Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Megalocornea |
|
Megalocornea |
OMIM:249300 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Facial Paresis, Hereditary Congenital, 1 |
|
Decreased corneal reflex |
OMIM:601471 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Cognitive impairment, Infertility, Azoospermia |
OMIM:613909 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Cognitive impairment, Male infertility, Azoospermia |
ORPHA:276183 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Corneal Dystrophy, Lattice Type Iiia |
|
Lattice corneal dystrophy, Corneal erosion |
OMIM:608471 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Micropenis, Polymicrogyria, Bilateral cryptorchidism |
OMIM:300982 |
Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Cognitive impairment, Dysgenesis of the basal ganglia... |
ORPHA:300573 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism, Microcephaly |
OMIM:618165 |
Alg13-Cdg |
|
Cognitive impairment, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... |
ORPHA:2185 |
Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
Martsolf Syndrome 2 |
|
Dilation of lateral ventricles, Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum,... |
OMIM:619420 |
Unilateral Hemispheric Polymicrogyria |
|
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus callosum |
OMIM:616816 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cerebral calcification |
OMIM:613987 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Memory impairment, Lewy bodies, Frontotemporal dementia, Dilation of lat... |
OMIM:607485 |
Cach Syndrome |
|
Secondary amenorrhea, Cognitive impairment, Progressive neurologic deterioration, Dysgyria, Prima... |
ORPHA:135 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
ORPHA:488635 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... |
ORPHA:137596 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cerebral atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Alg2-Cdg |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
Mental Retardation, Autosomal Dominant 48 |
|
Hypospadias, Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia... |
OMIM:617751 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Basal ganglia gliosis, Ventricul... |
ORPHA:79243 |
Holoprosencephaly 5 |
|
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly |
OMIM:609637 |
Microphthalmia-Brain Atrophy Syndrome |
|
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Diabetes mellitus, Microcephaly |
OMIM:619278 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dilation of lateral ventricles, Cerebral cortical hemiatrophy |
ORPHA:306669 |
X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Dilation of lateral ventricles, Hydrocele testis |
ORPHA:85290 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Cognitive impairment, Abnormal caudate nucleus morphology, Pachygy... |
ORPHA:2148 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy |
ORPHA:363654 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Agenesis of corpus callosum, Microcephaly |
OMIM:618736 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... |
ORPHA:178469 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization |
ORPHA:163934 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly |
OMIM:615219 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter hypoplasia, Simplified gyral pattern, Primary microcephaly, Hypoplasia of t... |
ORPHA:284417 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Dementia, Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia n... |
ORPHA:2822 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus |
OMIM:229200 |
Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... |
ORPHA:208447 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Colpocephaly, Absent septum pellucidum, Clitoral hypertrophy, Micropenis, H... |
OMIM:309801 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... |
ORPHA:565624 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Cerebral atrophy |
OMIM:222300 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts |
OMIM:600721 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral w... |
ORPHA:356961 |
Cardiofaciocutaneous Syndrome 4 |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
OMIM:615280 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Absent septum pellucidum, Hypothyroidism, Decreased response to growth hormone stim... |
OMIM:609053 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... |
OMIM:305400 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... |
OMIM:618606 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... |
ORPHA:300570 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... |
ORPHA:488627 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Agenesis of corpus callosum, Dysplastic corpus callosum, Streak ovary, Chordee, Colp... |
OMIM:618820 |
Glutamine Deficiency, Congenital |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts |
OMIM:610015 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Abnormal preputium morphology, Primary ... |
ORPHA:293725 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly |
ORPHA:3078 |
Malan Overgrowth Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:420179 |
Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Ventriculomegaly, Hypothyroidism, Cerebral calc... |
ORPHA:1855 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Dilated third ventricle, Dandy-Walker malformation, Colpocephaly, Abnormal corpus ca... |
ORPHA:397715 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:261250 |
Cog5-Cdg |
|
Cerebral white matter atrophy, Micropenis, Diffuse cerebral atrophy, Dilation of lateral ventricl... |
ORPHA:263487 |
Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dilation of lateral ventricles,... |
OMIM:617296 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... |
ORPHA:572798 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Diffuse leukoencephalopathy, Micropenis, Hypothyroidism, Cerebral atrophy... |
OMIM:619487 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Cognitive impairment,... |
ORPHA:273 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Dilated third ventricle, Male urethral meatus stenosis, Cholelithiasis, Cavum septum... |
ORPHA:464738 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles |
OMIM:612863 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:618914 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... |
ORPHA:457279 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Cerebral white matter hypoplasia, Colpocephaly, Chordee, Cryptorchidism, Hypoplasia ... |
ORPHA:477993 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Bainbridge-Ropers Syndrome |
|
Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus callosum, Precocious pub... |
OMIM:615485 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... |
OMIM:304050 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Mosaic Trisomy 1 |
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Micropenis, Polymicrogyria, Dilation of lateral ventricles, Penile hypospadias, Agenesis of corpu... |
ORPHA:1692 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Megalencephaly, Cerebral edema,... |
ORPHA:3063 |
Weaver Syndrome |
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Dilation of lateral ventricles, Absent septum pellucidum, Cryptorchidism, Hydrocele testis |
OMIM:277590 |
Distal Monosomy 10Q |
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Cavum septum pellucidum, Dilation of lateral ventricles, Microcephaly |
ORPHA:96148 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Hypospadias, Ventriculomegaly, Small pituitary gland, Micropenis, Dilation of lateral ventricles,... |
OMIM:619479 |
Glutaric Acidemia I |
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Dilation of lateral ventricles |
OMIM:231670 |
Kohlschutter-Tonz Syndrome-Like |
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Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly |
OMIM:619229 |
6Q Terminal Deletion Syndrome |
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Hypospadias, Abnormal cerebral cortex morphology, Colpocephaly, Phimosis, Polymicrogyria, Abnorma... |
ORPHA:75857 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, External genital hypoplasia, Microcephaly, Anterior pituitary hypo... |
ORPHA:177907 |
Khan-Khan-Katsanis Syndrome |
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Colpocephaly, Microcephaly |
OMIM:618460 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pachygyria, Micropenis, Ambiguous genitalia, Dilation of lateral ventricles, Pancreatic fibrosis |
OMIM:263520 |
Genitopatellar Syndrome |
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Enlarged labia minora, Colpocephaly, Clitoral hypertrophy, Micropenis, Cryptorchidism, Agenesis o... |
OMIM:606170 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus |
OMIM:619575 |
Holoprosencephaly 13, X-Linked |
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Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia |
OMIM:301043 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hypospadias, Social and occupational deterioration, Abnormal corpus callosum morphology, Secondar... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hypospadias, Social and occupational deterioration, Abnormal corpus callosum morphology, Secondar... |
ORPHA:353277 |
Osteopetrosis, Autosomal Recessive 7 |
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Dilation of lateral ventricles, Hydrocephalus |
OMIM:612301 |
Choreoacanthocytosis |
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Caudate atrophy, Bradyphrenia, Abnormal putamen morphology, Frontal cortical atrophy, Hypoplastic... |
ORPHA:2388 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Si... |
ORPHA:500150 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Hypospadias, Congenital hypothyroidism, Abnormal external genitalia, Leukoencephalopathy, Microce... |
OMIM:607872 |
Congenital Disorder Of Glycosylation, Type Iim |
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Vesicovaginal fistula, Cerebral atrophy, Dilation of lateral ventricles, Hypoplasia of the corpus... |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... |
ORPHA:261552 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia, Hydrocephalus, Dilati... |
OMIM:619534 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
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Large basal ganglia, Absent septum pellucidum, Polymicrogyria, Cerebral atrophy, Hypoplasia of th... |
ORPHA:88616 |
Intellectual Developmental Disorder, Autosomal Recessive 56 |
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OMIM:617125 |