Ventriculomegaly |
OMIM:220500 |
Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Ventriculomegaly |
OMIM:609180 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Wide anterior fontan... |
OMIM:305450 |
Lissencephaly Due To Lis1 Mutation |
|
Ventriculomegaly, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria,... |
ORPHA:95232 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Olivopontocerebellar hypoplasia, Hydrocephalus, Aplasia of the vagina, Aplasia ... |
ORPHA:457284 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Ambiguous genitalia, Micropenis, Ventriculomegaly |
OMIM:617159 |
Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Respiratory insufficie... |
OMIM:254940 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Wide nasal bridge, Short nose, Broad nasal tip |
OMIM:239300 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain, Ventriculomegaly |
OMIM:616202 |
Dpm1-Cdg |
|
Pontocerebellar atrophy, Depressed nasal bridge, External genital hypoplasia, Ventriculomegaly |
ORPHA:79322 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short nose, Ventriculomegaly |
OMIM:615851 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Chronic lung disease, Hypospadias, Apnea, Depressed na... |
ORPHA:397715 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Ventriculomegaly |
ORPHA:79323 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation |
OMIM:612582 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Achondroplasia |
|
Respiratory distress, Depressed nasal bridge, Hydrocephalus, Upper airway obstruction, Brain stem... |
OMIM:100800 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... |
ORPHA:98754 |
Malan Syndrome |
|
Short nose, Ventriculomegaly |
OMIM:614753 |
Prader-Willi Syndrome |
|
Narrow nasal bridge, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidi... |
ORPHA:739 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge |
OMIM:104350 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Narrow ... |
OMIM:616914 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Short columella, Polymicrogyria, Ventriculomegaly |
OMIM:619775 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidi... |
ORPHA:398069 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Pontocerebellar Hypoplasia, Type 2B |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Ventriculomegaly |
OMIM:612389 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Increased CSF lactate, Bradypnea, Cervical myelopathy, Respiratory failure, Ventricul... |
OMIM:617186 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Tracheomalacia, Male pseudohermaphroditism, Respiratory insufficiency, Ab... |
ORPHA:140 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Ventriculomegaly |
OMIM:620183 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Precocious puberty, Wide nasal bridge, Short nose, Vent... |
ORPHA:819 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Ventriculomegaly |
OMIM:618314 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge |
ORPHA:2268 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia |
ORPHA:1834 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, External genital hypoplasia, Spina bifida, Abnormal cortical gyration, Depresse... |
ORPHA:2671 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... |
ORPHA:98793 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal sperm morphology, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF l... |
ORPHA:228123 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Depressed nasal bridge, Choanal atresia, Abnormal cortical gyration, Promin... |
OMIM:300968 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Pachygyria, Simplified gyral pattern, Ventriculomegaly, Increased CSF lactate |
OMIM:618397 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Wide nasa... |
ORPHA:444072 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Wide nasal bridge, Ventriculomegaly, Broad nasal tip |
OMIM:614749 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... |
ORPHA:177904 |
Sotos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Enlarged naris, Ventri... |
OMIM:117550 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... |
OMIM:309801 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precoci... |
ORPHA:177901 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Cough, Thick ... |
ORPHA:579 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Broad nasal tip, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morphology, M... |
ORPHA:1655 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Penile hypospadias, Recurrent aspiration pneumonia, Ventriculomegaly |
ORPHA:73230 |
Marshall-Smith Syndrome |
|
Apnea, Choanal atresia, Anteverted nares, Depressed nasal bridge, Bilateral cryptorchidism, Crypt... |
OMIM:602535 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Ventriculomegaly |
OMIM:619074 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Anteverted nares |
OMIM:182212 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Lissencephaly, Spina bifida |
ORPHA:99742 |
Neu-Laxova Syndrome 2 |
|
Ventriculomegaly, Depressed nasal ridge, Spina bifida, Lissencephaly |
OMIM:616038 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Poly... |
ORPHA:228308 |
Gillespie Syndrome |
|
Ventriculomegaly |
OMIM:206700 |
Fumarase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choroid plexus cyst, Hypoplasia of the brainstem, Lisse... |
OMIM:606812 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares, Glandular hypospadias, Ventriculomegaly |
ORPHA:1358 |
Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism, Ventriculomegaly |
OMIM:610651 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Clitoral hypertrophy, Hypospadias, Anteverted nares, Recurrent pneumonia, Pulmonary arterial hype... |
OMIM:616449 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Ventriculomegaly |
OMIM:618381 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Wide anterior fontanel, Convex nasal ridge, Ventriculomegaly |
OMIM:618150 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Bilateral choanal atresia/stenosis, Wide nasal bridge, Gray matter heterotopia, Trac... |
ORPHA:314679 |
Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis, Ve... |
OMIM:610954 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Anteverted nares, Rectovaginal fistula |
ORPHA:1780 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Hypoplasia of the pons, Simplified gyral pattern, Respiratory insuffici... |
OMIM:615574 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Micropenis, Wide nasal bridge, Ventriculomegaly |
OMIM:235255 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Choanal stenosis, Vaginal... |
OMIM:101200 |
Mohr Syndrome |
|
Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip |
OMIM:252100 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Poly... |
ORPHA:157 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
Prader-Willi Syndrome |
|
Narrow nasal bridge, Hypoventilation, Small scrotum, Hypogonadotropic hypogonadism, External geni... |
OMIM:176270 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Convex nasal ridge, Ventriculomegaly |
OMIM:610965 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Anteverted nares, Cryptorchidism, Dyspnea, Short nose, Tracheom... |
ORPHA:261494 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Single naris, ... |
OMIM:610829 |
Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus, Hypospadias |
OMIM:313850 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Apnea, Cryptorchidism, Ventriculomegaly |
ORPHA:2462 |
Dubowitz Syndrome |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Asthma, Wide anterior fontane... |
ORPHA:235 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Convex nasal ridge, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreased testicular size... |
OMIM:619321 |
Pentalogy Of Cantrell |
|
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias |
ORPHA:1335 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Broad nasal tip, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Abnormal c... |
ORPHA:96121 |
Mend Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Dandy-Walker malformation |
OMIM:300960 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Prostatitis |
ORPHA:1546 |
Fanconi Anemia, Complementation Group W |
|
Ventriculomegaly |
OMIM:617784 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Ventriculomegaly, Respiratory insufficiency, Spina bifida |
ORPHA:1120 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Cryptorchidism, Wide anterior fontanel, Short nose, Dandy-Walker m... |
ORPHA:3338 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Ventriculomegaly, Aspiration pneumonia |
ORPHA:431361 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Hypospadias, Depressed nasal bridge, Abnormal cortical ... |
OMIM:219000 |
Craniopharyngioma |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology |
ORPHA:54595 |
1P31P32 Microdeletion Syndrome |
|
Ventriculomegaly |
ORPHA:401986 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventriculomegaly |
OMIM:618052 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormal brainstem morphology |
ORPHA:2720 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Cryptorchidism, Bulbous nose, Flared nostrils, Wide nasal bridge, Ventriculomegaly |
OMIM:616737 |
Dextrocardia |
|
Abnormal reproductive system morphology, Hydrocephalus |
ORPHA:1666 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Depressed nasal bridge, Prominent nose, Cryptorchidism, Asthma, Choanal stenosis, Mi... |
OMIM:601808 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Prominent nasal bridge, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cry... |
ORPHA:468631 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Ventriculomegaly, Increased CSF lactate |
ORPHA:500144 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Fryns Syndrome |
|
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge, Bicornuate uterus, Dandy-Walker... |
ORPHA:2059 |
Distal Deletion 3P |
|
Cryptorchidism, Anteverted nares, Ventriculomegaly |
ORPHA:1620 |
Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:618798 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, A... |
ORPHA:564 |
Shashi-Pena Syndrome |
|
Mild fetal ventriculomegaly, Ventriculomegaly, Broad nasal tip |
OMIM:617190 |
Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventriculomegaly |
ORPHA:1272 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose |
ORPHA:1340 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Ventriculomegaly |
OMIM:618222 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Anteverted nares, Wide nasal bridge, Lobar holoprosencephaly, Short nose, Ventriculomegaly |
OMIM:614701 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Ovarian fibroma, Short nose, Ventriculomegaly |
ORPHA:77301 |
Stromme Syndrome |
|
Prominent nasal bridge, Hydrocephalus, Short columella, Wide nasal bridge |
OMIM:243605 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Precocious puberty, Underdeveloped nasal alae, Wide nasal bridge, Abnormality of ... |
ORPHA:2637 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventriculomegaly, Spina bifida, Cryptorchidism, Bulbous nose, Abnormality of... |
ORPHA:99776 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Hypogonadism, Prominent nasal tip, Decreased testicula... |
ORPHA:261349 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Neonatal respiratory distress, Ventriculomegaly |
ORPHA:589821 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Tracheomalacia, Ventriculomegaly |
ORPHA:261652 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ventriculomegaly |
ORPHA:466934 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nasal bridge |
OMIM:607014 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cryptorchidism, Gray matter heterotopia, Pachygyria, Ventriculomegaly |
OMIM:620024 |
Mucopolysaccharidosis, Type Ii |
|
Asthma, Hydrocephalus, Recurrent pneumonia, Tracheobronchomalacia, Airway obstruction |
OMIM:309900 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Ventriculomegaly |
ORPHA:289483 |
Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Wide nasal bridge, Respiratory insufficiency |
OMIM:620351 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... |
OMIM:258040 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Leukodystrophy, Hypomyelinating, 12 |
|
Ventriculomegaly |
OMIM:616683 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Hypoplasia of the brainstem, Polymicrogyria, Ventr... |
OMIM:618343 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Hydrocephalus, Sing... |
OMIM:273395 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Developmental And Epileptic Encephalopathy 80 |
|
Polymicrogyria, Wide nasal bridge, Ventriculomegaly |
OMIM:618580 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... |
ORPHA:63259 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Short colume... |
ORPHA:2322 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Ventriculomegaly |
OMIM:619121 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased CSF lactate, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:614946 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Aplasia of the uterus, Micropenis |
OMIM:614083 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Depressed nasal bridge, Short nose, Underdeveloped nasal alae |
OMIM:616007 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Short nose |
ORPHA:90652 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Curry-Jones Syndrome |
|
Ventriculomegaly |
ORPHA:1553 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... |
ORPHA:264450 |
Hennekam-Beemer Syndrome |
|
Wide nose, Pneumonia, Long nose, Wide nasal bridge, Respiratory insufficiency, Ventriculomegaly |
ORPHA:2135 |
Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Rhinitis |
ORPHA:93473 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Simplified gyral pattern, Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lissencepha... |
ORPHA:300570 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Bulbous nose, Abnormality of neuronal migration, Respirator... |
OMIM:608836 |
Developmental And Epileptic Encephalopathy 84 |
|
Ventriculomegaly |
OMIM:618792 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Wide nasal bridge, Hypoplasia of the brainstem, Lateral ventricle dilat... |
ORPHA:572798 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, External genital hypoplasia,... |
OMIM:249000 |
Distal Deletion 6P |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Ventriculomegaly |
ORPHA:96125 |
Adams-Oliver Syndrome |
|
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:974 |
Congenital Myopathy 13 |
|
Hypercapnia, Cryptorchidism, Hypoxemia, Restrictive ventilatory defect, Ventriculomegaly |
OMIM:255995 |
Koolen-De Vries Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Bulbous nose, Pear-shaped nose, Gray matter heterotopia, ... |
OMIM:610443 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Pneumothorax, Prominent nasolabial fold, Short nose, Ventriculomegaly |
ORPHA:2953 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Decreased CSF 5-hydroxyindolacetic acid concentration, Ventriculomegaly... |
OMIM:278800 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Bifid nose |
ORPHA:268249 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Asthma, Hydrocephalus, Allergic rhinitis |
OMIM:618162 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Depressed nasal bridge, Lateral ventricle dilatation |
OMIM:619575 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphyse... |
ORPHA:538 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Choanal atresia, Epispadias,... |
ORPHA:2658 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypogonadism, Abnormal cortical gyration, Ventriculomegaly |
ORPHA:79351 |
Codas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Rectovaginal fistula, Ventriculomegaly |
OMIM:600373 |
Fanconi Anemia |
|
Hypospadias, Choanal atresia, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydroc... |
ORPHA:84 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Anteverted nares, Ventriculomegaly, Broad nasal tip |
OMIM:618548 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Abnormal cortical gyration, Respiratory insufficiency, Short nose, Ventriculomegaly |
OMIM:617527 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Respiratory failure, Ventriculomegaly |
ORPHA:88618 |
Distal 22Q11.2 Microduplication Syndrome |
|
Wide nose, Cryptorchidism, Hydrocephalus, Bulbous nose, Depressed nasal ridge |
ORPHA:261337 |
Galloway-Mowat Syndrome 9 |
|
Ventriculomegaly |
OMIM:619603 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Respiratory insufficiency, Ventriculomegaly, Low hanging columella |
OMIM:617260 |
Halperin-Birk Syndrome |
|
Aspiration, Colpocephaly, Ventriculomegaly, Semilobar holoprosencephaly |
OMIM:618651 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Ventriculomegaly |
OMIM:620352 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Precocious puberty, Crypt... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Testicular neoplasm, Spina bifida, Precocious puberty, Crypt... |
ORPHA:363958 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Tetrasomy 9P |
|
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Umbilical hernia, Micropenis, Pachyg... |
ORPHA:3310 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Concave nasal ridge, Hypospadias, Ventriculomegaly |
OMIM:615471 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares, Ventriculomegaly |
OMIM:612394 |
Hajdu-Cheney Syndrome |
|
Wide nose, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus |
OMIM:102500 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Short nose, Ventriculomegaly |
OMIM:608013 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short nose, Ventriculomegaly |
ORPHA:1394 |
Tbck-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Asthma, Bulbous nose, Wide nasal bridge, Respiratory insufficiency, Ventriculomegaly |
ORPHA:488632 |
Alg12-Cdg |
|
Wide nose, Hypospadias, Prominent nasal bridge, Cryptorchidism, Recurrent pharyngitis, Recurrent ... |
ORPHA:79324 |
Plaa-Associated Neurodevelopmental Disorder |
|
Apnea, Abnormal cortical gyration, Respiratory insufficiency, Short nose, Ventriculomegaly |
ORPHA:521426 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventriculomegaly, Hypospadias, Anteverted nares, Cryptorchidism,... |
ORPHA:2745 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Ventriculomegaly, CSF lymphocytic pleiocytosis |
ORPHA:292 |
Weaver Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Hydrocele testis, Lateral ventricle dilatation, Ventricul... |
OMIM:277590 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Wide nose, Hypospadias, Epispadias, Male pseudoh... |
ORPHA:2556 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus |
OMIM:619377 |
Au-Kline Syndrome |
|
Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... |
OMIM:616580 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Clitoral hypertrophy, Anteverted nares, Depressed nasal bridge, Hy... |
OMIM:244450 |
Isolated Sedoheptulokinase Deficiency |
|
Neonatal asphyxia, Ventriculomegaly |
ORPHA:440713 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation |
OMIM:612301 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Hydrocephalus, Short nose |
OMIM:115150 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis, Hypog... |
ORPHA:1449 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Depressed nasal bridge, Broad nasal tip, Asthma, Bulbous nose, Wide nasal bridge, Abnormal nostri... |
ORPHA:466950 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge |
ORPHA:1571 |
Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:259775 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Depressed ... |
OMIM:114290 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:314585 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Ambiguous genitalia |
OMIM:269860 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Respiratory failure, Ventriculomegaly |
OMIM:259720 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Airway obstruction |
OMIM:253220 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma |
OMIM:109400 |
14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Small scrotum, Ventriculomegaly, Underdeveloped nasal alae |
ORPHA:264200 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Hydrocephalus, Wide nasa... |
OMIM:311200 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Extra-axial cerebrospinal fluid accumulation, Apnea, Ventriculomegaly |
OMIM:619580 |
Coloboma, Ocular, Autosomal Dominant |
|
Ventriculomegaly |
OMIM:120200 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Anteverted nares |
ORPHA:2306 |
Bilateral Polymicrogyria |
|
Perisylvian polymicrogyria, 4-layered lissencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the ... |
ORPHA:268940 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Depressed nasal bridge, Periventricular heterotopia, Cryptorchidism, Hydrocephalus... |
OMIM:612289 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Anteverted nares, Repeated pneumothoraces, Depressed nasal bridge, Hydrocep... |
ORPHA:536467 |
Mucopolysaccharidosis, Type Vi |
|
Depressed nasal bridge, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, C... |
OMIM:253200 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Hydrocephalus, Epistaxis |
ORPHA:137667 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Abnormal brainstem morphology, Abnormality o... |
ORPHA:464311 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Micropenis, Hypergonadotropic hypogonadism, Hydrocephalus |
OMIM:227646 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Meningioma |
|
Hypogonadotropic hypogonadism, Progressive pulmonary function impairment, Hydrocephalus, Abnormal... |
ORPHA:2495 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Short nose, Ventriculomegaly |
OMIM:230740 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide na... |
ORPHA:221139 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Depressed nasal bridge, Anteverted nares, Ventriculomegaly |
OMIM:619743 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ventriculomegaly, Wide nose, Apnea, Vaginal neoplasm, Depressed nasal ridge, Holoprosencephaly, A... |
ORPHA:1052 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Anteverted nares, Septate vagina, Depressed nasal brid... |
OMIM:270400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Type II lissencephaly, Hydrocephalus, Hypoplasia of the brainstem, Pachygyria... |
OMIM:253280 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Azoospermia, Pulmonary arterial hypertension, Ve... |
ORPHA:2072 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Stridor, Pulmonary arterial hypertension, Short nose, Airway... |
ORPHA:505248 |
Galloway-Mowat Syndrome 1 |
|
Narrow nasal ridge, Prominent nose, Pachygyria, Hypoplasia of the brainstem, Dandy-Walker malform... |
OMIM:251300 |
Familial Multiple Lipomatosis |
|
Ventriculomegaly |
ORPHA:199276 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly |
OMIM:304790 |
Pyruvate Carboxylase Deficiency |
|
Increased CSF alanine concentration, Increased CSF citrulline concentration, Tachypnea, Increased... |
ORPHA:3008 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Choanal atresia, Cryptorchidism, Chordee, Choanal stenosis, Spina bifida occulta, Ve... |
OMIM:151050 |
Hoyeraal-Hreidarsson Syndrome |
|
Ventriculomegaly |
ORPHA:3322 |
2Q31.1 Microdeletion Syndrome |
|
Cryptorchidism, Bulbous nose, Ventriculomegaly |
ORPHA:251014 |
Cockayne Syndrome A |
|
Slender nose, Prominent nose, Cryptorchidism, Irregular menstruation, Normal pressure hydrocephal... |
OMIM:216400 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
OMIM:617011 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Concave nasal ridge, Dandy-Walker malformation |
OMIM:302960 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism |
ORPHA:3042 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria, Ventriculomegaly |
OMIM:601707 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Costello Syndrome |
|
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Pneumothorax, Re... |
OMIM:218040 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Prominent nasal bridge |
ORPHA:221120 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Hydrocephalus, Depressed nasal bridge |
ORPHA:1106 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Hypospadias, Choanal atresia, Hypoplasia of the pons, Cryptorchidism, Bulbous n... |
OMIM:616975 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Depressed nasal bridge, Hypospadias, Cryptorchidism, Wide nasal bridge, Ventriculo... |
OMIM:616734 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Abnormal cortical gyration, Prominent nose, Cryptorchidism, Hydrocephalus, Resp... |
OMIM:210710 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Narrow nasal tip, Prominent nasal bridge, Cryptorchidism, Hypoplasia of the brainste... |
ORPHA:464306 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter heterotopia, Midl... |
OMIM:236680 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bulbous nose, Ventriculomegaly |
OMIM:614501 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventriculomegaly, Depressed nasal bridge, Wide nasal bridge, Primary amenorrhea |
OMIM:619418 |
Alobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Proboscis, Hydrocephalus, Abnormal brainstem morphology, Depressed nasal ridge, Si... |
ORPHA:220386 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Hypospadias, Anteverted nares, Depressed nasal br... |
OMIM:269150 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Asthma, Nasal flaring, Bulbous nose, Wide nasal bridge, ... |
ORPHA:466943 |
Developmental And Epileptic Encephalopathy 100 |
|
Depressed nasal bridge, Broad nasal tip, Aspiration, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:619777 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Depressed nasal bridge |
OMIM:245600 |
Adnp Syndrome |
|
Respiratory distress, Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract i... |
ORPHA:404448 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Hydrocephalus, Upper airway obstruction, Aspiration pneumonia, Thick nasal alae, Ven... |
ORPHA:581 |
Kabuki Syndrome 1 |
|
Premature thelarche, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Later... |
OMIM:147920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ventriculomegaly |
OMIM:619355 |
Histiocytoid Cardiomyopathy |
|
Cough, Hydrocephalus, Tachypnea, Polycystic ovaries |
ORPHA:137675 |
Galloway-Mowat Syndrome 3 |
|
Pachygyria, Lissencephaly, Simplified gyral pattern, Ventriculomegaly |
OMIM:617729 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Choanal atresia, Spina bifida, Prominent nasal bridge, Cryptorchidism, Hydrocephalus... |
ORPHA:567 |
Jacobsen Syndrome |
|
Anteverted nares, Spina bifida, Cryptorchidism, Wide nasal bridge, Short nose, Pachygyria, Broad ... |
ORPHA:2308 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Prominent nasal bridge, Ventriculomegaly |
ORPHA:457359 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Hypospadias, Epistaxis, Prominent nasal bridge, Anteverted nares, De... |
OMIM:619841 |
Caribbean Parkinsonism |
|
Ventriculomegaly |
ORPHA:97355 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Hydrocephalus, Wide nasal bridge, Tracheomalacia, Spina bifida occulta |
OMIM:300373 |
Ogden Syndrome |
|
Apnea, Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchidism, Wide a... |
OMIM:300855 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Depressed nasal tip |
OMIM:208150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hypospadias, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Bulbous nose, Short nose, M... |
OMIM:309590 |
Ctcf-Related Neurodevelopmental Disorder |
|
Ventriculomegaly, Anteverted nares, Phimosis, Broad nasal tip, Cryptorchidism, Hypoplastic labia ... |
ORPHA:363611 |
Peters Plus Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Hypoplasia ... |
ORPHA:709 |
Hajdu-Cheney Syndrome |
|
Wide nose, Hypospadias, Anteverted nares, Hydrocephalus, Wide nasal bridge |
ORPHA:955 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose, Ventriculomegaly |
OMIM:252160 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea |
OMIM:261740 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Ventriculomegaly |
OMIM:252150 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nas... |
OMIM:619325 |
Baller-Gerold Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Wide anterior fontanel, Hydrocephalus, Perinea... |
OMIM:218600 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Prominent nasal bridge, Premature thelarche, Underdeveloped nasal alae, Broad nasal ... |
ORPHA:268261 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Aplasia of the... |
OMIM:194190 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Epispadias, Hydrocephalus, Hypospadias |
ORPHA:2461 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Hypospadias, Anteverted nares, Cryptorchidism, Hydrocephalus, Hypoplastic labi... |
ORPHA:3472 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Wide nose, Spina bifida, Bifid uterus, Cryptorchidism, Choroid plexus cyst, Dep... |
OMIM:256520 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, ... |
OMIM:607872 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Depressed nasal bridge, Spina bifida, Cryptorchidism, Hydrocephalus, Wide anterior f... |
OMIM:304120 |
Slc39A8-Cdg |
|
Sudden episodic apnea, Ventriculomegaly, Increased CSF lactate |
ORPHA:468699 |
Linear Nevus Sebaceus Syndrome |
|
Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Ventriculomegaly, Depressed nasal bridge, Wide nose, Urethrovaginal fistula,... |
ORPHA:93271 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Apnea, Anteverted nares, Wide nasal bridge, Dandy-Walker malformation, Ve... |
ORPHA:97297 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Bulbous nose, Flared nostrils, Wide nasal bridge, Dandy-Walker malformation, Ventric... |
ORPHA:487796 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism |
ORPHA:79282 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Anteverted nares, Hydrocephalus, Bulbous nose, Short nose, Wide nasal... |
OMIM:619475 |
Cockayne Syndrome B |
|
Slender nose, Prominent nasal bridge, Cryptorchidism, Normal pressure hydrocephalus, Micropenis |
OMIM:133540 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Increased CSF lactate, Hypopnea, Respiratory failure, Respiratory arrest, Ventriculomegaly |
OMIM:617248 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Pneumonia, Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Cryptorchid... |
OMIM:264090 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dyspnea, Respiratory failure, Respiratory insufficiency, Ventriculomegaly |
OMIM:610505 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Bulbous nose, Perisylvian polymicrogyria, Ventriculomegaly |
OMIM:610442 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis |
ORPHA:667 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Polymicrogyria, Pulmonary arterial hypertension, Pachygyria, Imperforate hymen, Ve... |
OMIM:100300 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Hypospadias, Broad nasal tip, Wide anterior fontanel, Recurre... |
ORPHA:798 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Brain stem compression, Hydrocephalus |
ORPHA:637 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Thick nasal septum, Uterine prolapse, Short nose, Thick nasal alae, ... |
OMIM:303600 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... |
OMIM:219700 |
Aicardi Syndrome |
|
Precocious puberty, Pachygyria, Polymicrogyria, Ventriculomegaly |
ORPHA:50 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Ventriculomegaly |
OMIM:618164 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Wide nose, Recurrent upper respiratory tract infection... |
ORPHA:580 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Choanal atresia, Bifid uterus, Cryptorchidism,... |
OMIM:107480 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Occipital meningocele, Spina bifid... |
OMIM:267750 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Cryptorchidism, Hydrocephalus, Myelomeningo... |
OMIM:305600 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Cryptorchidism, Pneumothorax, Short columella, Short nose, Ventriculomegaly |
OMIM:601776 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Depressed nasal bridge, Anteverted nares, Tracheomalacia, Prominent nasal tip, Pachygyria, Ventri... |
ORPHA:513456 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Dilated fourth ventricle, Respiratory distress, Depressed nasal bridge, Choanal atresia, Abnormal... |
ORPHA:480880 |
Neurofibromatosis Type 1 |
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Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:636 |
Proboscis Lateralis |
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External genital hypoplasia, Proboscis, Choanal atresia, Single naris, Holoprosencephaly, Ventric... |
ORPHA:141099 |
Gaucher Disease |
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Pulmonary arterial hypertension, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:355 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Depressed nasal bridge, Pneumonia |
ORPHA:309282 |
Witteveen-Kolk Syndrome |
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Wide nose, Unilateral cryptorchidism, Hypospadias, Prominent nasal bridge, Phimosis, Anteverted n... |
OMIM:613406 |
Osteogenesis Imperfecta |
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Neonatal respiratory distress, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem compress... |
ORPHA:666 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Respiratory failure, Tachypnea, Respiratory insufficiency, Ventriculomegaly |
OMIM:618278 |
Split Cord Malformation |
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Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... |
ORPHA:573278 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Hyp... |
OMIM:261540 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Lon... |
OMIM:268300 |
Gabriele-De Vries Syndrome |
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Cryptorchidism, Bulbous nose, Ventriculomegaly |
ORPHA:506358 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, ... |
ORPHA:1606 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99413 |
Mosaic Monosomy X |
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Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99228 |
Monosomy X |
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Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99226 |
Turner Syndrome |
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Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:881 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Hypospadias, Choanal atresia, Anteverted nares, Depressed nasal bridge, Cryp... |
ORPHA:199 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Neonatal respiratory distress, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchid... |
OMIM:312870 |
Noonan Syndrome 1 |
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Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |
Wiedemann-Rautenstrauch Syndrome |
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Hypogonadotropic hypogonadism, Hypospadias, Wide nasal ridge, Anteverted nares, Cryptorchidism, H... |
ORPHA:3455 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Prominent nasal tip, Ventriculomeg... |
OMIM:235730 |
Hydranencephaly |
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Ventriculomegaly |
ORPHA:2177 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Loeys-Dietz Syndrome 1 |
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Hydrocephalus |
OMIM:609192 |
Cystinosis, Nephropathic |
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Male infertility, Male hypogonadism |
OMIM:219800 |
Lowe Oculocerebrorenal Syndrome |
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Cryptorchidism, Ventriculomegaly |
OMIM:309000 |
Primrose Syndrome |
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Anteverted nares, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip, Bilate... |
OMIM:259050 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Hydrocephalus, Sinusitis |
ORPHA:363700 |
Alström Syndrome |
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Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... |
ORPHA:64 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Choanal stenosis, Vent... |
OMIM:308205 |
Loeys-Dietz Syndrome 2 |
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Hydrocephalus, Spontaneous pneumothorax |
OMIM:610168 |
Microphthalmia, Syndromic 6 |
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Cryptorchidism, Small scrotum, Female hypogonadism, Ventriculomegaly |
OMIM:607932 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Hydrocephalus |
OMIM:164210 |