| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst, Coloboma |
OMIM:251505 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Microcornea, Microphthalmia, Median cleft palate |
ORPHA:2432 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Anal atresia |
ORPHA:1381 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, High palate, Microphthalmia |
ORPHA:2528 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po... |
ORPHA:85194 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... |
ORPHA:324416 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia |
OMIM:616570 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Cleft palate, Coloboma, Microphthalmia, Downslanted palpeb... |
ORPHA:1617 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
| Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Spina bifida, Antecubital pterygium, Cleft palate, Microcornea, Mi... |
OMIM:161200 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... |
OMIM:613155 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,... |
OMIM:251750 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial hand polydactyl... |
OMIM:611134 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Microphthalmia |
ORPHA:1466 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:615771 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb... |
OMIM:615181 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
| Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atresia |
ORPHA:195 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Cataract, Neonatal death, Microphthalmia |
OMIM:613730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Low anterior hairline, Coloboma, De... |
OMIM:613153 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,... |
OMIM:617805 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... |
OMIM:615145 |
| Lissencephaly 8 |
|
Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainstem, Talipes equinovarus, ... |
OMIM:617255 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614830 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ... |
ORPHA:90654 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Hypertrichosis, Developmental cataract, Microcornea, Facial hypertrichosis, Microp... |
OMIM:600118 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Widow's peak, Anterior basal encephalocele, Coloboma, Cranium bifidum occul... |
OMIM:136760 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... |
OMIM:619694 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy |
ORPHA:363741 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Microphthalmia, Syndromic 8 |
|
Cleft palate, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Microphthalmia |
ORPHA:1528 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... |
ORPHA:2189 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Anophthalmia |
ORPHA:411986 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Cutaneous syndactyly, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger |
ORPHA:166024 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Mesoaxial hand polydactyly |
OMIM:618763 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... |
OMIM:167730 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... |
OMIM:614424 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, High palate, Chorioretinal ... |
ORPHA:139471 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial polydactyly |
OMIM:300804 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Long eyelashes |
ORPHA:48431 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Stromme Syndrome |
|
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal malrotation, Hydrocep... |
OMIM:243605 |
| Trisomy 1Q |
|
Anophthalmia, Arachnodactyly, Toe syndactyly, Polyhydramnios, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Intestinal malrotation, Highly arched eyebrow, Ectopia lentis, Subm... |
ORPHA:2712 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... |
OMIM:619339 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
| Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy, Exencephaly |
OMIM:614464 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac... |
OMIM:614175 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Chiari... |
ORPHA:3378 |
| Temtamy Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
| Pierpont Syndrome |
|
Telecanthus, High anterior hairline, Microcornea, Narrow palpebral fissure, Blepharophimosis, Mic... |
OMIM:602342 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
| Pierpont Syndrome |
|
Telecanthus, Microcornea, Narrow palpebral fissure, Microphthalmia, High anterior hairline |
ORPHA:487825 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcorn... |
ORPHA:1806 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Death in childhood, Sparse hair, Microphthalmia |
OMIM:610756 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s... |
OMIM:614120 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too... |
OMIM:617757 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial polyd... |
OMIM:614815 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Cleft palate, Microcornea, Col... |
OMIM:610125 |
| Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Brittle hair, Pyloric stenosis, Developmental cataract, Microphthalmia, Tiger tail band... |
OMIM:616395 |
| Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Neonatal de... |
ORPHA:85284 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Optic atrophy, Dysphagia, Astigmatism, Gastroesophageal reflux, Chorioretinal colobom... |
ORPHA:494344 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Dow... |
OMIM:218340 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Cataract, Retinal pigment epithelial mottling, High palate, Sparse hair, Microphthalm... |
OMIM:614105 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Hydrocephalus, Optic atrophy, Low anterior hairline, Developmental cataract, Narrow pal... |
OMIM:614219 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dys... |
ORPHA:899 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, M... |
OMIM:221900 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P... |
OMIM:206920 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hypertension, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... |
OMIM:617622 |
| Frontorhiny |
|
Encephalocele, Epicanthus, Cataract, Widow's peak, Cleft palate, Basal encephalocele, Cranium bif... |
ORPHA:391474 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy, Coloboma |
OMIM:274270 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
| Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Woolly hair, Optic atrop... |
OMIM:234050 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Hydrocephalus, Optic atrophy, Abnormal lung lobation, Microcorne... |
ORPHA:3301 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios, Abnormal morphology of the radius |
ORPHA:3469 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Optic atrophy, Coloboma, Dysphagia, Microphthalmia, Hypertrichosis |
OMIM:612379 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... |
OMIM:615877 |
| Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Cleft palate, Lobar holoprosencephaly, Microphthalmia, Downslanted pa... |
ORPHA:2117 |
| Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Low anterior hairline, Narrow palate, Developmental cataract, Microcorne... |
OMIM:614222 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... |
ORPHA:93323 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Cleft palate, High palate, Long palpebral fissure, Micr... |
ORPHA:163649 |
| Neuroocular Syndrome |
|
Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplas... |
OMIM:619539 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Developmental cataract, High palat... |
OMIM:618804 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Cerebellar hypoplasia, Heart murmur |
OMIM:606744 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the... |
ORPHA:3412 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... |
OMIM:608091 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Peters anomaly, Microphthalmia, Downslanted palpebral fiss... |
OMIM:614526 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Megalocornea, Congen... |
ORPHA:137675 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Cleft palate |
OMIM:600251 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia |
OMIM:617306 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Cleft palate, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Hori... |
OMIM:618571 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ab... |
ORPHA:35173 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Microphthalmia, Cerebellar vermis hypoplasia, Postaxial polydactyly |
OMIM:619185 |
| Rodrigues Blindness |
|
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia |
OMIM:268320 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia, Downsl... |
ORPHA:251038 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Hirsut... |
OMIM:615663 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Cataract, Corneal dystrophy, Anorectal anomaly, Trach... |
ORPHA:1839 |
| Cat Eye Syndrome |
|
Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, ... |
OMIM:115470 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... |
OMIM:169550 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Recurrent pneumonia, Death in childhood, Blepharophimosis, Microphthalmia, Hirsutism |
OMIM:214150 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypo... |
ORPHA:2611 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Epicanthus, Coloboma, Peters anomaly |
OMIM:618652 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Cataract, Remnants of the hyaloid vascular s... |
OMIM:614643 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Cataract, Brittle hair, Trichoschisis, Malabsorption, F... |
OMIM:601675 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, R... |
OMIM:236670 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... |
OMIM:146255 |
| Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, High pala... |
ORPHA:141099 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Cleft palate, Microcornea, Umbilical hernia, Microphthalmia, Retinopathy, Generalized... |
ORPHA:2505 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Al-Gazali-Bakalinova Syndrome |
|
Tapered finger, Lymphedema, Genu valgum, Polydactyly, Molar tooth sign on MRI, Clinodactyly |
OMIM:607131 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Curry-Jones Syndrome |
|
Intestinal malrotation, Optic disc coloboma, Microphthalmia, Iris coloboma, Generalized hirsutism |
ORPHA:1553 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Recurrent pneumonia, Cleft palate, Furrowed tongue, Microcornea, High palat... |
OMIM:616449 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
| 8Q21.11 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Cataract, Corneal opacity, Sclerocornea, High palate, Blepharophimosis, Micro... |
ORPHA:284160 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Microcornea, High palate, Blepharophimosis... |
OMIM:110100 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Cleft palate, Pigmentary retinopathy, High palate, Microphtha... |
OMIM:614230 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Coloboma, Anal... |
OMIM:619318 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Low posterior hairline, Chorioretinal coloboma, Long palpebral... |
OMIM:243310 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog... |
ORPHA:2526 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lipo... |
OMIM:601707 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Abnormal eyelash morphology, Pyloric s... |
OMIM:147791 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Microphthalmia, Retinopathy, Ptosis |
ORPHA:773 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne... |
OMIM:278730 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites |
ORPHA:858 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, M... |
OMIM:613001 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Camptodactyly of finger, Coxa valga, Metatarsus... |
ORPHA:356961 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Microspherophakia, Narrow palate, Shallow anterior chamber, Shallow orbits |
OMIM:277600 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Kapur-Toriello Syndrome |
|
Cataract, Intestinal malrotation, Cleft palate, Low posterior hairline, Retinal coloboma, Microph... |
OMIM:244300 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, High palate, Retinal c... |
ORPHA:2510 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmi... |
OMIM:618727 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fine hair, Microcornea, Persistent pupillary... |
OMIM:257850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cataract, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia... |
OMIM:613150 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Polyh... |
ORPHA:2547 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Microcornea, Retinal colobom... |
ORPHA:2839 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Narrow palate, Shallow ... |
OMIM:608328 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus, Metaphysea... |
ORPHA:163966 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Cleft palate, Microcornea, Upslanted palpebral fissure, High palate, Hypoplastic nipp... |
OMIM:156610 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Lymphedema, Abnormal brainstem morphology, Telangiectasia, Aplasia/Hy... |
ORPHA:79279 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Micromelia, Postaxial polydactyly, Hydrocephalus, P... |
OMIM:616546 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia |
OMIM:616538 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Aplasi... |
OMIM:216360 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption |
ORPHA:100025 |
| Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Polydactyly, Syndactyly |
OMIM:602501 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly, Polyhydramnios |
ORPHA:261272 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... |
ORPHA:564 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Mednik Syndrome |
|
Death in infancy, Cataract, Jejunal atresia, Upslanted palpebral fissure, Death in childhood, Neo... |
OMIM:609313 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Bilateral microphthalmos, Low anterior hairline, Upslanted palpebral fissure, Macrogl... |
ORPHA:369891 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Cleft palate, Distichiasis, Conjunctivitis, Chylothorax, Recurrent corne... |
OMIM:153400 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Cataract, Hydrocephalus, Esophageal varix, ... |
ORPHA:974 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Epicanthus, Cataract, Spina bifida, Esophageal atresia, Anen... |
ORPHA:3380 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma, Intestinal malrotation |
ORPHA:2328 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... |
OMIM:615636 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... |
OMIM:619306 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Optic nerve hypoplasia, Abnormal hair morphology, High, narrow palate, Bilateral mic... |
OMIM:607597 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Developmental cataract |
ORPHA:335 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... |
ORPHA:2714 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor, Highly arched eyebrow, Nail dystrophy |
OMIM:300887 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Hypoplasia of the brainstem, Talipes equinov... |
OMIM:157900 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R... |
OMIM:229200 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Anteriorly placed anus, Upslanted palpebral fissure, Blepharophimosis, Microphth... |
ORPHA:1352 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Oculoskeletodental Syndrome |
|
Epicanthus, Low anterior hairline, Developmental cataract, Low posterior hairline, Macroglossia, ... |
OMIM:618440 |
| Monosomy 18P |
|
Lymphedema, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Hand polydactyl... |
ORPHA:2162 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigmentary retinopat... |
OMIM:309801 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Ankyloglossia |
OMIM:602361 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Ankyloblepharon, Microcornea, Chorioretinal coloboma, Microphthalm... |
ORPHA:568 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Optic atrophy, Retinal dysplasia, Hol... |
OMIM:253800 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Aplasia/Hypoplasia of the tongue, T... |
ORPHA:193 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, Microphthalmia |
OMIM:613456 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Clinodactyly, P... |
OMIM:213300 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Intestinal malrotation, Highly arched eyebrow, Bilateral ptosis, Low anterior hairline, Cleft pal... |
ORPHA:404440 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Oligohydramnios |
ORPHA:228390 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Cataract, Supernumerary nipple, Keratitis,... |
OMIM:308300 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Inc... |
OMIM:154700 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Low anterior hairline, Narrow palate, Upslanted palpebral fissure, Long eyelashes, Sp... |
OMIM:617883 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Alopecia, Sparse scalp hair, Absent eyela... |
OMIM:268400 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Cleft palate, Long eyelashes, S-shaped ... |
OMIM:201180 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Cleft palate, Eyelid colobo... |
ORPHA:306542 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Acro-Renal-Ocular Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Microcor... |
ORPHA:959 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Cataract, Sparse eyelashes, Spina bifida, Sp... |
OMIM:234100 |
| Duane-Radial Ray Syndrome |
|
Anal stenosis, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Epicanthus, Retinal colobo... |
OMIM:607323 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Recurrent respiratory infections, Protein-losing enteropathy |
OMIM:619063 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Chiari type I malformation, Microphthalmia, Radial dysplasia |
OMIM:617244 |
| Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Spina bifida, Ectopia lentis, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:2092 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Epicanthus, Cataract, Low anterior hairline, Developmental cata... |
OMIM:212720 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Corneal opacity... |
OMIM:219000 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Rhizomelic leg shor... |
ORPHA:397715 |
| Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... |
ORPHA:83628 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Epicanthus, Optic atrophy, Bifid uvula, High palate, Iris coloboma |
OMIM:601110 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Monosomy 13Q14 |
|
Abnormality of the gastrointestinal tract, Epicanthus, Cataract, Holoprosencephaly, Microphthalmi... |
ORPHA:1587 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Foot polydactyly, M... |
ORPHA:2318 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Thick eyebrow, Spina bifida, Synophrys, Myelomeningo... |
OMIM:193500 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
| Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage,... |
OMIM:620185 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Velopharyngeal insufficiency, Submucous cleft hard pa... |
OMIM:223370 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morpholog... |
ORPHA:370997 |
| Alg6-Cdg |
|
Macroglossia, Rod-cone dystrophy, Protein-losing enteropathy, Retinal degeneration |
ORPHA:79320 |
| Trigonocephaly 1 |
|
Epicanthus, High, narrow palate, Synophrys, Upslanted palpebral fissure, Meckel diverticulum |
OMIM:190440 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Vascular Hyalinosis |
|
Malabsorption, Hematochezia, Premature graying of hair, Protein-losing enteropathy, Chorioretinal... |
OMIM:277175 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... |
OMIM:251230 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Epicanthus, Cataract, Corneal opacity, Stomach cancer, Abnormal lung lobati... |
ORPHA:1052 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar... |
OMIM:619445 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Low anterior hairline, Cleft palate, Microcornea, Narrow palpebra... |
OMIM:260660 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Molar tooth sign on... |
ORPHA:220497 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Fryns Syndrome |
|
Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, High ... |
ORPHA:2059 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Epicanthus, Sparse eyebrow, High, narrow palate, Recurrent pneumonia, Cleft pa... |
ORPHA:464738 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Upslanted palpebral fissure, Synophrys, Protein-losing enteropathy, Spontaneous pneumothorax |
OMIM:618154 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, Overlapping toe, Cerebellar vermis hypoplasia, Increased nuchal translucency... |
OMIM:618494 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Phacoanaphylactic Uveitis |
|
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Vitritis, Abnormal... |
ORPHA:209959 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Fibular hypo... |
OMIM:616300 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Cleft palate, Upslanted palpebral fi... |
OMIM:620098 |
| Incontinentia Pigmenti |
|
Retinal detachment, Alopecia, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Super... |
ORPHA:464 |
| Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, Absent eyebrow, Alopecia, Absent eyelashes... |
OMIM:263650 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Foot polydactyly, M... |
ORPHA:220493 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Tapered finger, Hypoplasia of the pons, Hypoplasia of the brainstem... |
ORPHA:444072 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal at... |
OMIM:617914 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Downslanted palpebral fissures, Cleft palate |
OMIM:619981 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Cardiomyopat... |
ORPHA:79321 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hiatus hernia, Optic atrophy, Hypoplasia of the iris, High palate, Opacific... |
OMIM:251300 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral cleft lip and palate, High... |
OMIM:618874 |
| Aicardi Syndrome |
|
Retinal detachment, Cataract, Spina bifida, Hiatus hernia, Chorioretinal lacunae, Optic disc colo... |
OMIM:304050 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Hypoplasia of the brainstem, Radioulnar synostosis, Talipes equinovarus, Cerebell... |
OMIM:248700 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cataract, Absent eyelashes, Abnormal hair morphology, Low anter... |
ORPHA:861 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Polyhydramnios, Hand clenching, Microphtha... |
OMIM:616920 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia, Downsla... |
OMIM:302960 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Abnormal hair morphology, Synophrys, Optic disc coloboma, Low anterior hairline, Clef... |
ORPHA:251014 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Intestinal malrotation, Spina bifida, Abnormal lung lobation, Cleft palate, Upsl... |
ORPHA:99776 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Cleft palate, Thin eyebrow, Microphthalmia, Microglossia... |
ORPHA:364577 |
| Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Downslanted palp... |
OMIM:619135 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Dry hair, Slow-growing hair, Cleft palate, Fine hair, Microcornea, High pal... |
OMIM:164200 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Vaginal atresia... |
ORPHA:2237 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Tal... |
ORPHA:79139 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Protein-losing enteropathy |
OMIM:613502 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia... |
ORPHA:268249 |
| Stevenson-Carey Syndrome |
|
Downslanted palpebral fissures, Microphthalmia, Gastroesophageal reflux, Coloboma |
OMIM:611961 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, High palate, Gastroesophageal reflux, Microphthalmia, Downslanted palpebral fissures |
ORPHA:65286 |
| Ring Chromosome 10 Syndrome |
|
Downslanted palpebral fissures, Microphthalmia, Aganglionic megacolon |
ORPHA:1438 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Cleft palate, Upslanted palpebral fissure, High palate, Pul... |
OMIM:612530 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia |
ORPHA:90321 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... |
OMIM:277170 |
| 1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Hydrocephalus, High palate, Microphthalmia, Ankyloglossia, Iris coloboma |
ORPHA:250989 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia, Synostosis of carpal bones |
ORPHA:3191 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Narrow palpebral... |
OMIM:229850 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifida occulta, Sho... |
OMIM:305600 |
| Monosomy 9Q22.3 |
|
Epicanthus, Cataract, Hydrocephalus, Umbilical hernia, Retinopathy, Microphthalmia, Downslanted p... |
ORPHA:77301 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the... |
OMIM:253280 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Polyhydramnios, Deviatio... |
ORPHA:1692 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... |
ORPHA:2556 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptoda... |
OMIM:249000 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Upslan... |
OMIM:613451 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Widow's peak, Optic atrophy, Furrowed tongue, Upslanted palpebral fissure, Coloboma, ... |
OMIM:616975 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
| Charge Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Aqueductal stenosis, Abnormal... |
ORPHA:138 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Esophageal atr... |
OMIM:206900 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Short foot, Short palm, Cli... |
ORPHA:264200 |
| Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Cleft palate, Microphthalmia, Generalized hirsutism, Ptosis |
ORPHA:1915 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Abnormality of the humerus, Short thumb, Abnorma... |
ORPHA:2538 |
| Steinfeld Syndrome |
|
Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris coloboma, Bifid uvula, Median cleft lip... |
OMIM:184705 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Orbital cyst, Cleft palate, ... |
OMIM:109400 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Polyhydramnios |
ORPHA:314621 |
| Trichothiodystrophy |
|
Sparse scalp hair, Epicanthus, Brittle hair, High, narrow palate, Recurrent bronchopulmonary infe... |
ORPHA:33364 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Occipital meningocele, Alobar holoprosencephaly, Synophrys, Bilateral mic... |
OMIM:610828 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn... |
OMIM:300166 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, High palate, Spina bifida, Aplasia/Hypoplasia of the uvula, Aplasia/H... |
ORPHA:84 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephal... |
OMIM:610829 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Dry hair, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Mi... |
ORPHA:90324 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, S... |
ORPHA:567 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cataract, Submucous cleft hard palate, Cleft palate, Microphthalmia, Iris coloboma,... |
ORPHA:2250 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Epicanthus, Pyloric stenosis, Anencephaly, Anteriorly placed anus, High palate, Pu... |
OMIM:619148 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, High, narro... |
ORPHA:2108 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Absent mesencephalon, Cerebella... |
OMIM:601374 |
| Sponastrime Dysplasia |
|
Epicanthus, Cataract, Recurrent pneumonia, Microcoria, Congenital aphakia |
ORPHA:93357 |
| 3P25.3 Microdeletion Syndrome |
|
Epicanthus, Pyloric stenosis, High, narrow palate, Cleft palate, Blepharophimosis, Microphthalmia... |
ORPHA:435638 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology, Cereb... |
ORPHA:88619 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia |
OMIM:616258 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retinal hemorrhage, Dev... |
OMIM:175780 |
| Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Supernumerary nipple, Umbilical hernia, High palate, Holoprosencephaly, Chorioretinal... |
OMIM:613884 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Synophrys, Low anterior hairline, Cleft palate, Microcornea, Upslanted palpebral fiss... |
OMIM:616734 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... |
ORPHA:231160 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia, Sclerocornea |
OMIM:300952 |
| Aicardi Syndrome |
|
Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Mal... |
ORPHA:50 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
| Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract |
OMIM:127000 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Upslanted palpebral fissure, Holoprosencephaly, Microphthalmia, Cyc... |
OMIM:264480 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Synophrys, Lacrimal duct atresia, Cleft palate, Coloboma, High palate, Microphthalmia |
OMIM:603457 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
| Tetraamelia Syndrome 1 |
|
Cataract, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... |
OMIM:273395 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Telecanthus, Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palat... |
OMIM:601776 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Hydrom... |
ORPHA:268810 |
| Renpenning Syndrome 1 |
|
Epicanthus, Cataract, Telecanthus, Brittle hair, Cleft palate, Upslanted palpebral fissure, Colob... |
OMIM:309500 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:2612 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Arachnodactyly, Edema, Hypertension, Camptodactyly, Microphthalmia, Oligohydr... |
OMIM:617729 |
| Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... |
OMIM:258040 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Adducte... |
OMIM:610758 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Hydranencephaly, Spina bifida, Absent eyelashes, Cleft palate, Stillbirth, ... |
OMIM:256520 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
| Mend Syndrome |
|
Telecanthus, Cataract, Hydrocephalus, Cleft palate, Upslanted palpebral fissure, High palate, Mic... |
ORPHA:401973 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Death in infancy, Protein-losing enteropathy |
OMIM:608104 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Malrotation of small bowel, Pneumothorax, Cleft palate, Astigmatism, High pal... |
ORPHA:2953 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis, Abnormal jejunum morphology |
ORPHA:449280 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Cleft palate, Umbil... |
ORPHA:2166 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metacarpal, Pre... |
ORPHA:2754 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Epicanthus, Rectal prolapse, Pulmonary lymphangiectasia, Narrow palate, Pleural effusion, Protein... |
OMIM:235510 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Shallow orbits, Spa... |
OMIM:601812 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Death in childhood, Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
| Cockayne Syndrome B |
|
Dry hair, Abnormal hair morphology, Optic atrophy, Developmental cataract, Microcornea, Hypoplasi... |
OMIM:133540 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Telecanthus, Corneal opacity, Synophrys, Cleft palate, High pal... |
OMIM:608670 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Cataract, Pyloric stenosis, Dermatochalasis, Pneumothorax, Recurrent pneumonia, Small bowel diver... |
ORPHA:90349 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Abnormal cornea morphology, ... |
OMIM:244400 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Optic nerve hypoplasia, Spina bifida, Almond-shaped palpebral fissure, Colobom... |
ORPHA:508498 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Pulmonary lymphangiectasia, Cleft palate, High palate, Protein-losing enteropat... |
OMIM:235255 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Cerebellofaciodental Syndrome |
|
Tapered finger, Hypoplasia of the pons, Shortening of all distal phalanges of the fingers, Genu v... |
OMIM:616202 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Epicanthus, Absent nipple, Sparse eyebrow, Opti... |
OMIM:620186 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Hiatus hernia, Sparse eyebrow, High palate, Blepharophimosis, Microphthalmia, High an... |
OMIM:300895 |
| Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, Pyloric stenosis, ... |
OMIM:235730 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Brittle hair, Sparse scalp hair, Brittle scalp... |
OMIM:256500 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Finger clinodactyly, Dysgenesis of the cerebellar v... |
ORPHA:8 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Cataract, Corneal opacity, Chorioretinal dysp... |
ORPHA:534 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Blepharitis |
OMIM:614328 |
| Branchiooculofacial Syndrome |
|
Telecanthus, Anophthalmia, Cataract, Supernumerary nipple, Malrotation of colon, Pyloric stenosis... |
OMIM:113620 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Anophthalmia, Myelomeningocele, Umbilical herni... |
ORPHA:2052 |
| Abetalipoproteinemia |
|
Fat malabsorption, Retinopathy, Retinal degeneration |
OMIM:200100 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormally large globe, Pulmonary lymphangiectasia, High palate, Protein-losing enteropathy, Down... |
ORPHA:1655 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Gastritis, Hematemesis, Atelectasis, Pneumothora... |
ORPHA:73263 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... |
OMIM:614527 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Bilateral ptosis, Megaduodenum |
OMIM:611376 |
| Momo Syndrome |
|
Epicanthus, Bilateral microphthalmos, Eyelid coloboma, High palate, Chorioretinal coloboma, Downs... |
ORPHA:2563 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Short middle phalanx of finge... |
OMIM:607932 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Polyhydramnios, Absent radius, Short thumb, Absent tibia, U... |
OMIM:214800 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Microphthalmia, Cleft palate, Ptosis |
ORPHA:2728 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Trisomy 8P |
|
Hydrocephalus, Malrotation of small bowel, Abnormal lung lobation, Recurrent upper respiratory tr... |
ORPHA:264450 |
| Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Recurrent pneum... |
OMIM:614700 |
| Tarp Syndrome |
|
Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel di... |
OMIM:311900 |
| Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Keratoconjunctivitis sicca, Steatorrhea,... |
ORPHA:14 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis ... |
OMIM:614602 |
| Teebi-Shaltout Syndrome |
|
Telecanthus, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline... |
OMIM:272950 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Polyhydramnios, Abnormal finger morphology, Hydrops ... |
ORPHA:3472 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Coarse hair, Gastr... |
OMIM:612289 |
| Tarp Syndrome |
|
Thick eyebrow, Abnormal hair pattern, Optic atrophy, Cleft palate, Glossoptosis, Pulmonary hypopl... |
ORPHA:2886 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Microphthalmia, Small hand, Short palm |
OMIM:241410 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Arachnodactyly, Abnormal brainstem morphology, Hydrocephalus |
ORPHA:2720 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Bowed humerus, Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI, Brach... |
OMIM:619479 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Cyclopia, Alobar holoprosencephaly, Submucous cleft hard... |
OMIM:157170 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro... |
OMIM:603467 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Horseshoe kidney |
ORPHA:3320 |
| Myhre Syndrome |
|
Cataract, Cleft palate, Fine hair, Narrow palpebral fissure, Sparse hair, Blepharophimosis, Micro... |
OMIM:139210 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Pulmonary artery stenosis, Partial anomalous pulmonar... |
OMIM:265380 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Low anterior hairline, Microphthalmia, Cryptophthalmos, A... |
OMIM:617666 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... |
ORPHA:322 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre... |
ORPHA:51636 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Neonatal death, ... |
OMIM:146510 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Recurrent upper respiratory tract infections, Hematochezia, Coloboma, Protein-l... |
OMIM:618183 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Pulmonary hypoplasia, Pulmonary sequestration, Meckel diverticulum, Abnor... |
ORPHA:2847 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Upslanted palpebral f... |
OMIM:614083 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Abnormal pulm... |
ORPHA:1666 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Synophrys, Cleft palate, Low posterior hairline, Upslanted pal... |
ORPHA:261112 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
| Wilson Disease |
|
Ascites, Pedal edema, Edema, Face of the giant panda sign |
OMIM:277900 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Blepharophimosis, Microphthalmia, Cataract, Sparse hair |
OMIM:620005 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
| Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Cataract, Corneal opacity, Spina bifida, Cleft palate, Meckel diverticulum, Ptosis |
OMIM:274000 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Low posterior hairline, Pulmonary hyp... |
OMIM:617925 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Death in childhood, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclea... |
OMIM:612474 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... |
ORPHA:90794 |
| Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Bronchiectasis, Developmental cataract, Small bowel diverticula, Bronchiolitis, ... |
ORPHA:90348 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Hydrocephalus, Frontal encephalocele, Cleft palate, Coloboma, Eyelid c... |
OMIM:268300 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small intestine, Pu... |
OMIM:200995 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patellar hypoplasia, Short phala... |
OMIM:609945 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Opti... |
OMIM:309800 |
| Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, ... |
OMIM:615948 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Olivo... |
ORPHA:468631 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus... |
OMIM:100300 |
| Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia |
ORPHA:139466 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Bilateral microphthalmos, Uppe... |
OMIM:154500 |
| Degcags Syndrome |
|
Ptosis, Abnormal eyebrow morphology, Hypopigmentation of hair, Jejunal atresia, Pneumonia, Oral-p... |
OMIM:619488 |
| Chylomicron Retention Disease |
|
Fat malabsorption, Retinopathy, Steatorrhea |
ORPHA:71 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung lobation, Tracheoesophageal ... |
ORPHA:141127 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
| Townes-Brocks Syndrome |
|
Cataract, Rectoperineal fistula, Blepharophimosis, Anteriorly placed anus, Rectovaginal fistula, ... |
ORPHA:857 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Branchial fistula, Epicanthus, Cataract, High, narrow palate, Fine... |
OMIM:613406 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ... |
OMIM:236680 |
| Immunodeficiency 31C |
|
Recurrent respiratory infections, Villous atrophy, Bronchiectasis, Gastrointestinal eosinophilia,... |
OMIM:614162 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
| Down Syndrome |
|
Epicanthus, Aganglionic megacolon, Protruding tongue, Brushfield spots, Pulmonary artery stenosis... |
OMIM:190685 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Blepharophimosis, Microphthalmia |
OMIM:227646 |
| Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Epicanthus, Highly arched eyebrow, Hydrocephalus, Malrotation of small bowel, Cle... |
OMIM:194190 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Fat malabsorption, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Postaxial hand polydactyly, Dupl... |
ORPHA:434179 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea, Death in childhood, Punctate keratitis |
OMIM:557000 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cleft hard palate, Abnormal pupil morphology, Microcornea, Abnormality of the pulmonary artery, B... |
ORPHA:261552 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227645 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption |
OMIM:211600 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis... |
OMIM:618419 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Diffuse cerebellar atrophy, Abnormal brainstem morphology, Hypotension |
ORPHA:93256 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus... |
OMIM:618280 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Polyhydramnios, Tapered finger, Short toe, Abnormal brainstem morphology, S... |
ORPHA:464311 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Epicanthus, Optic nerve hypoplasia, Highly arched ey... |
ORPHA:508488 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Cerebellar hypoplasia, Alobar holoprosencephaly |
OMIM:236100 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Cataract, Aganglionic megacolon, Pulmonary artery sling, Cleft hard palate, Pyloric ... |
ORPHA:261537 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Large placenta, Abnormal lung morphology, Anteriorly p... |
ORPHA:1708 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Recurrent pneumonia, E... |
ORPHA:731 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Mowat-Wilson Syndrome |
|
Telecanthus, Cataract, Aganglionic megacolon, Pulmonary artery sling, Cleft hard palate, Pyloric ... |
ORPHA:2152 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Emphysema, Broad uv... |
OMIM:619472 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Brachydactyly, Toe syndactyly, Overlapping toe, Radial bowing, Broad toe, ... |
ORPHA:672 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
| Isolated Biliary Atresia |
|
Xanthelasma, Acholic stools, Fat malabsorption |
ORPHA:30391 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... |
OMIM:135900 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ... |
OMIM:201750 |
| Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... |
ORPHA:2729 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Epicanthus, Dry hair, Pneumonia, Protein-losing enteropathy, Nail dystrophy, U... |
OMIM:619991 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Epicanthus, Intestinal malrotation, Short nail, Supernumerary n... |
OMIM:312870 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Fat malabsorption, Pneumonia, Steatorrhea |
ORPHA:811 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Schinzel-Giedion Syndrome |
|
Overlapping toe, Tibial bowing, Chiari type I malformation, Neural tube defect, Radioulnar synost... |
ORPHA:798 |
| Semilobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93924 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Pulmonary h... |
OMIM:606170 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Renal hypoplasia, Hy... |
OMIM:261540 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Optic atrophy, H... |
ORPHA:709 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ... |
OMIM:601803 |
