Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Pineocytoma |
|
Cognitive impairment, Hydrocephalus, Memory impairment, Increased CSF protein |
ORPHA:251912 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Cognitive impairment, Hydrocephalus |
ORPHA:2807 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Atypical Teratoid Rhabdoid Tumor |
|
Apathy, Irritability, Hydrocephalus |
ORPHA:99966 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Memory impairment |
ORPHA:1008 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Fried Syndrome |
|
Aggressive behavior, Hydrocephalus, Skeletal muscle atrophy |
ORPHA:85335 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Syringomyelia, Hydrocephalus, Mental deterio... |
OMIM:249400 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture |
OMIM:300884 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Ventriculomegaly, Muscular dystrophy, Hydrocephalus, Flexion contracture |
OMIM:613154 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Triceps weakness, Abnormality of the spinal cord, Quadriceps muscle weaknes... |
ORPHA:99947 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Self-injurious behavior, Ventriculomegaly, Hydrocephalus, Flexion cont... |
OMIM:304340 |
Papillary Tumor Of The Pineal Region |
|
Cognitive impairment, Hydrocephalus, Memory impairment, Increased CSF protein |
ORPHA:251915 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Anxiety, Hydrocephalus |
ORPHA:261102 |
Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Hydrocephalus |
ORPHA:1532 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... |
OMIM:609637 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Arthrogryposis multiplex congenita |
ORPHA:250994 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:617281 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Abnormality of the diaphragm |
OMIM:183802 |
Muscle-Eye-Brain Disease |
|
Meningocele, Myopathy, Holoprosencephaly, Cognitive impairment, Hydrocephalus |
ORPHA:588 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Myopathy, Ventriculomegaly, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Hydrocep... |
ORPHA:272 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Cognitive impairment, Male infertility, Azoospermia |
ORPHA:276183 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:141333 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Limb muscle weakness, Syringomyelia, Cervical myelopathy, Spina bifida, Hydroce... |
OMIM:207950 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Hypogonadotropic hypogonadism, Cognitive impairment, Abnormality of the ... |
ORPHA:494 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Hemangioblastoma |
|
Upper limb muscle weakness, Hydrocephalus, Lower limb muscle weakness, Spinal hemangioblastoma |
ORPHA:252054 |
Nasu-Hakola Disease |
|
Frontal lobe dementia, Ventriculomegaly, Irritability, Hydrocephalus, Memory impairment |
ORPHA:2770 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Left ventricular hypertrophy, Muscular dystrophy, Hy... |
OMIM:613153 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Congenital Toxoplasmosis |
|
Cognitive impairment, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Cognitive impairment, Hydrocephalus |
OMIM:615181 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Syringomyelia, Ventriculomegaly, Emotional lability, Hydrocephalus... |
ORPHA:1136 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Aggressive behavior, Hydrocephalus |
OMIM:300558 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Joint contracture of the hand, Ventriculomegaly, Hydrocephalus,... |
OMIM:175700 |
Mental Retardation, Autosomal Dominant 35 |
|
Facial hypotonia, Congenital muscular torticollis, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:380 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Flexion contracture |
OMIM:225790 |
Krabbe Disease |
|
Motor deterioration, Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Temple Syndrome |
|
Hydrocephalus, Flexion contracture |
OMIM:616222 |
Hydrocephalus, Normal-Pressure, 1 |
|
Dementia, Normal pressure hydrocephalus |
OMIM:236690 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:300864 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Skeletal muscle hypertrophy, Dilated fourth ventricle, Macroglossia, Reduced muscle fiber alpha d... |
ORPHA:370959 |
Arachnoid Cyst |
|
Holoprosencephaly, Facial palsy, Social and occupational deterioration, Spinal cord compression, ... |
ORPHA:2356 |
Craniofacial Dyssynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Muscular dystrophy, Hydrocephalus |
OMIM:615287 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormality of the spinal cord, Distal amyotrophy |
ORPHA:139578 |
Amelocerebrohypohidrotic Syndrome |
|
Mental deterioration, Dementia, Hydrocephalus |
ORPHA:1946 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus |
ORPHA:352682 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
L1 Syndrome |
|
Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis |
ORPHA:275543 |
Chromosome 17P13.1 Deletion Syndrome |
|
Knee flexion contracture, Hydrocephalus, Elbow flexion contracture |
OMIM:613776 |
Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Cognitive impairment, Hydrocephalus, Ventriculomegaly |
ORPHA:93274 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1528 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycorrhachia, Cognitive impairment, Progressive neurologic deterioration, Left ventricular ... |
ORPHA:90065 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus |
OMIM:220220 |
Lissencephaly 5 |
|
Hydrocephalus |
OMIM:615191 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:163961 |
Mental Retardation, Autosomal Dominant 36 |
|
Facial hypotonia, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
Metatropic Dysplasia |
|
Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Hydrocephalus |
OMIM:601794 |
Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Diaphragmatic eventration, Hydrocephalus, Flexion contracture |
OMIM:310400 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cognitive impairment, Ventriculomegaly, Atrophy of the spinal cord, Hydrocephalus, Mental deterio... |
ORPHA:395 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
Adrenomyeloneuropathy |
|
Male sexual dysfunction, Cognitive impairment, Abnormality of the spinal cord, Dorsal column dege... |
ORPHA:139399 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Irritability, Hydrocephalus |
OMIM:614424 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Aplasia of the left hemidiaphragm, Spina bifida, Hydrocephalus, Posterolateral ... |
ORPHA:2437 |
Mental Retardation, Buenos Aires Type |
|
Hydrocephalus |
OMIM:249630 |
Hydrocephalus, Congenital Communicating, 1 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism |
ORPHA:1908 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Absent extraocular muscles, Ventriculomegaly |
OMIM:109120 |
Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Hydrocephalus, Flexion contracture |
OMIM:147800 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Congenital diaphragm... |
ORPHA:63259 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Infertility, Congenital diaphragmatic hernia, Ventriculomegaly, Hypogo... |
ORPHA:96170 |
Williams-Beuren Region Duplication Syndrome |
|
Anxiety, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Infertility, Amenorrhea, Abnormality of the menstrual cycle, Decreased female libid... |
ORPHA:91348 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Skin-picking, Aggressive behavior, Ventriculomegaly, Hypogonadism, Hydro... |
ORPHA:500055 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Hydrocephalus, Ventriculomegaly |
OMIM:618476 |
Dural Sinus Malformation |
|
Dementia, Myelopathy, Apathy, Hydrocephalus, Mental deterioration |
ORPHA:97339 |
Mend Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:300960 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus |
OMIM:241800 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Macroglossia |
ORPHA:3376 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Skeletal muscle atrophy |
ORPHA:31 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Alkuraya-Kucinskas Syndrome |
|
Camptodactyly, Hydrocephalus, Arthrogryposis multiplex congenita, Ventriculomegaly |
OMIM:617822 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
47,Xyy Syndrome |
|
Oligospermia, Hydrocephalus, Male infertility, Azoospermia |
ORPHA:8 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:377 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus |
OMIM:614195 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Anxiety, Hydrocephalus, Camptodactyly |
ORPHA:459061 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:1647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Muscular dystrophy, Hydrocephalus, Flexion contracture |
OMIM:615249 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Hydrocephalus, Anencephaly |
OMIM:611134 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Aggressive behavior, Facial hypotonia, Noncommunicating hydrocephalus |
OMIM:619320 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Ventriculomegaly, Female infertility, Hydrocephalus, Male infertility |
ORPHA:244 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Walker-Warburg Syndrome |
|
Dandy-Walker malformation, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle... |
ORPHA:899 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Albers-Schönberg Osteopetrosis |
|
Facial palsy, Hydrocephalus |
ORPHA:53 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Hamstring contractures, Abnormality of the spinal cord, Male hypogonadism, Mental det... |
ORPHA:139396 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Ventriculomegaly, Muscular dystrophy, Hydrocephalus, I... |
OMIM:613150 |
Crouzon Disease |
|
Hydrocephalus |
ORPHA:207 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Tenorio Syndrome |
|
Macroglossia, Anxiety, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Solitary Bone Cyst |
|
Abnormality of the spinal cord, Muscular edema |
ORPHA:83468 |
Multiple Sulfatase Deficiency |
|
Rapid neurologic deterioration, Hydrocephalus, Increased CSF protein, Ventriculomegaly |
OMIM:272200 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Acute Disseminated Encephalomyelitis |
|
Aggressive behavior, Abnormality of the spinal cord, CSF lymphocytic pleiocytosis, Irritability, ... |
ORPHA:83597 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:220210 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Hydrocephalus, Flexion contracture, Cervical cord compression |
OMIM:309900 |
Medulloblastoma |
|
Spinal cord tumor, Cognitive impairment, Irritability, Hydrocephalus |
ORPHA:616 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Lower limb hypertonia, Ventriculomegaly |
ORPHA:2169 |
Superficial Siderosis |
|
Dementia, Abnormality of the cerebrospinal fluid, Cognitive impairment, Abnormality of the spinal... |
ORPHA:247245 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Dandy-Walker malformation, Macroglossia, Hydrocephalus |
OMIM:612938 |
Distal Tetrasomy 15Q |
|
Dandy-Walker malformation, Syringomyelia, Hydrocephalus, Flexion contracture, Camptodactyly |
ORPHA:314588 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:276950 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus |
OMIM:220219 |
Peho Syndrome |
|
Hydrocephalus, Arthrogryposis multiplex congenita, Flexion contracture, Ventriculomegaly |
ORPHA:2836 |
Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Asymmetric ventricles, Dural ectasia, Hydrocephalus |
OMIM:616914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Neurofibromatosis Type 2 |
|
Myelopathy, Wrist drop, Facial palsy, Hydrocephalus, Spinal cord tumor, Foot dorsiflexor weakness... |
ORPHA:637 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
Hydrolethalus |
|
Arrhinencephaly, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Trisomy 17P |
|
Macroglossia, Hydrocephalus, Skeletal muscle atrophy, Flexion contracture |
ORPHA:261290 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly, Camptodactyly of finger |
ORPHA:2839 |
3C Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:7 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:2409 |
Whipple Disease |
|
Hydrocephalus, Erectile dysfunction, Myositis |
ORPHA:3452 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:1834 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Hydrocephalus, Hypergonadotropic hypogonadism, Ventriculomegaly |
OMIM:300514 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Holoprosencephaly, Congenital muscular dystrophy, Hydrocephalus, Calf mu... |
OMIM:253800 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormality of the spinal cord |
ORPHA:53721 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:2075 |
Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Cervical myelopathy, Hydrocephalus |
OMIM:253200 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Popov-Chang syndrome |
|
Self-injurious behavior, Hydrocephalus |
OMIM:618428 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Rhabdomyosarcoma |
ORPHA:626 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:79332 |
Trisomy 1Q |
|
Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly of finger, Ventriculomegaly |
ORPHA:261344 |
Osteopetrosis, Autosomal Recessive 1 |
|
Facial palsy, Facial paralysis, Hydrocephalus |
OMIM:259700 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Spontaneous abortion, Hydrocephalus, Flexion contracture |
ORPHA:1865 |
Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607361 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Rapid neurologic deterioration |
ORPHA:585 |
Hurler Syndrome |
|
Hydrocephalus, Progressive neurologic deterioration, Flexion contracture |
OMIM:607014 |
Griscelli Syndrome |
|
Hydrocephalus |
ORPHA:381 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dementia, Cognitive impairment, Subependymal nodules, Ventriculomegaly |
ORPHA:25 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly |
OMIM:617866 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Tetrasomy 5P |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus |
ORPHA:3309 |
Meningioma |
|
Amenorrhea, Hypogonadotropic hypogonadism, Cognitive impairment, Facial palsy, Emotional lability... |
ORPHA:2495 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Meckel Syndrome, Type 6 |
|
Hydrocephalus, Anencephaly |
OMIM:612284 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:612582 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Cryptococcosis |
|
Limb muscle weakness, Prostatitis, Hydrocephalus, Mental deterioration, Memory impairment |
ORPHA:1546 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Congenital diaphragmatic hernia, Aggressive behavior, Ventriculomegaly, ... |
ORPHA:96121 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Hydrocephalus, Ventriculomegaly |
ORPHA:93932 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Holoprosencephaly |
|
Dandy-Walker malformation, Holoprosencephaly, Congenital diaphragmatic hernia, Cognitive impairme... |
ORPHA:2162 |
Cousin Syndrome |
|
Hydranencephaly, Joint contracture of the hand, Wrist flexion contracture, Hydrocephalus, Camptod... |
OMIM:260660 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Torticollis, Emotional lability, Dilation of lateral ventricles, C... |
ORPHA:300570 |
15Q Overgrowth Syndrome |
|
Dandy-Walker malformation, Syringomyelia, Contracture of the proximal interphalangeal joint of th... |
ORPHA:314585 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:612863 |
H Syndrome |
|
Amenorrhea, Azoospermia, Hypogonadism, Hydrocephalus, Camptodactyly |
ORPHA:168569 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus |
OMIM:314390 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility |
OMIM:244400 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:224400 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Alexander Disease |
|
Self-injurious behavior, Facial palsy, Emotional lability, Hydrocephalus, Aqueductal stenosis |
ORPHA:58 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dementia, Atrophy of the spinal cord, Hydrocephalus, Mental deterioration, Memory impairment |
ORPHA:79282 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Muscular dystrophy, Hydrocephalus, Ventriculomegaly |
OMIM:614643 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Hydrocephalus, Flexion contracture |
OMIM:253220 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Camptodactyly |
OMIM:207410 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Self-injurious behavior, Hydrocephalus, Dilation of lateral ventricles, ... |
OMIM:619575 |
Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:612651 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis, Hydrocephalus |
ORPHA:157 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, Hydrocephalus, Elbow flexion contracture |
OMIM:618162 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Congenital diaphragmatic hernia, Hydrocephalus, Chordee |
OMIM:309801 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
OMIM:273730 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus |
OMIM:259720 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
OMIM:313850 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus |
ORPHA:2318 |
Limb Body Wall Complex |
|
Anencephaly, Myelomeningocele, Congenital diaphragmatic hernia, Abnormality of the spinal cord, D... |
ORPHA:2369 |
Mucopolysaccharidosis Type 3 |
|
Dementia, Macroglossia, Aggressive behavior, Progressive neurologic deterioration, Ventriculomega... |
ORPHA:581 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus |
ORPHA:220497 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Joubert Syndrome |
|
Hydrocephalus |
ORPHA:475 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypogonadism, Irregular menstruation, Hydrocephalus |
OMIM:101800 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
OMIM:616546 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Flexion contracture of finger, Abnormality of the spinal cord, Camptodactyly |
ORPHA:88628 |
Adams-Oliver Syndrome |
|
Hydrocephalus |
ORPHA:974 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Cognitive impairment, CSF lymphocytic pleiocytosis, Hypoglycorrhachia,... |
ORPHA:228123 |
Desmosterolosis |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Joint contracture of the hand, Ventriculomegaly |
OMIM:602398 |
Icf Syndrome |
|
Macroglossia, Communicating hydrocephalus |
ORPHA:2268 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Arthrogryposis multiplex congenita, Hydrocephalus, Anxiety, Aqueductal s... |
OMIM:619512 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of the cerebrospinal fluid, Abnormality of the spinal cord, Facial palsy, CSF lymphoc... |
ORPHA:68 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:35107 |
Mirage Syndrome |
|
Hydrocephalus, Hypergonadotropic hypogonadism |
OMIM:617053 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Congenital diaphragmatic hernia, Hydrocephalus, Elbow flexion contr... |
OMIM:245600 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Dementia, Hydrocephalus |
OMIM:277400 |
Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Congenital muscular dystrophy, Ventriculomegaly, Hydrocephalus, Congen... |
OMIM:236670 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Macroglossia, Aggressive behavior, Cognitive impairment, Progressive... |
ORPHA:580 |
Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Facial palsy, Joint contracture of the hand, Hydrocephalus, Camptodac... |
OMIM:300373 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Myelomeningocele, Camptodactyly of finger |
ORPHA:90652 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Pseudotrisomy 13 Syndrome |
|
Holoprosencephaly, Hydrocephalus |
OMIM:264480 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Myopathy, Male infertility, Hypogonadism |
ORPHA:85450 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Plasminogen Deficiency, Type I |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:217090 |
Joubert Syndrome 2 |
|
Hydrocephalus, Enlarged fossa interpeduncularis |
OMIM:608091 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Raine Syndrome |
|
Hydrocephalus, Arthrogryposis multiplex congenita |
OMIM:259775 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:613001 |
Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Abnormal tendon morphology |
ORPHA:579 |
Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atrophy, Arthrogryposis mu... |
ORPHA:2461 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
Familial Lambdoid Synostosis |
|
Hydrocephalus |
ORPHA:3267 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:305450 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1780 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
Hurler Syndrome |
|
Macroglossia, Hydrocephalus, Camptodactyly of finger |
ORPHA:93473 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:182212 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly |
OMIM:257300 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Hydrocephalus, Flexion contracture |
ORPHA:505248 |
Campomelic Dysplasia |
|
Hydrocephalus |
OMIM:114290 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Dural ectasia, Spina bifida, Hydrocephalus, Anxiety, Hand muscle atrophy |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Dural ectasia, Spina bifida, Hydrocephalus, Anxiety, Hand muscle atrophy |
ORPHA:363958 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hydrocephalus, Primary amenorrhea, Flexion contracture, Camptodactyly, Elbow flexio... |
ORPHA:95699 |
Stromme Syndrome |
|
Myopathy, Hydrocephalus |
OMIM:243605 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:268249 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Rhabdomyosarcoma, Ventriculomegaly |
ORPHA:77301 |
Jacobsen Syndrome |
|
Holoprosencephaly, Hydrocephalus, Flexion contracture |
OMIM:147791 |
Mend Syndrome |
|
Dandy-Walker malformation, Aggressive behavior, Hydrocephalus, Limb hypertonia |
ORPHA:401973 |
Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:101200 |
Split Cord Malformation |
|
Meningocele, Hydromyelia, Myelomeningocele, Spinal cord tumor, Syringomyelia, Hydrocephalus, Cerv... |
ORPHA:573278 |
Fanconi Anemia |
|
Azoospermia, Ventriculomegaly, Hypogonadism, Spina bifida, Hydrocephalus, Decreased fertility in ... |
ORPHA:84 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus |
ORPHA:1064 |
1Q21.1 Microdeletion Syndrome |
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Anxiety, Hydrocephalus |
ORPHA:250989 |
Orofaciodigital Syndrome I |
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Hydrocephalus, Myelomeningocele |
OMIM:311200 |
Neurofibromatosis, Type I |
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Spina bifida, Hydrocephalus, Rhabdomyosarcoma, Aqueductal stenosis |
OMIM:162200 |
Craniopharyngioma |
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Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:54595 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Violent behavior, Torticollis, Suicidal ideation, Cognitive impairment, Aggressive behavior, Decr... |
OMIM:619475 |
Basal Cell Nevus Syndrome |
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Spina bifida, Hydrocephalus |
OMIM:109400 |
Joubert Syndrome With Hepatic Defect |
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Hydrocephalus |
ORPHA:1454 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Laurin-Sandrow Syndrome |
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Hydrocephalus |
ORPHA:2378 |
Short-Rib Thoracic Dysplasia 12 |
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Holoprosencephaly, Hydrocephalus, Anencephaly |
OMIM:269860 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Acrofacial Dysostosis 1, Nager Type |
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Hydrocephalus, Aqueductal stenosis |
OMIM:154400 |
Dubowitz Syndrome |
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Spina bifida occulta, Hydrocephalus |
ORPHA:235 |
Mohr Syndrome |
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Hydrocephalus |
OMIM:252100 |
Cardiofaciocutaneous Syndrome |
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Hydrocephalus |
ORPHA:1340 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Primary amenorrhea |
ORPHA:99429 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly |
OMIM:610828 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly ... |
ORPHA:2462 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Myopathy, Macroglossia, Facial hypotonia, Anxiety |
ORPHA:309282 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Facial hypotonia, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
Capillary Malformation-Arteriovenous Malformation |
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Abnormality of the musculature of the limbs, Hydrocephalus |
ORPHA:137667 |
Monosomy 18Q |
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Hydrocephalus |
ORPHA:1600 |
Otopalatodigital Syndrome, Type Ii |
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Hydrocephalus |
OMIM:304120 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Torticollis, Hydrocephalus, Multiple joint contractures |
ORPHA:536467 |
Dextrocardia |
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Hydrocephalus |
ORPHA:1666 |
Semilobar Holoprosencephaly |
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Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Apathy, Irritability, Hydrocephalus, Flexion contracture, Anxiety |
ORPHA:93924 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Myopathy, Hip contracture, Hypogonadism, Hydrocephalus, Flexion contracture |
ORPHA:3042 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
22Q11.2 Deletion Syndrome |
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Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus, Anxiety |
ORPHA:567 |
Hajdu-Cheney Syndrome |
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Hydrocephalus, Syringomyelia |
ORPHA:955 |
Smith-Lemli-Opitz Syndrome |
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Dandy-Walker malformation, Holoprosencephaly, Aggressive behavior, Self-mutilation, Hydrocephalus |
OMIM:270400 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Hydrocephalus |
OMIM:104350 |
Trisomy 8P |
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Dandy-Walker malformation, Hydrocephalus, Multiple joint contractures |
ORPHA:264450 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus |
ORPHA:2050 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Hypergonadotropic hypogonadism |
OMIM:227646 |
Partial Androgen Insensitivity Syndrome |
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Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Tetrasomy 9P |
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Dandy-Walker malformation, Oligospermia, Infertility, Myositis, Abnormality of the spinal cord, H... |
ORPHA:3310 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Hydrocephalus |
ORPHA:220295 |
Hypoplasminogenemia |
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Dandy-Walker malformation, Hydrocephalus, Cervicitis |
ORPHA:722 |
Osteogenesis Imperfecta |
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Syringomyelia, Noncommunicating hydrocephalus, Ventriculomegaly, Hydrocephalus, Flexion contracture |
ORPHA:666 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hypogonadotropic hypogonadism, Hydrocephalus |
ORPHA:91350 |
Cockayne Syndrome A |
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Hypogonadism, Irregular menstruation, Normal pressure hydrocephalus, Dementia |
OMIM:216400 |
Sturge-Weber Syndrome |
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Hydrocephalus |
ORPHA:3205 |
Craniofacial Microsomia |
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Hydrocephalus, Hypoplasia of facial musculature |
OMIM:164210 |
Cystinosis, Nephropathic |
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Myopathy, Skeletal muscle atrophy, Progressive neurologic deterioration, Male hypogonadism, Male ... |
OMIM:219800 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Distal 22Q11.2 Microduplication Syndrome |
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Macroglossia, Hydrocephalus, Camptodactyly of toe, Camptodactyly of finger |
ORPHA:261337 |
Lymphangioleiomyomatosis |
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Cognitive impairment, Hydrocephalus |
ORPHA:538 |
Cerebrooculonasal Syndrome |
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Hydrocephalus |
OMIM:605627 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hypogonadism, Hydrocephalus, Facial palsy |
ORPHA:2658 |
Isotretinoin-Like Syndrome |
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Hydrocephalus |
ORPHA:2306 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Osteopetrosis, Autosomal Recessive 7 |
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Dilation of lateral ventricles, Hydrocephalus |
OMIM:612301 |
Meckel Syndrome |
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Dandy-Walker malformation, Lobar holoprosencephaly, Hydrocephalus, Anencephaly |
ORPHA:564 |
Meckel Syndrome, Type 1 |
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Dandy-Walker malformation, Hydrocephalus, Anencephaly |
OMIM:249000 |
Oeis Complex |
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Tethered cord, Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Fetal Akinesia Deformation Sequence 1 |
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Generalized amyotrophy, Hydrocephalus, Arthrogryposis multiplex congenita, Camptodactyly of finger |
OMIM:208150 |
Aromatase Deficiency |
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Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
Pseudoaminopterin Syndrome |
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Hydrocephalus, Posterolateral diaphragmatic hernia |
ORPHA:221120 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Wiedemann-Rautenstrauch Syndrome |
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Dandy-Walker malformation, Generalized amyotrophy, Hydrocephalus, Flexion contracture |
OMIM:264090 |
Gaucher Disease |
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Hydrocephalus, Arthrogryposis multiplex congenita, Ventriculomegaly |
ORPHA:355 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Holoprosencephaly, Hydrocephalus |
ORPHA:2166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Muscular dystrophy, Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Hajdu-Cheney Syndrome |
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Hydrocephalus |
OMIM:102500 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hydrocephalus |
ORPHA:163979 |
Bloom Syndrome |
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Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus |
OMIM:616084 |
Focal Dermal Hypoplasia |
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Myelomeningocele, Congenital diaphragmatic hernia, Diastasis recti, Hydrocephalus, Spina bifida o... |
OMIM:305600 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Azoospermia, Hydrocephalus, Ventriculomegaly |
ORPHA:2072 |
Wolf-Hirschhorn Syndrome |
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Tethered cord, Decreased muscle mass, Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Aggressive behavior, Noncommunicating hydrocephalus, Subependymal nodule... |
ORPHA:805 |
Primary Sjögren Syndrome |
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Dementia, Myositis, Abnormality of the spinal cord, Cognitive impairment, Anxiety |
ORPHA:289390 |
Costello Syndrome |
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Rhabdomyosarcoma, Macroglossia, Achilles tendon contracture, Ventriculomegaly, Hydrocephalus |
OMIM:218040 |
Knobloch Syndrome |
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Hydrocephalus |
ORPHA:1571 |
Tetraamelia Syndrome 1 |
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Hydrocephalus, Abnormality of the diaphragm |
OMIM:273395 |
Microphthalmia With Linear Skin Defects Syndrome |
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Congenital diaphragmatic hernia, Hydrocephalus |
ORPHA:2556 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hydrocephalus, Hypoplasia of the ovary, Flexion contracture |
OMIM:619321 |
Fontaine Progeroid Syndrome |
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Left ventricular hypertrophy, Hypoplasia of the abdominal wall musculature, Hydrocephalus |
OMIM:612289 |
Exstrophy-Epispadias Complex |
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Female sexual dysfunction, Male sexual dysfunction, Spina bifida, Hydrocephalus |
ORPHA:322 |
Microphthalmia With Limb Anomalies |
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Arrhinencephaly, Hydrocephalus, Camptodactyly of 2nd-5th fingers |
ORPHA:1106 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Facial hypotonia, Ventriculomegaly |
ORPHA:457359 |
Histiocytoid Cardiomyopathy |
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Hydrocephalus |
ORPHA:137675 |
Loeys-Dietz Syndrome 2 |
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Dural ectasia, Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:610168 |
Baller-Gerold Syndrome |
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Spina bifida occulta, Hydrocephalus |
OMIM:218600 |
Neurofibromatosis Type 1 |
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Hydrocephalus, Memory impairment |
ORPHA:636 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Muscle hypertrophy of the lower extremities, Streak ovary, Azoospermia, Chordee, Male infertility |
ORPHA:1772 |
46,Xy Partial Gonadal Dysgenesis |
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Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
Holoprosencephaly 9 |
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Holoprosencephaly, Hydrocephalus |
OMIM:610829 |
Hydrolethalus Syndrome 1 |
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Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Agenesis of the diaphragm, Anen... |
OMIM:236680 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Aggressive behavior, Self-mutilation, Hydrocephalus, Camptodactyly of finger, Camptodactyly, Dila... |
OMIM:607872 |
Fraser Syndrome 1 |
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Hydrocephalus, Myelomeningocele |
OMIM:219000 |