Hypertrophic Neuropathy And Cataract |
|
Cataract, Increased CSF protein |
OMIM:239900 |
Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Ventriculomegaly |
ORPHA:1980 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Downslanted palpebral fissures, Epicanthus, Cataract, Epiphyseal stippling |
OMIM:614882 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Corneal opacity, Microcornea |
ORPHA:2432 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Kleeblattschaedel |
|
Hydrocephalus, Recurrent corneal erosions, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Hydrocephalus, Corneal opacity |
ORPHA:1532 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Reduced bone mineral density, Acne, Craniofacial hyperostosis |
ORPHA:577 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation |
ORPHA:1538 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology |
ORPHA:251912 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Cataract, Arthrogryposis multiplex congenita |
ORPHA:250994 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Ptosis |
ORPHA:1473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Flexion contracture, Cataract, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age |
OMIM:212540 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Abnormal eyelash morphology, Periodontitis |
ORPHA:1008 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Epicanthus, P... |
OMIM:269920 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... |
OMIM:608470 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Megalocornea, Synostosis of carpal bones, Abnormality o... |
ORPHA:2741 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Limitation of joint mobility |
ORPHA:99966 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Cataract, Increased CSF protein, I... |
OMIM:136300 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... |
OMIM:602562 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Weight loss, Cataract, Skin rash |
ORPHA:317 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Metatarsal osteolysis, Osteopenia, Carpal osteolysis, Osteolysis involving tarsa... |
OMIM:166300 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Alpha-Mannosidosis |
|
Corneal opacity, Splenomegaly, Chronic otitis media, Synostosis of joints, Arthritis, Cataract, C... |
ORPHA:61 |
Sialidosis Type 2 |
|
Corneal opacity, Osteoporosis, Flexion contracture, Splenomegaly |
ORPHA:87876 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Metatropic Dysplasia |
|
Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Camptodactyly of finger, Ca... |
ORPHA:2635 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Developmental cataract, Ventriculomegaly, Ocular anterior segment dysgenesis, Occi... |
ORPHA:324416 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology, Generalized bone demineralizatio... |
OMIM:215250 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Craniosynostosis, Communicating hydrocephalus, Telecanthus, Developmental glauco... |
ORPHA:1064 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, Ventriculomegaly, Flexion contracture, B lymphocytopenia |
OMIM:619851 |
Congenital Hydrocephalus |
|
Hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Microcornea, Astigmatism, Downs... |
OMIM:152950 |
Congenital Rubella Syndrome |
|
Corneal opacity, Skin rash, Splenomegaly, Thrombocytopenia, Cataract, Anemia, Aplasia/Hypoplasia ... |
ORPHA:290 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus, Skin rash |
ORPHA:26 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Hydrocephalus, Cataract, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Camptodactyly of... |
ORPHA:1794 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract, Flexion contracture |
OMIM:618815 |
Biemond Syndrome Ii |
|
Hydrocephalus, Iris coloboma |
OMIM:210350 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Failure to thrive, Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture |
ORPHA:171860 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Rhinitis, Limitation of joint mobility, Splenomegaly |
ORPHA:93476 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures |
ORPHA:2788 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age, Broad eyebrow, Narrow palpebral fissure, Synophrys |
OMIM:618302 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract, Neonatal death |
OMIM:273680 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Osteopenia, Hepatosplenomegaly, Cataract, Pneumonia, Pancytopenia |
ORPHA:309288 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Al-Gazali Syndrome |
|
Recurrent fractures, Corneal opacity, Failure to thrive, Proximal radio-ulnar synostosis, Osteope... |
OMIM:609465 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Ventriculomegaly, Leukemia |
OMIM:602501 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Mental Retardation, Buenos Aires Type |
|
Failure to thrive, Hydrocephalus, Blue irides, Curly eyelashes, Downslanted palpebral fissures, L... |
OMIM:249630 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Reduced bone mineral density, Ventriculomegaly, Acute leukemia, Limitat... |
ORPHA:2770 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Atopic Keratoconjunctivitis |
|
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... |
ORPHA:163934 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Upslanted palpebral ... |
OMIM:609637 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Long eyelashes, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Temple Syndrome |
|
Hydrocephalus, Joint hypermobility, Flexion contracture, Small for gestational age, Truncal obesi... |
OMIM:616222 |
Multiple Sulfatase Deficiency |
|
Joint stiffness, Hydrocephalus, Corneal opacity, Thick eyebrow, Splenomegaly, Cataract |
ORPHA:585 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Posterior embryotoxon, Narrow palpebral fissure, Dandy-W... |
OMIM:220220 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Achondroplasia |
|
Limited hip extension, Hydrocephalus, Generalized joint laxity, Limited elbow extension, Recurren... |
OMIM:100800 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract, Upslanted palpebral fissure |
OMIM:617183 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... |
OMIM:603165 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Corneal opacity, Craniosynostosis, Osteopenia, Megalocornea, Osteoporosis, Downsla... |
ORPHA:2409 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis, Anter... |
OMIM:614195 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture |
OMIM:300884 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Craniosynostosis, Small for gestational age, Leukopenia, Astigmatism, Downslante... |
OMIM:301056 |
Alexander Disease |
|
Hydrocephalus, Microcoria, Increased CSF protein |
OMIM:203450 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downslanted palpebral fissures, Cataract, Ventriculomegaly, Neutropenia |
ORPHA:2643 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Downslanted palpebral fissures, Epicanthus, Hydrocephalus, Craniosynostosis |
ORPHA:1516 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Ventriculomegaly |
ORPHA:137902 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Wilson Disease |
|
Failure to thrive, Acute hepatitis, Splenomegaly, Pathologic fracture, Arthritis, Hepatitis, Weig... |
ORPHA:905 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, ... |
ORPHA:1234 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Corneal opacity, Developmental cataract |
OMIM:616603 |
Proteus-Like Syndrome |
|
Hydrocephalus, Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Communicating hydrocephal... |
ORPHA:2969 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hydr... |
ORPHA:53 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Axillary pterygium, Antecubital pterygium |
OMIM:619339 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Recurrent fractures, Megalocornea, Keratoconus, Keratoglobus, Joint hypermobility, S... |
OMIM:614170 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils,... |
ORPHA:381 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes |
OMIM:602400 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Cataract, Ventriculomegaly |
ORPHA:272 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Sparse eyebrow, Lipomas of eyelids, Hamartoma of the orbital region, Telecanthus... |
ORPHA:2399 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Joint laxity, Elbow flexion contractur... |
OMIM:613776 |
Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele, Cataract |
OMIM:615191 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hydrocephalus, Osteomyelitis, Increased bone mineral density, Craniosynostosis... |
OMIM:259700 |
8Q21.11 Microdeletion Syndrome |
|
Corneal opacity, Camptodactyly of finger, Eczema, Downslanted palpebral fissures, Iris hypopigmen... |
ORPHA:284160 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Acrocyanosis, Cataract, Pneumonia |
ORPHA:1867 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Hydrocephalus, Failure to thrive, Synophrys, Brushfield spots |
ORPHA:1895 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Hydrocephalus, Abnormally prominent line of Schwalbe, Telecanthus, Ri... |
OMIM:109120 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ocular albinism, Hypochromic anemia, Reduced bone mineral density, Abnormality of ... |
ORPHA:2720 |
Zellweger Syndrome |
|
Failure to thrive, Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, Epicanthu... |
ORPHA:912 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Cataract, Osteoporosis, Reduced bone mineral density |
ORPHA:2410 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Reduced bone mineral density, Iris coloboma, Cataract, Ventriculomega... |
ORPHA:2611 |
Gorlin Syndrome |
|
Hydrocephalus, Telecanthus, Epicanthus, Iris coloboma, Cataract, Vertebral fusion |
ORPHA:377 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hydrocephalus, Cataract |
OMIM:601794 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity |
OMIM:618961 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Hydrocephalus, Iris coloboma, Ventriculomegaly, Eyelid coloboma, Dandy-Walker ma... |
ORPHA:1647 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Arthritis, Uveitis, Conjunctivitis |
OMIM:120100 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ... |
OMIM:610333 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Failure to thrive, Hydrocephalus, Thick eyebrow, Upslanted palpebral fissure, Distal arthrogrypos... |
OMIM:619833 |
Crouzon Syndrome |
|
Hydrocephalus, Multiple suture craniosynostosis, Iris coloboma, Conjunctivitis, Ptosis |
ORPHA:207 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Anemia, Thrombocytopenia, Failure to thrive in infancy |
ORPHA:858 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Failure to thrive, Oligoarthritis, Band keratopathy, Rheumatoid arthritis, Anterior chamber synec... |
ORPHA:85410 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus, Joint laxity |
OMIM:236660 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma, Flexion contracture |
OMIM:614594 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Flexion contracture |
OMIM:304340 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Opacification of the corneal stroma, Normochromic anemia |
OMIM:245900 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Corneal opacity, Lymphopenia, Pancreatitis, Small for gestational age, Abnorma... |
ORPHA:1830 |
Hurler Syndrome |
|
Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Calvarial hyperostosis, Spl... |
OMIM:607014 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Cataract, Epiphyseal stippling |
ORPHA:1914 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Short palpebral fissure, Axenfeld anomaly, Posterior embryotoxon, Opacification of... |
OMIM:612582 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Farber Disease |
|
Failure to thrive, Corneal opacity, Flexion contracture, Hepatosplenomegaly, Opacification of the... |
ORPHA:333 |
Scheie Syndrome |
|
Joint stiffness, Corneal opacity, Splenomegaly, Rhinitis, Limitation of joint mobility |
ORPHA:93474 |
Mietens Syndrome |
|
Joint stiffness, Corneal opacity, Elbow ankylosis, Microcornea, Cataract, Sclerocornea |
ORPHA:2557 |
Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... |
ORPHA:1791 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Central Precocious Puberty |
|
Increased body weight, Hydrocephalus, Obesity, Acne |
ORPHA:759 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Scleroc... |
OMIM:615145 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Cataract, Upslanted palpebral fissure |
ORPHA:496790 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Stillbirth, Increased bone mineral density, Decreased osteoclast count, Splenomega... |
OMIM:259720 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Narrow palpebral fissure, Ptosis |
OMIM:613603 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Greig Cephalopolysyndactyly Syndrome |
|
Telecanthus, Hydrocephalus, Craniosynostosis |
ORPHA:380 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Flexion contracture, Astigmatism |
OMIM:270200 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Alpha-Mannosidosis, Infantile Form |
|
Joint stiffness, Corneal opacity, Cortical thickening of long bone diaphyses, Craniosynostosis, O... |
ORPHA:309282 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Downslanted palpebral fissures, Cataract, Obesity, Aniridia, Ptosis |
OMIM:612469 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Opacification of the corneal stroma, Ventriculomegaly, Occipital ence... |
OMIM:615287 |
Mucopolysaccharidosis, Type Vii |
|
Joint stiffness, Hydrocephalus, Corneal opacity, Thick eyebrow, Flexion contracture, Splenomegaly... |
OMIM:253220 |
Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Shallow orbits, Orbital... |
OMIM:112240 |
Cystinosis |
|
Failure to thrive, Corneal opacity, Rickets |
ORPHA:213 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Opacification of the cornea... |
OMIM:614866 |
Congenital Sialidosis Type 2 |
|
Hydrocephalus, Corneal opacity, Hepatosplenomegaly, Cataract, Developmental cataract |
ORPHA:93400 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... |
ORPHA:96125 |
3Q29 Microduplication Syndrome |
|
Craniosynostosis, Camptodactyly of toe, Downslanted palpebral fissures, Iris coloboma, Cataract, ... |
ORPHA:251038 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Hydrocephalus, Splenomegaly, Ventriculomegaly, Increased CSF protein |
OMIM:272200 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Corneal opacity, Ectropion, Ocular albinism, Iris hypopigmentation, Cataract, Anemia, Limitation ... |
ORPHA:2719 |
Tenorio Syndrome |
|
Hydrocephalus, Thick eyebrow, Osteopenia, Telecanthus, Stomatitis, Ventriculomegaly, Pneumonia, K... |
OMIM:616260 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hydrocephalus, Hypoplastic spleen, Aniridia, Decreased skull ossification, Asp... |
OMIM:602361 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Unilambdoid synostosis, Hydrocephalus, Long eyelashes, Ventriculomegaly |
OMIM:618577 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Lens luxatio... |
OMIM:224400 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein, Abnormal eyelid morphology |
ORPHA:251915 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Craniosynostosis, Radioulnar synostosis, Obesity, Blepharophimosis |
ORPHA:171839 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Corneal opacity, Metatarsal osteolysis, Peripheral opacification of the cornea, ... |
OMIM:259600 |
Krabbe Disease |
|
Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein |
OMIM:245200 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:812 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
H Syndrome |
|
Histiocytosis, Recurrent fractures, Hydrocephalus, Abnormal eyebrow morphology, Upper eyelid edem... |
ORPHA:168569 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Corneal opacity, Microcornea, Iris coloboma, Cataract, Ventriculomegaly, Dandy-Wal... |
ORPHA:899 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Decreased proportion of class-switched memory B cells, C... |
OMIM:614878 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Downslanted... |
OMIM:175700 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Corneal opacity, Splenomegaly, Hepatitis, Epiphyseal stippling |
ORPHA:584 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Splenomegaly, Corneal neovascularization, Uveitis, Hypereosinophilia, Punctate... |
OMIM:617388 |
Gm1 Gangliosidosis |
|
Joint stiffness, Corneal opacity, Failure to thrive, Splenomegaly, Aspiration pneumonia, Hepatosp... |
ORPHA:354 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Inflammation of the l... |
OMIM:614700 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Osteoporosis, M... |
ORPHA:2169 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Abnormal cornea morphology |
ORPHA:411777 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Cataract, Meningocele, Holoprosencephaly |
ORPHA:588 |
Mend Syndrome |
|
Hydrocephalus, Cataract, Dandy-Walker malformation |
OMIM:300960 |
Fish-Eye Disease |
|
Corneal opacity, Splenomegaly |
ORPHA:79292 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Joint contracture of the hand, Upslanted palpebral fissure, Hypoplasia of the ... |
OMIM:214110 |
Microphthalmia, Isolated 3 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone... |
OMIM:607665 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea |
ORPHA:1806 |
Jacobsen Syndrome |
|
Failure to thrive, Hydrocephalus, Flexion contracture, Holoprosencephaly, Microcornea, Telecanthu... |
OMIM:147791 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Tele... |
OMIM:601499 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Corneal opacity, Ventriculomegaly, Astigmatism |
ORPHA:2323 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Corneal opacity, Unilateral narrow palpebral fissure, Abnormal morph... |
ORPHA:141099 |
Joubert Syndrome 14 |
|
Hydrocephalus, Downslanted palpebral fissures, Epicanthus, Encephalocele, Highly arched eyebrow, ... |
OMIM:614424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Mucopolysaccharidosis Type 3 |
|
Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Reduced bone mineral densit... |
ORPHA:581 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Cataract |
OMIM:615181 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Gaucher Disease |
|
Joint stiffness, Recurrent fractures, Osteomyelitis, Hydrocephalus, Increased bone mineral densit... |
ORPHA:355 |
Triploidy |
|
Hydrocephalus, Holoprosencephaly, Iris coloboma, Cataract, Meningocele, Decreased skull ossification |
ORPHA:3376 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Cataract, Conjunctivitis |
OMIM:612843 |
Incontinentia Pigmenti |
|
Keratitis, Corneal opacity, Skin rash, Eosinophilia, Camptodactyly of finger, Spina bifida occult... |
ORPHA:464 |
Stromme Syndrome |
|
Hydrocephalus, Accessory spleen, Microcornea, Peters anomaly, Iris coloboma, Cataract, Stillbirth... |
OMIM:243605 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Recurrent bacterial skin infections, Colitis, Chronic oral candidiasis, Lympho... |
ORPHA:911 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly, Craniosynostosis |
ORPHA:1528 |
Pseudo-Torch Syndrome 1 |
|
Failure to thrive, Splenomegaly, Opacification of the corneal stroma, Cataract, Ventriculomegaly,... |
OMIM:251290 |
Schimke Immunoosseous Dysplasia |
|
Neutropenia, Lymphopenia, Small for gestational age, Osteopenia, Opacification of the corneal str... |
OMIM:242900 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Megalocornea, Dilated fourth ventricle, Cataract, Ventriculomegaly, Abnormality ir... |
ORPHA:370959 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Upper eyelid coloboma, Astigmatism, Sclerocornea, Abnormal eyelid morph... |
ORPHA:2095 |
Biemond Syndrome Type 2 |
|
Obesity, Hydrocephalus |
ORPHA:141333 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation, Abnormal anterior chamber morphology, Limbal dermoid, H... |
OMIM:613001 |
Popov-Chang syndrome |
|
Failure to thrive, Hydrocephalus, Lymphopenia, Recurrent otitis media, Ptosis |
OMIM:618428 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hydrocephalus, Splenomegaly, Inflammation of the large intestine, Epicanthus, ... |
OMIM:614576 |
6P22 Microdeletion Syndrome |
|
Epicanthus, Hydrocephalus |
ORPHA:251046 |
Emanuel Syndrome |
|
Multiple joint contractures, Hydrocephalus, Failure to thrive, Upslanted palpebral fissure, Hoode... |
ORPHA:96170 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Bone cyst, Abnormal nasolacrimal system morphology, Iris coloboma, Osteolysis, A... |
ORPHA:2396 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Familial Dysautonomia |
|
Recurrent fractures, Corneal opacity, Abnormal pupil morphology, Osteolysis, Corneal erosion, Het... |
ORPHA:1764 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Osteopenia, Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Hurler-Scheie Syndrome |
|
Joint stiffness, Corneal opacity, Splenomegaly, Contracture of the distal interphalangeal joint o... |
OMIM:607015 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract, Communicating hydrocephalus |
OMIM:600559 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Hydrocephalus |
ORPHA:83473 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Thick eyebrow, Upslanted palpebral fissure, Eczema, Osteoporosis, Epicanthus, Ve... |
ORPHA:488632 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Epicanthus, Keratoconus, Joint laxity, Keratoglobus, Decreased cornea... |
OMIM:229200 |
Mosaic Variegated Aneuploidy Syndrome |
|
Corneal opacity, Holoprosencephaly, Downslanted palpebral fissures, Epicanthus, Osteolysis, Catar... |
ORPHA:1052 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Neutropenia, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, He... |
ORPHA:398124 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hydrocephalus, Thick eyebrow, Flexion contracture, Osteopenia, C... |
OMIM:616007 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Tangier Disease |
|
Ectropion, Cicatricial ectropion, Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
Thanatophoric Dysplasia |
|
Joint stiffness, Hydrocephalus, Downslanted palpebral fissures, Ventriculomegaly, Joint hyperflex... |
ORPHA:2655 |
Distal Tetrasomy 15Q |
|
Hydrocephalus, Flexion contracture, Craniosynostosis, Camptodactyly, Large for gestational age, T... |
ORPHA:314588 |
Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity |
ORPHA:93399 |
3Mc Syndrome 3 |
|
Corneal opacity, Radioulnar synostosis, Epicanthus inversus, Blepharophimosis, Highly arched eyeb... |
OMIM:248340 |
Fucosidosis |
|
Failure to thrive, Corneal opacity, Acrocyanosis |
ORPHA:349 |
Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stro... |
OMIM:158310 |
Lathosterolosis |
|
Failure to thrive, Anisopoikilocytosis, Microcornea, Opacification of the corneal stroma, Downsla... |
ORPHA:46059 |
Hurler Syndrome |
|
Hydrocephalus, Corneal opacity, Thick eyebrow, Splenomegaly, Camptodactyly of finger, Rhinitis, L... |
ORPHA:93473 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Epicanthus, Hydrocephalus |
OMIM:600991 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Carpal synostosis, Hydrocephalus, Failure to thrive, Increased bone mineral den... |
ORPHA:90652 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Inflammatory abnormality of the eye, Ptosis |
ORPHA:93262 |
Mucopolysaccharidosis Type 6 |
|
Joint stiffness, Sinusitis, Failure to thrive, Splenomegaly, Opacification of the corneal stroma,... |
ORPHA:583 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Corneal opacity, Recurrent skin infections, Craniosynostosis, Ventriculomegaly... |
ORPHA:79396 |
Aymé-Gripp Syndrome |
|
Hydrocephalus, Craniosynostosis, Upslanted palpebral fissure, Shallow orbits, Megalocornea, Radio... |
ORPHA:1272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract, Ventriculome... |
OMIM:236670 |
Ciliary Dyskinesia, Primary, 1 |
|
Abnormal cornea morphology, Chronic otitis media, Communicating hydrocephalus, Chronic rhinitis, ... |
OMIM:244400 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Sparse eyebrow, Camptodactyly, Downslanted palpebral fissures, Epicanthus, Tubuloi... |
ORPHA:459061 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Upslanted palpebral fissure, Camptodactyly, Cataract, Ventriculomegaly, Arthrogryp... |
OMIM:617822 |
Mosaic Trisomy 9 |
|
Corneal opacity, Upslanted palpebral fissure, Camptodactyly of finger, Ventriculomegaly, Asplenia... |
ORPHA:99776 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Upslanted palpebral fissure |
OMIM:300558 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Chronic otitis media, Horizontal eyebrow, Long eyelashes, Ventriculomegaly |
OMIM:609757 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
De Barsy Syndrome |
|
Failure to thrive, Corneal opacity, Generalized joint laxity, Osteopenia, Downslanted palpebral f... |
ORPHA:2962 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Adams-Oliver Syndrome |
|
Failure to thrive, Hydrocephalus, Leukopenia, Cataract, Encephalocele, Thrombocytopenia |
ORPHA:974 |
Mucopolysaccharidosis Type 1 |
|
Joint stiffness, Hydrocephalus, Sinusitis, Corneal opacity, Splenomegaly, Chronic otitis media |
ORPHA:579 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Oculoauricular Syndrome |
|
Microphakia, Posterior embryotoxon, Microcornea, Spina bifida occulta, Iris coloboma, Cataract, I... |
OMIM:612109 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... |
OMIM:221800 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Whipple Disease |
|
Hydrocephalus, Splenomegaly, Cachexia, Myositis, Myocarditis, Arthritis, Pericarditis, Uveitis, I... |
ORPHA:3452 |
Mirage Syndrome |
|
Hydrocephalus, Decreased body weight, Lymphopenia, Aspiration pneumonia, Radial club hand, Leukop... |
OMIM:617053 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Bresek Syndrome |
|
Hydrocephalus, Neonatal death, Iris coloboma |
ORPHA:85284 |
Hajdu-Cheney Syndrome |
|
Recurrent fractures, Hydrocephalus, Periodontitis, Failure to thrive, Thick eyebrow, Splenomegaly... |
ORPHA:955 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Hydrocephalus |
OMIM:616521 |
Muenke Syndrome |
|
Carpal synostosis, Hydrocephalus, Coronal craniosynostosis, Tarsal synostosis, Ptosis |
ORPHA:53271 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Aplasia/Hypoplasia of the eyebrow, Epicanthus, Hydrocephalus |
ORPHA:2701 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Carpenter Syndrome 1 |
|
Joint contracture of the hand, Coronal craniosynostosis, Opacification of the corneal stroma, Mic... |
OMIM:201000 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Failure to thrive, Hydrocephalus, Osteopenia, Downslanted palpebral fissures, Joint hypermobility |
OMIM:612940 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Limitation of joint mobility, Holoprosencephaly, Ventriculomegaly, Encephalocele, ... |
ORPHA:93274 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Abnormally ossified vertebrae, Microcornea, Iris coloboma, Cataract |
ORPHA:3301 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
B4Galt1-Cdg |
|
Hydrocephalus, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Dan... |
ORPHA:79332 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Hydrocephalus |
ORPHA:2183 |
Temple Syndrome |
|
Obesity, Hydrocephalus, Small for gestational age |
ORPHA:254516 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hydrocephalus, Craniosynostosis, Hyperextensibility of the finger joints, Downslanted palpebral f... |
OMIM:616914 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Coronal craniosynostosis, Osteopenia, Downslanted palpebral fissures, Lambdoidal c... |
OMIM:616294 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Chromosome 8Q21.11 Deletion Syndrome |
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Short palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Epicanthus, Cataract, Scl... |
OMIM:614230 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Hydrocephalus, Flexion contracture |
ORPHA:99947 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Failure to thrive, Corneal opacity, Short palpebral fissure, Thin eyebrow, Telecanthus, Synophrys |
ORPHA:364577 |
Trisomy 17P |
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Hydrocephalus, Flexion contracture, Broad eyebrow, Downslanted palpebral fissures, Cataract, Ptosis |
ORPHA:261290 |
Aniridia 1 |
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Ptosis, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Bilate... |
OMIM:106210 |
Sturge-Weber Syndrome |
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Hydrocephalus, Conjunctival telangiectasia, Iris coloboma, Hyperostosis, Corneal dystrophy, Heter... |
ORPHA:3205 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea |
OMIM:615877 |
Hajdu-Cheney Syndrome |
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Failure to thrive, Hydrocephalus, Thick eyebrow, Osteopenia, Foot acroosteolysis, Osteoporosis, P... |
OMIM:102500 |
Immunodeficiency 92 |
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Osteomyelitis, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyt... |
OMIM:619652 |
Mucopolysaccharidosis Type 4 |
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Corneal opacity, Joint hyperflexibility, Reduced bone mineral density |
ORPHA:582 |
Coloboma, Ocular, Autosomal Dominant |
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Peters anomaly, Corneal opacity, Ventriculomegaly |
OMIM:120200 |
Ophthalmomandibulomelic Dysplasia |
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Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Desmosterolosis |
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Failure to thrive, Hydrocephalus, Increased bone mineral density, Splenomegaly, Osteopetrosis, Do... |
ORPHA:35107 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hydrocephalus, Iris coloboma, Sclerocornea, Holoprosencephaly |
ORPHA:77298 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Decreased body weight, Abnormal cortical bone morphology, Hydrocephalus, Epicanthus |
OMIM:614886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Hydrocephalus, Cataract, Flexion contracture |
OMIM:615249 |
Vacterl Association With Hydrocephalus |
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Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis |
OMIM:276950 |
Distal 7Q11.23 Microduplication Syndrome |
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Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
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Downslanted palpebral fissures, Hydrocephalus, Ventriculomegaly, Joint hypermobility |
OMIM:616362 |
Dubowitz Syndrome |
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Hydrocephalus, Craniosynostosis, Eczema, Spina bifida occulta, Thrombocytopenia, Telecanthus, Abn... |
ORPHA:235 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... |
OMIM:211370 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Col... |
OMIM:615219 |
Shigellosis |
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Splenic abscess, Acute colitis, Corneal ulceration, Leukocytosis, Peritonitis, Abscess, Myocardit... |
ORPHA:810 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Short palpebral fissure, Camptodactyly of finger, Microcornea, Hydranencephaly, Ir... |
ORPHA:2839 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
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Downslanted palpebral fissures, Hydrocephalus, Ventriculomegaly, Ptosis |
OMIM:616355 |
Cogan Syndrome |
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Keratitis, Leukocytosis, Thrombocytosis, Uveitis, Anemia, Episcleritis, Conjunctivitis, Inflammat... |
ORPHA:1467 |
Microphthalmia With Brain And Digit Anomalies |
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Iris coloboma, Cataract, Microcornea, Sclerocornea |
ORPHA:139471 |
Kindler Epidermolysis Bullosa |
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Cheilitis, Colitis, Periodontitis, Corneal opacity, Flexion contracture, Recurrent skin infection... |
ORPHA:2908 |
Anterior Segment Dysgenesis 1 |
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Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Recessive X-Linked Ichthyosis |
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Opacification of the corneal stroma |
ORPHA:461 |
Blau Syndrome |
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Band keratopathy, Iritis, Camptodactyly of finger, Eczema, Arthritis, Uveitis, Flexion contractur... |
OMIM:186580 |
Congenital Disorder Of Deglycosylation 1 |
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Corneal ulceration, Corneal opacity, Decreased body weight, Osteoporosis, Decreased CSF albumin c... |
OMIM:615273 |
Neurotrophic Keratopathy |
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Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... |
ORPHA:137596 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Persistent Hyperplastic Primary Vitreous |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Keratitis, Blepharitis, Cheilitis, Corneal opacity, Failure to thrive, Absent eyebrow, Abnormal n... |
ORPHA:2273 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Obesity, Hydrocephalus, Ventriculomegaly, Splenomegaly |
OMIM:615630 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Corneal ulceration, Corneal scarring, Osteomyelitis, Recurrent corneal erosions, Opaci... |
OMIM:256800 |
Aase-Smith Syndrome I |
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Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Ptosis |
OMIM:147800 |
Desmosterolosis |
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Failure to thrive, Hydrocephalus, Joint contracture of the hand, Downslanted palpebral fissures, ... |
OMIM:602398 |
Cousin Syndrome |
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Hydrocephalus, Joint contracture of the hand, Short palpebral fissure, Microcornea, Camptodactyly... |
OMIM:260660 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
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Hydrocephalus, Camptodactyly of finger, Downslanted palpebral fissures, Bicoronal synostosis, Joi... |
OMIM:619951 |
Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Mucolipidosis Type Iv |
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Corneal opacity |
ORPHA:578 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Hydrocephalus, Bone cyst, Flexion contracture, Downslanted palpebral fissures, O... |
ORPHA:3042 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
Cardiofaciocutaneous Syndrome 1 |
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Failure to thrive, Hydrocephalus, Absent eyebrow, Splenomegaly, Hyperextensibility of the finger ... |
OMIM:115150 |
Beemer-Ertbruggen Syndrome |
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Thrombocytopenia, Increased bone mineral density, Communicating hydrocephalus |
ORPHA:1237 |
Lathosterolosis |
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Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Schistocytosis, Patholog... |
OMIM:607330 |
Gomez-Lopez-Hernandez Syndrome |
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Downslanted palpebral fissures, Opacification of the corneal stroma, Craniosynostosis |
OMIM:601853 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Absent eyebrow, Opacification of the corneal stroma, Recurrent corneal erosions, Ventr... |
OMIM:308205 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hydrocephalus, Blue irides, Calvarial hyperostosis, Small for gestational age, Epicanthus, Neonat... |
OMIM:101800 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Hydrocephalus, Small for gestational age, Upslanted palpebral fissure, Epicanthus, Cataract, Vent... |
OMIM:257300 |
Moebius Syndrome |
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Blepharitis, Corneal opacity, Epicanthus, Arthrogryposis multiplex congenita, Ptosis |
ORPHA:570 |
Osteootohepatoenteric Syndrome |
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Recurrent fractures, Hydrocephalus, Failure to thrive, Reduced bone mineral density, Weight loss,... |
OMIM:619377 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
Plasminogen Deficiency, Type I |
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Hydrocephalus, Periodontitis, Nephritis, Ventriculomegaly, Conjunctivitis, Dandy-Walker malformation |
OMIM:217090 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Corneal opacity, Flexion contracture, Generalized joint laxity, Oste... |
ORPHA:536471 |
Hydrolethalus Syndrome 2 |
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Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Chime Syndrome |
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Corneal opacity, Upslanted palpebral fissure, Epicanthus, Osteolysis, Acute leukemia, Ptosis |
ORPHA:3474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Hydrocephalus, Buphthalmos, Peters anomaly, Cataract, Ventriculomegaly, Encephalocele, Congenital... |
OMIM:613150 |
Thrombocytopenia-Absent Radius Syndrome |
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Carpal synostosis, Corneal opacity, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Thrombocytope... |
OMIM:274000 |
Coccidioidomycosis |
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Hydrocephalus, Pancreatitis, Hypoglycorrhachia, Abscess, Osteolysis, Pneumonia, Pericarditis, Ost... |
ORPHA:228123 |
Joubert Syndrome With Oculorenal Defect |
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Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis |
ORPHA:2318 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Hydrocephalus, Corneal opacity, Splenomegaly, Cachexia, Hepatosplenomegal... |
ORPHA:2072 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
1Q44 Microdeletion Syndrome |
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Hydrocephalus, Upslanted palpebral fissure, Telecanthus, Epicanthus, Ventriculomegaly, Synophrys |
ORPHA:238769 |
Brachymesomelia-Renal Syndrome |
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Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure |
OMIM:113470 |
Mucopolysaccharidosis, Type Vi |
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Joint stiffness, Hydrocephalus, Corneal opacity, Flexion contracture, Splenomegaly, Pneumonia, Ce... |
OMIM:253200 |
Joubert Syndrome With Renal Defect |
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Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis |
ORPHA:220497 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Hydrocephalus, Flexion contracture, Developmental cataract, Pterygium, Encephalocele, Limitation ... |
ORPHA:1865 |
Mucolipidosis Iii Gamma |
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Joint stiffness, Opacification of the corneal stroma |
OMIM:252605 |
Hepatoerythropoietic Porphyria |
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Corneal ulceration, Recurrent bacterial skin infections, Ectropion, Splenomegaly, Osteopenia, Seb... |
ORPHA:95159 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent fractures, Joint stiffness, Periodontitis, Cheilitis, Abnormal pupil morphology, Cornea... |
ORPHA:534 |
Icf Syndrome |
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Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils, Epicanthus, Anemia |
ORPHA:2268 |
Fanconi Anemia |
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Hydrocephalus, Short palpebral fissure, Abnormal eyelid morphology, Reduced bone mineral density,... |
ORPHA:84 |
Joubert Syndrome |
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Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis |
ORPHA:475 |
Histiocytoid Cardiomyopathy |
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Congenital aphakia, Hydrocephalus, Corneal opacity, Failure to thrive, Cyanosis, Megalocornea |
ORPHA:137675 |
Ifap Syndrome 2 |
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Keratitis, Posterior blepharitis, Cataract, Angular cheilitis, Keratoconjunctivitis sicca |
OMIM:619016 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Buphthalmos, Hydrocephalus, Cataract, Ventriculomegaly |
OMIM:616538 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Joint stiffness, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Aminopterin/Methotrexate Embryofetopathy |
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Hydrocephalus, Holoprosencephaly, Anencephaly, Epicanthus, Spinal dysraphism, Meningocele, Enceph... |
ORPHA:1908 |
Cerebrooculonasal Syndrome |
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Hydrocephalus, Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Epicanthus, Iris coloboma, Ven... |
OMIM:605627 |
Osteogenesis Imperfecta |
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Recurrent fractures, Hydrocephalus, Corneal opacity, Flexion contracture, Small for gestational a... |
ORPHA:666 |
Rodrigues Blindness |
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Microcornea, Sclerocornea |
OMIM:268320 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Hydrocephalus, Long palpebral fissure, Knee flexion contracture, Ptosis |
OMIM:603387 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Recurrent fractures, Hydrocephalus, Thick eyebrow, Craniosynostosis, Osteopenia, Osteoporosis, De... |
OMIM:245600 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract, Communicating hydrocephalus |
ORPHA:2119 |
Phacoanaphylactic Uveitis |
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Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
Peho Syndrome |
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Hydrocephalus, Flexion contracture, Palpebral edema, Epicanthus, Ventriculomegaly, Arthrogryposis... |
ORPHA:2836 |
3C Syndrome |
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Hydrocephalus, Downslanted palpebral fissures, Iris coloboma, Ventriculomegaly, Dandy-Walker malf... |
ORPHA:7 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Hydrocephalus, Opacification of the corneal stroma, Splenomegaly |
OMIM:231005 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Short eyelashes, Curly eyelashes, Chronic irritative conjunctivitis, Chronic neutr... |
OMIM:258360 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
1Q21.1 Microdeletion Syndrome |
|
Failure to thrive, Hydrocephalus, Epicanthus, Iris coloboma, Cataract, Joint hyperflexibility |
ORPHA:250989 |
Knobloch Syndrome |
|
Hydrocephalus, Epicanthus, Ectopia lentis, Cataract, Occipital encephalocele, Joint hyperflexibility |
ORPHA:1571 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Upslanted palpebral fissure, Thin eyebrow, Noncommunicating hydrocephalus, Narrow palpebral fissu... |
OMIM:619320 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Joint hyperflexibility |
ORPHA:2181 |
Tetrasomy 5P |
|
Failure to thrive, Hydrocephalus, Upslanted palpebral fissure, Cyanosis, Epicanthus |
ORPHA:3309 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Monosomy 9Q22.3 |
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Hydrocephalus, Large for gestational age, Downslanted palpebral fissures, Epicanthus, Cataract, V... |
ORPHA:77301 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Camptodactyly of finger, Iris coloboma, Hypoplasia of the iris, Coarse metaphyse... |
ORPHA:2092 |
Congenital Erythropoietic Porphyria |
|
Corneal ulceration, Recurrent bacterial skin infections, Ectropion, Splenomegaly, Osteopenia, Ani... |
ORPHA:79277 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Epicanthus, Ventriculomegaly |
OMIM:617866 |
Mucolipidosis Ii Alpha/Beta |
|
Failure to thrive, Sparse eyebrow, Craniosynostosis, Splenomegaly, Osteopenia, Myelopathy, Megalo... |
OMIM:252500 |
Fabry Disease |
|
Corneal opacity, Reduced bone mineral density, Conjunctival telangiectasia, Arthritis, Cataract, ... |
ORPHA:324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hydrocephalus, Ventriculomegaly |
OMIM:618476 |
Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Failure to thrive, Hydrocephalus, Joint hyperflexibility, Ventriculomegaly |
ORPHA:60040 |
Hutchinson-Gilford Progeria Syndrome |
|
Joint stiffness, Corneal ulceration, Corneal opacity, Absent eyebrow, Limitation of movement at a... |
ORPHA:740 |
Galactosialidosis |
|
Hepatosplenomegaly, Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Hydrocephalus, Chronic myelogenous leukemia, Corneal opacit... |
ORPHA:636 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Iris coloboma, Encephalocele, Highly arched eyebrow, Ptosis |
ORPHA:220493 |
Holoprosencephaly |
|
Hydrocephalus, Thick eyebrow, Holoprosencephaly, Upslanted palpebral fissure, Highly arched eyebr... |
ORPHA:2162 |
|