Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 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 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 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 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 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
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 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
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 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 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 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
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 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
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 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Ventriculomegaly |
OMIM:616570 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... |
OMIM:615297 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly |
OMIM:610023 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hip dysplasia, Hip dislocation, Talipes equinovarus |
ORPHA:250994 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Ventriculomegaly |
OMIM:602501 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Acalvaria |
|
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Hartsfield Syndrome |
|
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia |
ORPHA:2117 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Toe syndactyly, Single transverse palmar crease, Sandal gap, Capitate-hamate fusion... |
OMIM:206920 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Small hand |
OMIM:300884 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad... |
OMIM:136760 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Pierpont Syndrome |
|
Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Ventriculo... |
ORPHA:487825 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... |
OMIM:611134 |
Congenital Hydrocephalus |
|
Hydrocephalus, Macular hypoplasia, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia |
OMIM:615771 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly |
ORPHA:1777 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... |
OMIM:613885 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Abnormal pelvic girdle bone morphology, Tali... |
OMIM:157900 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Aplasia/Hypoplasia affecting the eye, Shor... |
ORPHA:1914 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Edinburgh Malformation Syndrome |
|
Long fingers, Hydrocephalus, Ulnar deviation of finger, Aplasia/Hypoplasia affecting the eye, Sle... |
ORPHA:1895 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Dandy-Walker mal... |
OMIM:164180 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus, Ventriculomegaly |
OMIM:617255 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t... |
ORPHA:2635 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb |
ORPHA:2181 |
Diencephalic Syndrome |
|
Large hands, Hydrocephalus |
ORPHA:1672 |
Pierpont Syndrome |
|
Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger... |
OMIM:602342 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus |
OMIM:312190 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty... |
OMIM:617866 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly |
OMIM:602361 |
Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Adducted thumb |
ORPHA:275543 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Lateral ventricle dilatatio... |
OMIM:618914 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Cubitus valgus, Hydrocephalus, Short 4th metacarpal |
ORPHA:2183 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Enlarged sylvian cistern, Overlapping toe |
OMIM:600118 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Ventriculomegaly |
ORPHA:48431 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb |
OMIM:617244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... |
OMIM:614219 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus |
ORPHA:83473 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Clinodactyly, Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:1466 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Aase-Smith Syndrome I |
|
Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation |
OMIM:147800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:613155 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb |
OMIM:276950 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr... |
OMIM:224400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cubitus valgus, Microphthalmia, Down-sloping shoulders, Camptodactyly |
OMIM:619694 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge... |
OMIM:615630 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Hydrocephalus |
ORPHA:1516 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo... |
ORPHA:2655 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent... |
ORPHA:93274 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:618174 |
Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Ventriculomegaly, Brachydactyly |
OMIM:218340 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Temple Syndrome |
|
Clinodactyly of the 5th finger, Hydrocephalus, Small hand, Short foot |
ORPHA:254516 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V... |
OMIM:616362 |
Muenke Syndrome |
|
Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis |
ORPHA:53271 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, ... |
OMIM:214150 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Short tibia, Humeroradial synostosi... |
OMIM:251230 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Ventriculomegaly, Bilateral sing... |
OMIM:618804 |
Bresek Syndrome |
|
Microphthalmia, Postaxial hand polydactyly, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:85284 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly |
OMIM:109120 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... |
ORPHA:1908 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of u... |
ORPHA:163649 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventriculomegaly |
OMIM:613730 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Short metacarpal, Ventriculomegaly, Metatarsus adductus, Slender ulna, ... |
OMIM:212720 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... |
ORPHA:974 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis... |
OMIM:610758 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly, Abnormally large globe |
OMIM:603387 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu... |
ORPHA:59315 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hydrocephalus, Radioulnar synostosis, Short palm |
ORPHA:171839 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnorm... |
ORPHA:53 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Oculofaciocardiodental Syndrome |
|
Cubitus valgus, Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, Flexion cont... |
ORPHA:2712 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Ventriculomegaly |
OMIM:308350 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Talipes equinovarus, Camp... |
OMIM:617822 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom... |
ORPHA:60040 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap |
OMIM:300887 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... |
ORPHA:139471 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenital pseudoarth... |
ORPHA:435638 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology |
ORPHA:93262 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly |
ORPHA:2770 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Sandal gap, Tapered finger |
ORPHA:1438 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Acro-Renal-Ocular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... |
ORPHA:959 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Single transverse palmar crease, Increased CSF lactate |
OMIM:619053 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Ventriculomegaly |
OMIM:614583 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Hydrocephalus |
OMIM:300558 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... |
OMIM:100800 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Increased CSF protein concentration |
ORPHA:209956 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Lateral ventricle dilatation, Broad hallux, Single transverse palmar crease |
OMIM:614105 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Bilateral microphthalmos |
ORPHA:77299 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus |
ORPHA:1861 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Metaphyseal irregularity |
OMIM:269920 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
Temple Syndrome |
|
Short foot, Clinodactyly, Small hand, Hydrocephalus |
OMIM:616222 |
Trisomy 1Q |
|
Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... |
ORPHA:261344 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,... |
ORPHA:1865 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
Monosomy 18P |
|
Microphthalmia, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microph... |
ORPHA:370959 |
Triploidy |
|
Finger syndactyly, Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia affecting th... |
ORPHA:3376 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Talipes equino... |
ORPHA:250989 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Colpocephaly, Microp... |
OMIM:609053 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot |
OMIM:610756 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Sandal gap, Brachydactyly |
ORPHA:2180 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Gorlin Syndrome |
|
Palmar pits, Hydrocephalus, Arachnodactyly, Brachydactyly |
ORPHA:377 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Microphthalmia, Dandy-Walker ma... |
OMIM:614424 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology |
ORPHA:290 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse... |
OMIM:619135 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... |
ORPHA:3378 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane... |
OMIM:619148 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle... |
OMIM:302960 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ... |
OMIM:619951 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Acetabular dysplasia, Ventricu... |
OMIM:619833 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Abnormally large globe, Broad distal pha... |
OMIM:245600 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse palmar crease, Deviati... |
ORPHA:464738 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses,... |
OMIM:618162 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Arachnodactyly, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Talipes equinovarus, Microphthalm... |
OMIM:612530 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly |
OMIM:618727 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... |
ORPHA:391474 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, Overlapping toe, Hip dysplasia, Prominent fingertip pads, Microphthalmia |
OMIM:618494 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... |
OMIM:613776 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Short palm, Microphthalmia, Ventriculomegaly |
OMIM:241410 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Postaxial foot poly... |
OMIM:264480 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly |
OMIM:219730 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Micro... |
OMIM:244300 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Duplication of phalanx of hallux, Ventriculomegaly |
OMIM:243310 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Anophthalmia, Hydrocephalus, Metatarsus valgus, Microphthalmia, Dandy-Walker ma... |
ORPHA:899 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Abnormally large globe, Short toe, Hydrocephalus, Delayed ossification of carpal ... |
OMIM:239300 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... |
OMIM:207410 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Marden-Walker Syndrome |
|
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ... |
OMIM:248700 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac... |
OMIM:619320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal... |
OMIM:614643 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly |
OMIM:620156 |
Joubert Syndrome 37 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Ventriculomegaly |
OMIM:120200 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5... |
OMIM:612582 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Ventriculomegaly |
OMIM:272200 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly |
OMIM:314390 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Small hand, 3-... |
OMIM:257850 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... |
ORPHA:3412 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cubitus valgus, Narrow palm, Slend... |
ORPHA:193 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Hip dysplasia, Ventriculomegaly |
ORPHA:494344 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ... |
OMIM:101800 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Absent thumb, Hydrocephalus, Bilateral radial aplasia, Ventriculomegaly |
OMIM:300514 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Hydrocephalus, Dandy-Walker malformation, Drumstick terminal phalanges |
OMIM:612938 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial poly... |
OMIM:616300 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
OMIM:615219 |
3C Syndrome |
|
Finger syndactyly, Ventriculomegaly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morpholog... |
ORPHA:7 |
Refsum Disease |
|
Abnormal epiphysis morphology, Microphthalmia, Short metacarpal, Hammertoe |
ORPHA:773 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Spi... |
ORPHA:99776 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis |
ORPHA:3301 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Diabetic Embryopathy |
|
Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism |
ORPHA:1926 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Abnormality of the palmar creases |
OMIM:618652 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... |
ORPHA:2092 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2-3 toe syndacty... |
ORPHA:401973 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Hydrocephalus, Flare... |
OMIM:616007 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Heart And Brain Malformation Syndrome |
|
Hand clenching, Microphthalmia, Camptodactyly of finger, Dandy-Walker malformation |
OMIM:616920 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... |
ORPHA:2538 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p... |
OMIM:612284 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinovarus, Clinodactyly of ... |
ORPHA:3309 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ... |
ORPHA:95699 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of toe |
ORPHA:251038 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia, Ventriculomegaly |
OMIM:614222 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Ventriculomegaly |
OMIM:614576 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ... |
ORPHA:459061 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Anencephaly, Broad palm, Shor... |
OMIM:269860 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... |
OMIM:608091 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Clinodactyly |
ORPHA:369891 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Erlenmeyer flask def... |
OMIM:618476 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620157 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o... |
ORPHA:3186 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... |
ORPHA:564 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Abnormality of the hand, Overlapping toe, Spina bifida, Pre... |
ORPHA:508498 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe |
OMIM:614225 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... |
OMIM:620098 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads |
OMIM:612863 |
Pentalogy Of Cantrell |
|
Encephalocele, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasia/Hypopla... |
ORPHA:1335 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers |
ORPHA:335 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly |
ORPHA:238769 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Single transverse palmar crease, Ventriculomegaly, 2-3 toe syndactyly |
OMIM:616449 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Pos... |
OMIM:605627 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Microphthalmia, Lenz Type |
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Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... |
ORPHA:568 |
Mend Syndrome |
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Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Macular hypoplasi... |
OMIM:300960 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:2318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly |
OMIM:613150 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:617306 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus, Brachydactyly |
ORPHA:2075 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Flared metaphysis, Femur fracture, Coxa vara |
OMIM:259700 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Diaphyseal sclerosis, Genu valgum |
OMIM:259710 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
Galloway-Mowat Syndrome 1 |
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Ventriculomegaly, Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Mic... |
OMIM:251300 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Opitz-Kaveggia Syndrome |
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Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand, Radial devi... |
OMIM:305450 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hydrocephalus, Polydactyly |
ORPHA:93400 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm |
ORPHA:268249 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
15Q Overgrowth Syndrome |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... |
ORPHA:314585 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Br... |
ORPHA:87 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly, Optic nerve hypoplasia |
OMIM:243605 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:228390 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:475 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Trisomy 18 |
|
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Deviation of fing... |
ORPHA:3380 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Small hand, Short foot, Hip dysplasia, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly... |
OMIM:601812 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Trisomy 17P |
|
Clinodactyly of the 5th finger, Hydrocephalus, Tapered finger |
ORPHA:261290 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Ventriculomegaly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Microme... |
OMIM:256520 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... |
ORPHA:284160 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod... |
ORPHA:457284 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Syndactyly, Bowing of the long bones, Occipital encephalocele, Ventricu... |
OMIM:249000 |
Emanuel Syndrome |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Sandal gap, Ventriculomegaly, Abnormal fibula morphology |
ORPHA:1812 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Hip dysplasia, Microphthal... |
OMIM:300895 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Hydrocephalus |
OMIM:612940 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hip dislocation, Camptodactyly, Microphthalmia, Ventriculomegaly |
OMIM:617729 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hydrocephalus, Broad thumb |
ORPHA:585 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Hydrocephalus, Congenital hip dislocation |
OMIM:104350 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Microphthalmia, Dandy-Walker malformation |
OMIM:156610 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:220493 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia... |
ORPHA:536467 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Tapered finger |
ORPHA:2836 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease |
OMIM:614230 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Metata... |
ORPHA:235 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Jacobsen Syndrome |
|
Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th finger, Microphthal... |
OMIM:147791 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Abnormal metaphysis morphology, Bowing of the l... |
ORPHA:2050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Overlapping fingers |
OMIM:617053 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa |
OMIM:616482 |
Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Polydactyly, Microphthalmia, Ventriculomegaly |
ORPHA:77301 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly |
ORPHA:220497 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia |
OMIM:603467 |
Mucopolysaccharidosis, Type Vii |
|
Metatarsus adductus, Hydrocephalus, Genu valgum, Narrow greater sciatic notch, Talipes equinovaru... |
OMIM:253220 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... |
ORPHA:84 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Hydrocephalus, Genu valgum, Talipes eq... |
OMIM:182212 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventric... |
ORPHA:300570 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... |
ORPHA:1236 |
Emanuel Syndrome |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:96170 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Communicating hydrocephalus |
ORPHA:1064 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly |
ORPHA:65285 |
47,Xyy Syndrome |
|
Finger clinodactyly, Hydrocephalus |
ORPHA:8 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Meningoencephalocele, Hydrocep... |
OMIM:236670 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Clubbing, Ventriculomegaly |
ORPHA:244 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Microphthalmia |
ORPHA:2166 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Narrow iliac wing |
OMIM:616294 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Distal Triplication 15Q |
|
Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly |
ORPHA:314588 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum, Cervical myel... |
OMIM:253200 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Fryns Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly, Shor... |
ORPHA:2059 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Hydrocephalus, Flared iliac win... |
OMIM:607014 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Overlapping toe |
OMIM:618571 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia |
OMIM:614083 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Single transverse palmar crease, Ventriculomegaly |
OMIM:614969 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Tapered finger |
OMIM:613603 |
Marshall-Smith Syndrome |
|
Hallux valgus, Optic nerve hypoplasia, Bullet-shaped middle phalanges of the hand, Hydrocephalus,... |
OMIM:602535 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Hydrocephalus, 2-3 toe syn... |
ORPHA:163979 |
Oculodentodigital Dysplasia |
|
Cubitus valgus, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Shor... |
OMIM:164200 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Hydrocephalus |
ORPHA:1834 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger |
ORPHA:65286 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus, Abnormal fin... |
ORPHA:2658 |
Cerebral Visual Impairment |
|
Hydrocephalus, Optic nerve hypoplasia |
ORPHA:447788 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephal... |
OMIM:610829 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Ventriculomegaly |
OMIM:610651 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Hydrocephalus, Osteopathia striata, Spina bifida occulta, Fibular hypoplasia, Tal... |
OMIM:300373 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Single transverse palmar crease |
ORPHA:2409 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po... |
OMIM:107480 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Hand polydactyly, Holoprosencephal... |
ORPHA:2162 |
Myhre Syndrome |
|
Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin... |
OMIM:139210 |
Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Desmosterolosis |
|
Metatarsus adductus, Hydrocephalus, Ventriculomegaly, Micromelia |
ORPHA:35107 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contr... |
OMIM:620351 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Split hand, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal ... |
ORPHA:579 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph... |
OMIM:236680 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Fra... |
OMIM:618188 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Abnormal palmar dermatoglyphics |
ORPHA:2728 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopla... |
OMIM:617925 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Monosomy 18Q |
|
Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Hydrocephalus, Talipes equinovarus |
ORPHA:1600 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Hydrocephalus, Palmoplantar cutis laxa, Limited elbow extension, Ventriculomegaly |
OMIM:123790 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Upper limb asymmetry |
ORPHA:2505 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... |
ORPHA:306542 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Bilateral talipes equinovarus, Joint contracture of the hand, Ventricu... |
OMIM:602398 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227645 |
Hurler Syndrome |
|
Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Narrow pelvis bone, Abnormal di... |
ORPHA:93473 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Reduced arm span, Campt... |
ORPHA:1272 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Hip dislocation, Holoprosencephaly, Clinodactyl... |
OMIM:613884 |
Baller-Gerold Syndrome |
|
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Optic n... |
OMIM:218600 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... |
ORPHA:2462 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Split hand |
OMIM:309900 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... |
ORPHA:364577 |
Orofaciodigital Syndrome I |
|
Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing... |
OMIM:311200 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Rabin-Pappas Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620155 |
Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ... |
ORPHA:2563 |
Oculo-Palato-Cerebral Syndrome |
|
Short foot, Microphthalmia, Small hand |
ORPHA:2714 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lateral ventricle dilatation |
OMIM:300952 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm,... |
OMIM:268400 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn... |
OMIM:300166 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Slender long bone, Hydrocephalus |
OMIM:618590 |
Aicardi Syndrome |
|
Spina bifida, Proximal placement of thumb, Choroid plexus cyst, Lateral ventricle dilatation, Mic... |
OMIM:304050 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Hydrocephalus, Deep palmar crease, Clinodactyly of the 5... |
OMIM:115150 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:2612 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ventriculomegaly, Abnormality of the upper limb, Holoprosencephaly, Clinodactyly of the 5th finge... |
ORPHA:1052 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Colpocephaly |
OMIM:309801 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus |
OMIM:619377 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Hydrocephalus, Palmoplantar keratoderma |
ORPHA:1555 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Aqueductal stenosis, Long fingers, Hydrocephalus, Bilateral talipes e... |
OMIM:619512 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Hydrocephalus, Long hallux, Brachydactyly |
OMIM:259775 |
Smith-Lemli-Opitz Syndrome |
|
Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, Short thumb, 2-3 t... |
OMIM:270400 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Short finger, Microphthalmia, Cubitus valgus |
OMIM:601552 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Hydrocephalus, Genu valgum, Deep palmar crease, Palmoplantar keratod... |
ORPHA:1340 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea... |
OMIM:607932 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Ca... |
OMIM:229850 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia |
OMIM:234100 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus |
ORPHA:1454 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Flared metaphysis, Hip subluxation, Ventriculomegaly |
OMIM:259720 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Ventriculomegaly, Brachydactyly |
OMIM:100300 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia |
OMIM:613451 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Short sternum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
Osteogenesis Imperfecta |
|
Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Fractures of the long bone... |
ORPHA:666 |
Atelis Syndrome 2 |
|
Microphthalmia, Clinodactyly, Single transverse palmar crease |
OMIM:620185 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux... |
OMIM:194190 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
H Syndrome |
|
Hallux valgus, Hydrocephalus, Camptodactyly |
ORPHA:168569 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Genu valgum,... |
OMIM:102500 |
Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal long bone morphology, Abno... |
ORPHA:228123 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Dubowitz Syndrome |
|
Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing... |
OMIM:223370 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... |
OMIM:219000 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia, Ventriculomegaly |
OMIM:616975 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Dextrocardia |
|
Hydrocephalus, Congenital hip dislocation |
ORPHA:1666 |
Aicardi Syndrome |
|
Microphthalmia, Hip dysplasia, Small hand, Ventriculomegaly |
ORPHA:50 |
Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bone, Normal ... |
OMIM:133540 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Femur fracture, Lateral ventricle dilatation |
OMIM:612301 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele |
OMIM:130720 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Hypoplastic pelvis |
OMIM:273395 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Long fingers, Hydrocephalus, Cubitus valgus, Ventriculomegaly |
ORPHA:96121 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi... |
ORPHA:468631 |
Neurooculorenal Syndrome |
|
Short hallux, Aqueductal stenosis, Hydrocephalus, Talipes equinovarus, Short 1st metacarpal, Vent... |
OMIM:620305 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh... |
OMIM:608670 |
Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Brachydactyly |
ORPHA:168577 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short toe, Hydroce... |
ORPHA:955 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Hydroc... |
OMIM:208150 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, Short thumb, Small ... |
OMIM:613406 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Bifid femur, Holoprosencephaly, Cli... |
ORPHA:138 |
Kabuki Syndrome |
|
Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short 5th finger, Ven... |
ORPHA:2322 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum |
OMIM:162200 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hydrocephalus, Congenital aphakia |
ORPHA:137675 |
Hallermann-Streiff Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Small hand, Short foot |
ORPHA:2108 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa... |
OMIM:612474 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Hand polyda... |
ORPHA:567 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosis |
ORPHA:2461 |
Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Microph... |
ORPHA:261112 |
Mucopolysaccharidosis Type 3 |
|
Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Genu valgum, Hip dysplasia, V... |
ORPHA:581 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Hip dysplasia, Small hand, Tapered finger |
OMIM:620005 |
Cat Eye Syndrome |
|
Absent radius, Microphthalmia |
OMIM:115470 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tapered finger, Hydrocephalus, Camptodactyly of toe |
ORPHA:261337 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Ventriculomegaly |
OMIM:253280 |
Degcags Syndrome |
|
Syndactyly, Ventriculomegaly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum... |
OMIM:619488 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus... |
ORPHA:363958 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly |
OMIM:617011 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... |
OMIM:610168 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Congenital hip dislocation, Short femur, Single transverse palmar crease, Optic nerve h... |
ORPHA:508488 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement... |
OMIM:261540 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Clubbing, Ventriculomegaly |
ORPHA:33364 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hip dislocation, Genu valgum, Buphthalmos, Abnormal epiphysis morphology, Microphthalmia, Abnorma... |
ORPHA:534 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Short fifth metatarsal, Short fourth metatars... |
OMIM:619841 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Deep palmar crease, Hydrocephalus |
ORPHA:505248 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:609192 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Hydrocephalus, Deep palmar crease, Absent distal phalanges, Microphthalmia, Short dis... |
OMIM:612289 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, 2-3 fing... |
OMIM:312870 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Genu valgum, Cortical thickening of long bone diaphyses, Bilateral t... |
ORPHA:309282 |
Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Ab... |
OMIM:214800 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Hypoplastic ilia, Long fingers, Hydrocephalus, Slender long... |
OMIM:264090 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmia, Ventriculomegaly |
ORPHA:141099 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Short long bone... |
OMIM:306955 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, Hydrocephalus, Genu valgum, Decreased CSF 5-methyltetrahydrofola... |
OMIM:619475 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... |
ORPHA:93325 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Bowing of the long ... |
ORPHA:667 |
Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Myelomeningocele, Microphthalmia,... |
ORPHA:2052 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Dandy-Walker malformation |
ORPHA:42775 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Clinodactyly, Broad hallux, Single transverse palmar crease |
OMIM:620186 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Optic nerve hypoplasia, Genu valgum |
OMIM:619321 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Cockayne Syndrome A |
|
Hip contracture, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Normal pressur... |
OMIM:216400 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Short toe, Hydrocephalus, Short foot, Clinodactyly of the... |
ORPHA:709 |
Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:861 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:2556 |
Renpenning Syndrome 1 |
|
Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx... |
OMIM:309500 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Short foot, Hip dysplasia, Lateral v... |
OMIM:607872 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Hydrocephalus, Deep palmar creas... |
OMIM:218040 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
Tetrasomy 9P |
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Hypoplastic scapulae, Hydrocephalus, Small hand, Small toe, Talipes equinovarus, Clinodactyly of ... |
ORPHA:3310 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus |
OMIM:616084 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of finger, Hypoplastic... |
ORPHA:3455 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2526 |
Craniopharyngioma |
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Hydrocephalus |
ORPHA:54595 |
Holoprosencephaly 2 |
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Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Neurofibromatosis Type 1 |
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Hydrocephalus, Genu valgum, Slender long bone, Abnormal hip bone morphology, Genu varum |
ORPHA:636 |
Split Cord Malformation |
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Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... |
ORPHA:573278 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Arachnodactyly, Ventriculomegaly |
ORPHA:457359 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hallux valgus, Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus |
ORPHA:137667 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Oeis Complex |
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Hydrocephalus, Myelomeningocele, Congenital hip dislocation, Talipes equinovarus |
OMIM:258040 |
Cryptococcosis |
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Hydrocephalus |
ORPHA:1546 |
Cockayne Syndrome Type 3 |
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Microphthalmia |
ORPHA:90324 |
Cockayne Syndrome |
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Microphthalmia, Abnormal epiphysis morphology |
ORPHA:191 |
Coffin-Siris Syndrome 12 |
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Short thumb, Slender finger, Noncommunicating hydrocephalus, Cutaneous syndactyly, Radioulnar syn... |
OMIM:619325 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Hydrocephalus |
OMIM:261740 |
Kabuki Syndrome 1 |
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Congenital hip dislocation, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatation, Short 5th... |
OMIM:147920 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus |
ORPHA:637 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle... |
OMIM:309800 |
Branchiooculofacial Syndrome |
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Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... |
OMIM:113620 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... |
ORPHA:261537 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Hip dislocation |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Hip dislocation |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Hip dislocation |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Hip dislocation |
ORPHA:220386 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Hydrocephalus, Narrow iliac wing |
ORPHA:3042 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Large hands, Abnormal tibia morphology, Hydrocephalus, Genu valgum |
ORPHA:363700 |
Meningioma |
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Hydrocephalus |
ORPHA:2495 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia |
OMIM:603457 |
Gaucher Disease |
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Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
Lymphangioleiomyomatosis |
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Hydrocephalus |
ORPHA:538 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, La... |
OMIM:619534 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C... |
ORPHA:2152 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... |
ORPHA:261552 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Hip dysplasia |
ORPHA:580 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
Tuberous Sclerosis Complex |
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Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Mowat-Wilson Syndrome |
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Microphthalmia, Ventriculomegaly |
OMIM:235730 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |