Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
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 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Cognitive impairment |
OMIM:613909 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment |
ORPHA:276183 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration |
OMIM:620315 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency, Dementia |
OMIM:615889 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypogonadotropic hypogonadism |
OMIM:619420 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Cognitive impairment, Attention defici... |
ORPHA:300573 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Frontal lobe dementia, Memory impairment, Lateral ventricle dilatation, Dementia |
OMIM:221770 |
Cach Syndrome |
|
Premature ovarian insufficiency, Progressive neurologic deterioration, Primary amenorrhea, Second... |
ORPHA:135 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Hypospadias |
OMIM:618330 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:616034 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Lateral ventricle dilatation, Attention deficit hyperactivity... |
OMIM:617854 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus |
OMIM:619278 |
Holoprosencephaly 5 |
|
Hydrocephalus, Central diabetes insipidus, Lateral ventricle dilatation |
OMIM:609637 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Memory impairment, Lateral ventricle dilatation, Progressive language deterioration, Frontotempor... |
OMIM:607485 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:618736 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gonadal ... |
OMIM:618820 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:619847 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ability to concentr... |
OMIM:612863 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricle dilatation, Attention def... |
ORPHA:544488 |
Fanconi Anemia, Complementation Group I |
|
Agenesis of corpus callosum, Colpocephaly, Hypothyroidism, Decreased response to growth hormone s... |
OMIM:609053 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... |
OMIM:309801 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Lateral ventricle dilatation, Dementia, Mental deterioration, Memory impair... |
ORPHA:2822 |
Cog5-Cdg |
|
Cryptorchidism, Micropenis, Lateral ventricle dilatation |
ORPHA:263487 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Cognitive impairment |
ORPHA:2148 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Hypothyroidism, Decreased response to growth hormone stimu... |
ORPHA:1855 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Short attention span, Diabetes mellitus, Hypergonadotropic hypogonadism, D... |
ORPHA:273 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Hypospadias, Supernumerary nipple, Lateral ventricle dilatation, Colpocephaly, ... |
ORPHA:397715 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Lateral ventricle dilatation, Attention deficit hyperactivity disorder |
OMIM:617557 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... |
ORPHA:293725 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hypospadias, Cryptorchidism, Colpocephaly, Hypoplastic nipples, Agenesis of corpus callosum, Clit... |
OMIM:614866 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Hydrocephalus, Lateral ventricle dilatation, Attention deficit hyperactivit... |
OMIM:619575 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Cryptorchidism, Colpocephaly, Penile hypospadias, Hypospadias |
OMIM:620083 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Hypospadias, Supernumerary nipple, Cryptorchidism, Colpocephaly, Chordee |
ORPHA:477993 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia |
OMIM:300952 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Micropenis, Ventriculomegaly |
OMIM:619479 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Pa... |
OMIM:270400 |
Aicardi Syndrome |
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Precocious puberty, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventric... |
OMIM:304050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Progressive neurologic deterioration, Cryptorchidism, Partial agenesis of the corpus callosum, Hy... |
OMIM:210710 |
Khan-Khan-Katsanis Syndrome |
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Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Hydrocele testis, Social and ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Hydrocele testis, Social and ... |
ORPHA:353277 |
Genitopatellar Syndrome |
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Small scrotum, Enlarged labia minora, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, ... |
OMIM:606170 |
Osteopetrosis, Autosomal Recessive 7 |
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Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
6Q Terminal Deletion Syndrome |
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Colpocephaly, Hypospadias, Phimosis |
ORPHA:75857 |
Holoprosencephaly 13, X-Linked |
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Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
Intellectual Developmental Disorder, Autosomal Recessive 56 |
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OMIM:617125 |