Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri... |
OMIM:604229 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia |
OMIM:616428 |
Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea |
OMIM:614303 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Aniridia 2 |
|
Cataract, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Glaucoma 1, Open Angle, A |
|
Abnormal iris vasculature |
OMIM:137750 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Premature graying of hair, Albinism, Numerous pigmented freckles, White ... |
OMIM:193510 |
Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea |
OMIM:620086 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis |
OMIM:103500 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Low-set ears, Conductive hearing impairment, High palate, Pulmonic stenosis, Po... |
OMIM:617877 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Low-set ears, Scoliosis, Coarctation of aorta, Conductive hearing... |
ORPHA:2780 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Meige Disease |
|
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Pedal edema, Atyp... |
ORPHA:90186 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Epicanthus, Pericardial lymphangiectasia, Lymphedema, Blepharophimosis, Pulmonary ... |
OMIM:616006 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia |
OMIM:606574 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs... |
ORPHA:1797 |
Follicular Lymphoma |
|
Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly |
ORPHA:545 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Scoliosis, Camptodactyly of finger, Short thorax, Short neck, ... |
ORPHA:2311 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,... |
ORPHA:137902 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Chorioretinal col... |
OMIM:601706 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... |
OMIM:619165 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Cataract, Lymphedema, Pulmonary lymphangiectasia, Telecanthus, Ptosis |
OMIM:247410 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Heart And Brain Malformation Syndrome |
|
Low-set ears, Camptodactyly of finger, Attached earlobe, Cleft lip, Ventricular septal defect, Po... |
OMIM:616920 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Scoliosis, Unilateral vertebral artery hypoplasia, Anal stenosis, Aplasia... |
OMIM:613686 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
22Q11.2 Duplication Syndrome |
|
Scoliosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted ao... |
ORPHA:1727 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... |
OMIM:610256 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Abnormal palate morphology, Atrial septal defect, Deep philtru... |
ORPHA:2475 |
Gms Syndrome |
|
Rieger anomaly |
ORPHA:2090 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pleural effusion, Hydrops fetalis, Absent eyelashes, Palpebral edema, Absent eyebrow, Abnormality... |
ORPHA:69735 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Arrhythmia, Capillary leak, Pericard... |
ORPHA:1041 |
D-Lactic Aciduria With Gout |
|
Aniridia |
OMIM:245450 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula |
ORPHA:370097 |
Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Scoliosis, Coarctation of aorta, Bifid uvula, Cleft lip, Atresia of the external au... |
OMIM:301022 |
Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... |
OMIM:615779 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Recurrent respiratory infections, Abnormality of the odontoid process, Vertebral fusion, Cystic h... |
OMIM:277300 |
Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Severe sensorineural hearing impairment, Reduced bone mineral ... |
ORPHA:2983 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Low-set ears, Cleft palate, A... |
ORPHA:1988 |
Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
Norrie Disease |
|
Cataract, Microphthalmia, Buphthalmos, Hypoplasia of the iris, Shallow anterior chamber, Corneal ... |
OMIM:310600 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Scoliosis, Hearing impairment, Cleft palate, Webbed neck, Conductive hea... |
ORPHA:2990 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
Cleidocranial Dysplasia |
|
Chronic otitis media, Scoliosis, Hearing impairment, Cleft palate, Supernumerary tooth, Carious t... |
ORPHA:1452 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... |
OMIM:128980 |
Arthrogryposis, Distal, Type 1C |
|
Increased nuchal translucency, High palate, Scoliosis, Retrognathia, Pursed lips, Bifid uvula, Sh... |
OMIM:619110 |
Chromomycosis |
|
Edema, Ectropion, Keratoconjunctivitis sicca, Lymphangiectasis, Atypical scarring of skin, Lymphe... |
ORPHA:182 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... |
OMIM:225200 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Acrocraniofacial Dysostosis |
|
Abnormality of the incus, Craniosynostosis, Pectus excavatum, Low-set, posteriorly rotated ears, ... |
ORPHA:949 |
Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Epicanthus, Generalized edema, Edema, Polyhydramnios, Periorbital edem... |
OMIM:616843 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy, Periorbital edema, Conjunctival hyperemia, Gastrointestinal hemorrhage,... |
OMIM:142680 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septal defect, ... |
OMIM:265380 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia |
OMIM:611638 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Aniridia 1 |
|
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Corneal erosion, Anterior su... |
OMIM:106210 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Macular hypopla... |
OMIM:610202 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Epicanthus, Astigmatism, Downslanted palpebral fissures, Upslanted palpebral fissure, L... |
OMIM:152950 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Carpenter Syndrome 1 |
|
Scoliosis, Agenesis of permanent teeth, Tetralogy of Fallot, Ventricular septal defect, Atrial se... |
OMIM:201000 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
3Mc Syndrome 1 |
|
Coronal craniosynostosis, Conductive hearing impairment, Cleft lip, Ventricular septal defect, At... |
OMIM:257920 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... |
OMIM:602482 |
American Trypanosomiasis |
|
Myocarditis, Edema, Arrhythmia, Periorbital edema, Cardiomyopathy, Lymphadenopathy, Congestive he... |
ORPHA:3386 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cleft palate, Narrow mouth, Thoracic scoliosis, Smooth philtrum, Kyphoscoliosis, Camptodactyly, C... |
OMIM:611209 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:120433 |
Isotretinoin Syndrome |
|
Sacral dimple, Cleft palate, Abnormality of the outer ear, Spina bifida occulta, Micrognathia, Mi... |
ORPHA:2305 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Gastrointestinal hemorrhage, Lymphedema, Abnormality of the lymphatic system... |
ORPHA:1414 |
Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Overfolded... |
OMIM:300373 |
Sprengel Deformity |
|
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... |
OMIM:184400 |
Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Pectus excavatum, Scoliosis, Abnormal palate morphology, Spina bifida,... |
ORPHA:3219 |
Acrofacial Dysostosis, Palagonia Type |
|
Low-set ears, Scoliosis, Oligodontia, Short neck, Unilateral cleft lip, Posteriorly rotated ears,... |
ORPHA:1787 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Butterfly vertebrae, Low-set ears, Esophageal atresia, Retrognathia, Duodenal a... |
OMIM:619227 |
Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology |
OMIM:105805 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Nasolacrimal Duct Cyst |
|
Narrow palpebral fissure, Abnormal lacrimal sac morphology, Periorbital edema, Dacryocystitis, Ce... |
ORPHA:141083 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vert... |
OMIM:608681 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Phaver Syndrome |
|
Pulmonary artery atresia, Butterfly vertebrae, Coarctation of aorta, Conductive hearing impairmen... |
ORPHA:2876 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... |
OMIM:614195 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Stapes ankylosis, Tetralogy of Fallot, Submucous cleft hard palate, Lobar holoprose... |
OMIM:614701 |
Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Oligodontia, Scoliosis, Ventricular septal defect, Atrial septal defect, Protein-losing enteropat... |
OMIM:235510 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Nonimmune hydrops fetalis, Facial telangiectasia in butterfly midface distribution, Epicanthus, T... |
OMIM:137940 |
Congenital Microcoria |
|
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... |
ORPHA:566 |
Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
Angioedema, Hereditary, 5 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619361 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Synostosis of carpal bones, Abnormal thorax morphology, Spina bifida occu... |
OMIM:102510 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... |
OMIM:609813 |
Arthrogryposis, Distal, Type 2A |
|
Scoliosis, Flexion contracture of finger, Hearing impairment, Shoulder flexion contracture, Abnor... |
OMIM:193700 |
Lacrimal Duct Defect |
|
Lacrimal duct atresia, Periorbital edema, Dacryocystitis, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Coarctation of aorta, Atrial septal defect, Posteriorly rotated ears, Sacral dimple... |
OMIM:615502 |
Lymphatic Malformation 1 |
|
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Cellulitis, Hypoplasia of lymphat... |
OMIM:153100 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Angioedema, Hereditary, 8 |
|
Laryngeal edema, Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619367 |
Three M Syndrome 1 |
|
Pectus excavatum, Short neck, Increased vertebral height, Short ribs, Mandibular prognathia, Scap... |
OMIM:273750 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Alagille Syndrome |
|
Protruding ear, Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery sten... |
ORPHA:52 |
Catel-Manzke Syndrome |
|
Chronic otitis media, Low-set, posteriorly rotated ears, Pectus excavatum, Scoliosis, Camptodacty... |
ORPHA:1388 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:613702 |
Lymphatic Malformation 3 |
|
Lymphedema, Cellulitis |
OMIM:613480 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Narrow mouth, Thin vermilion border, ... |
OMIM:617360 |
Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Camptodactyly of finger, Scoliosis, Abnormal pulmonary valve morphology, Te... |
ORPHA:1507 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Arthrogryposis multiplex congenita, Subdural hemorrhage, Abnormal pinna morphology, Sa... |
OMIM:618291 |
Carey-Fineman-Ziter Syndrome 2 |
|
Low-set ears, Scoliosis, Protruding ear, Posteriorly rotated ears, High, narrow palate, Dental cr... |
OMIM:619941 |
Cronkhite-Canada Syndrome |
|
Cataract, Lymphedema, Aplasia/Hypoplasia of the eyebrow, Splenomegaly |
ORPHA:2930 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Cafe-a... |
OMIM:611584 |
Angioedema, Hereditary, 4 |
|
Laryngeal edema, Facial edema, Angioedema |
OMIM:619360 |
Larsen Syndrome |
|
Spondylolysis, Scoliosis, Ventricular septal defect, Atrial septal defect, Hearing impairment, Cl... |
OMIM:150250 |
Lymphedema, Primary, With Myelodysplasia |
|
Epicanthus, Lymphedema, Cellulitis |
OMIM:614038 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal mitral valve morphology, Death in infan... |
ORPHA:1354 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia |
ORPHA:2440 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Stroke, Repeated pneumothoraces, Scoliosis, Atelectasis, ... |
ORPHA:536467 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... |
ORPHA:860 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Periorbital edema, Lymphadenopathy, Edema |
ORPHA:2483 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Scoliosis, Ventricular septal defect, Posteriorly rotated ears, Widely spaced teeth... |
OMIM:619717 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Lethal Kniest-Like Dysplasia |
|
Low-set ears, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, Abno... |
ORPHA:2347 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Periorbital edema, Lymphadenopathy, Flexion contracture, Conjunctivitis, Splenomeg... |
OMIM:617591 |
Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Open mouth, Retrognathia, Abnormality of the ear, Right aortic arch wit... |
OMIM:192430 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Prominent antitragus, High palate, Dextrocardia, Myelomeningoc... |
ORPHA:2437 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Coarctation of aorta, Spina bifida, Abno... |
ORPHA:1120 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Scoliosis, Nephrocalcinosis, Absent uvula, Bifid tongue, Hydronephrosis, Thoracic hemivertebrae, ... |
OMIM:268310 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Epicanthus, Hydrops fetalis, Upslanted palpebral fissure, Omphalocele, Atrial flutter, Lymphedema... |
OMIM:601927 |
Solar Urticaria |
|
Syncope, Periorbital edema, Edema, Angioedema |
ORPHA:97230 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1937 |
Distal Deletion 17Q |
|
Abnormality of the philtrum, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the uvula, ... |
ORPHA:1597 |
Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Splenomegaly |
OMIM:214900 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Myasthenic Syndrome, Congenital, 8 |
|
Weakness of facial musculature, Ptosis |
OMIM:615120 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Joint stiffness, Protruding ear, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1166 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Spina bifida occulta, Joint hyperflexibility, Precocious atherosclerosis, Joint hypermobi... |
ORPHA:230839 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... |
ORPHA:3232 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints, Sacral dimple, Anencephaly, Ab... |
OMIM:182940 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Mandibular prognathia, Cleft palate, Hearing impairment, Spina bifida occulta, ... |
OMIM:268850 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Microspherophakia, Deep anterior chamber |
OMIM:251750 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Craniosynostosis, Recurrent respiratory infections, Chronic otitis media, Scoliosis, Abnormality ... |
ORPHA:2314 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Periorbital edema, Lymphadenopathy |
OMIM:618048 |
Alg3-Cdg |
|
Macroglossia, High palate, Coarctation of the descending aortic arch, Abnormal pinna morphology, ... |
ORPHA:79321 |
Marcus Gunn Phenomenon |
|
Congenital ptosis, Unilateral ptosis |
OMIM:154600 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Scoliosis, Short neck, Broad philtrum, Low posterior hairline,... |
ORPHA:1394 |
Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Corneal ulceration, Recurrent corneal erosions, Ectropion, Distichiasi... |
OMIM:153400 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Syringomyelia, Craniosynostosis, Scoliosis, Conductive hearing impairment, Dextrocardia, Pyloric ... |
ORPHA:261197 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Distal Deletion 10Q |
|
Craniosynostosis, Pectus excavatum, Low-set ears, Lumbar hyperlordosis, Anal atresia, Protruding ... |
ORPHA:96148 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Bifid uvula, Kyphosis, Gingival overgrowth, Patent ductus arteriosus, Flexion contra... |
OMIM:618658 |
Schinzel-Giedion Syndrome |
|
Scoliosis, Abnormal cochlea morphology, Abnormal clavicle morphology, Large earlobe, Broad alveol... |
ORPHA:798 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu... |
ORPHA:2790 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Increased nuchal translucency, Low-set ears, Scoliosis, Coarctation of aorta, Anteriorly placed a... |
OMIM:618494 |
Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
Angioedema, Hereditary, 7 |
|
Facial edema, Angioedema |
OMIM:619366 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen |
ORPHA:33276 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Scoliosis, Low-set, posteriorly rotated ears, Camptodactyly of f... |
ORPHA:2635 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Intracranial hemorrhage, Lymphadenopathy, Lymphedema, Splenomegaly |
ORPHA:3226 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs... |
ORPHA:64755 |
Spondylocostal Dysostosis 5 |
|
Syringomyelia, Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missi... |
OMIM:122600 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Atrial sep... |
OMIM:253300 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Pectus excavatum, Tooth agenesis, Abnormal palate morphology, ... |
ORPHA:1786 |
2Q24 Microdeletion Syndrome |
|
Cataract, Microphthalmia, Abnormality iris morphology |
ORPHA:1617 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Median cleft lip and palate, Ventricular septal defect, Patent foramen ovale, Lobula... |
OMIM:269860 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect |
OMIM:614435 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Myasthenic Syndrome, Congenital, 15 |
|
Multiple joint contractures, Ptosis |
OMIM:616227 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... |
OMIM:180500 |
Genitopalatocardiac Syndrome |
|
Low-set ears, Right aortic arch, Ventricular septal defect, Cleft palate, Double outlet right ven... |
OMIM:231060 |
Rhizomelic Chondrodysplasia Punctata |
|
Scoliosis, Abnormality of the dentition, Spina bifida occulta, Epiphyseal stippling, Limitation o... |
ORPHA:177 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Anal atresia, Spina bifida, Short neck, Abnormality of the... |
ORPHA:2345 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Pulmon... |
OMIM:256050 |
Bronchogenic Cyst |
|
Syringomyelia, Abnormal pericardium morphology, Atelectasis, Abnormality of the neck, Abnormal pl... |
ORPHA:2357 |
Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... |
ORPHA:3163 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Scoliosis, Atrial septal defect, Cleft palate, Sprengel anomaly, Cleft upper lip, Short neck, Low... |
OMIM:213980 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Tooth malposition, Ventricular septal defect, Atrial septal ... |
ORPHA:97360 |
German Syndrome |
|
Camptodactyly of finger, Abnormal eyebrow morphology, Synophrys, Downslanted palpebral fissures, ... |
ORPHA:2077 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Reduced bone mineral density, Low-set, posteriorly rotated ears, Downturned corners of mouth, Spi... |
ORPHA:1185 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology... |
ORPHA:54 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles,... |
ORPHA:3216 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Short neck, Ventricular septal defect, Platyspondyly, Abnormal rib morphology, Down... |
ORPHA:93267 |
Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect |
ORPHA:2956 |
Congenital Rubella Syndrome |
|
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi... |
ORPHA:290 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Microcornea |
ORPHA:231736 |
Noonan Syndrome With Multiple Lentigines |
|
Pectus excavatum, Scoliosis, Low-set, posteriorly rotated ears, Severe sensorineural hearing impa... |
ORPHA:500 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma |
OMIM:616722 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Facial edema |
OMIM:155900 |
Transaldolase Deficiency |
|
Low-set ears, Coarctation of aorta, Short neck, Ventricular septal defect, Atrial septal defect, ... |
OMIM:606003 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Conductive hearing impairment, Short neck, Abnormal pinna morphology, Ventricular sept... |
OMIM:214300 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Synophrys, Polyhydramnios, Lymphedema, Upslanted palpebral fissure |
OMIM:618154 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Tethered cord, Spina bifida occulta |
OMIM:615281 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis |
OMIM:610023 |
Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Long clavicles, Cleft palate, Narrow mouth, Down-sloping shoulders, Camptodactyly of t... |
OMIM:265000 |
Nemaline Myopathy 9 |
|
High palate, Scoliosis, Ventricular septal defect, Cleft palate, Narrow chest, Micrognathia, Arth... |
OMIM:615731 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Carious teeth |
OMIM:101805 |
Distal Triplication 15Q |
|
Scoliosis, Atrial septal defect, Hypoplastic aortic arch, Abnormal heart morphology, Cupped ear, ... |
ORPHA:314588 |
Craniosynostosis 6 |
|
Craniosynostosis, Bicoronal synostosis, Scoliosis, Right unilambdoid synostosis, Spina bifida occ... |
OMIM:616602 |
Zimmermann-Laband Syndrome 1 |
|
Scoliosis, Cardiomyopathy, Hearing impairment, Aortic root aneurysm, Downturned corners of mouth,... |
OMIM:135500 |
Myasthenic Syndrome, Congenital, 18 |
|
Knee flexion contracture, Ptosis |
OMIM:616330 |
Rubinstein-Taybi Syndrome 1 |
|
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Perimembranou... |
OMIM:180849 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Scoliosis, Abnormality of the dentition, Abnormal rib morphology, Pe... |
ORPHA:3268 |
Dubowitz Syndrome |
|
Scoliosis, Protruding ear, Malabsorption, Hearing impairment, Rectal prolapse, Anal stenosis, Low... |
ORPHA:235 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Scoliosis, Persistence of primary teeth, M... |
OMIM:265900 |
Milroy Disease |
|
Epicanthus, Lymphedema, Cellulitis, Predominantly lower limb lymphedema, Pedal edema |
ORPHA:79452 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... |
OMIM:613195 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Scoliosis, Retrognathia, Protruding ear, Bifid uvula, Ventricular septal defe... |
OMIM:301030 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma |
DECIPHER:42 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormally prominent line of Schwalbe, Rieger anomaly |
OMIM:109120 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Scoliosis, Hydrocephalus, Ankyloglossia, Interrupted aortic arch, Long philtrum, Sen... |
ORPHA:250989 |
Neuronal Intranuclear Inclusion Disease |
|
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Thymic Tumor |
|
Cardiac arrest, Edema, Neoplasm of the thymus, Palpebral edema, Mediastinal lymphadenopathy, Peri... |
ORPHA:100100 |
Poland Syndrome |
|
Dextrocardia, Short ribs, Hemivertebrae, Sprengel anomaly, Rib fusion |
OMIM:173800 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Anal atresia, Anteriorly placed anus, Ventricular septal defe... |
OMIM:146510 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Low-set ears, High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Micrognathia |
OMIM:608363 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:300915 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Hydrops fetalis, Umbilical hernia, Lymphedema, Corneal opacity, Splenomegaly, As... |
ORPHA:584 |
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Limited elbow extension, High palate, Scoliosis, Kyphoscoliosis, Abnormal heart morphology, Heari... |
ORPHA:93359 |
Loeys-Dietz Syndrome 4 |
|
Scoliosis, Broad uvula, Bifid uvula, Arterial tortuosity, Spondylolisthesis, Pneumothorax, Mitral... |
OMIM:614816 |
Osteogenesis Imperfecta, Type I |
|
Finger joint hypermobility, Aortic aneurysm, Osteopenia, Hearing impairment, Biconcave flattened ... |
OMIM:166200 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Cog1-Cdg |
|
Rib fusion, Low-set, posteriorly rotated ears, Butterfly vertebrae, High palate, Broad neck, Shor... |
ORPHA:263508 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, High palate, Thoracic kyphosis, Ovoid vertebral bodies, Short nec... |
ORPHA:163649 |
Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cleft palate, Microglossia, Knee flexion contracture, Prominent scalp veins, Hyperextensibility o... |
OMIM:151050 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Chylous Ascites |
|
Lymphedema, Ascites |
ORPHA:1160 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Lymphedema, Telecanthus |
ORPHA:1563 |
Proteus Syndrome |
|
Downslanted palpebral fissures, Lipoma, Limbal dermoid, Multiple lipomas, Splenomegaly, Ptosis, L... |
OMIM:176920 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta, Anteriorly placed anus, Ethmoidal encephalocele, Abnormal rib morphology, A... |
ORPHA:280195 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morphology, Hypoplasia of the ... |
ORPHA:2479 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta, Generalized osteosclerosis, Short ribs, Advanced ossification... |
OMIM:215045 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de... |
OMIM:617478 |
Fibrochondrogenesis 1 |
|
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Cleft palate, Narrow mouth, Patent for... |
OMIM:228520 |
3Mc Syndrome |
|
Craniosynostosis, Low-set ears, Scoliosis, Limited pronation/supination of forearm, Prominent coc... |
ORPHA:293843 |
Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
Noonan Syndrome 13 |
|
Blue irides, Epicanthus, Mitral regurgitation, Downslanted palpebral fissures, Broad eyebrow, Hig... |
OMIM:619087 |
Cantu Syndrome |
|
Epicanthus, Curly eyelashes, Long eyelashes, Umbilical hernia, Pericardial effusion, Lymphedema |
OMIM:239850 |
Frontometaphyseal Dysplasia |
|
Oligodontia, Scoliosis, Camptodactyly of finger, Bifid uvula, Abnormal heart morphology, Hearing ... |
ORPHA:1826 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Shield chest, Interrup... |
OMIM:300712 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
Wolf-Hirschhorn Syndrome |
|
Chronic otitis media, Aplasia/Hypoplasia of the lungs, Scoliosis, Atrial septal defect, Hearing i... |
ORPHA:280 |
Lymphatic Malformation 4 |
|
Lymphedema, Pedal edema, Cellulitis |
OMIM:615907 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Hypoplasia of the iris, Chorioretinal coloboma |
ORPHA:1422 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Scoliosis, Conductive hearing impairment, Joint stiffness, Bifid uvula, Submuco... |
OMIM:108300 |
Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Lymphedema |
ORPHA:3137 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Oculopharyngeal Muscular Dystrophy |
|
Facial palsy, Progressive ptosis, Ptosis |
OMIM:164300 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym... |
OMIM:184460 |
Charge Syndrome |
|
Abnormal soft palate morphology, Scoliosis, Tetralogy of Fallot, Interrupted aortic arch, Hearing... |
ORPHA:138 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Reduced bone mineral density, Coarctation of aorta, Joint stiff... |
OMIM:620210 |
Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Recurrent sinopulmonary infections, Chronic otitis media, Atrial situs am... |
ORPHA:244 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Pulmonary lymphangiectasia, Polyhydramnios, Downslanted palpebral fissures, Thyr... |
OMIM:235255 |
Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect, Carpal synos... |
OMIM:157800 |
Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
Monosomy 18P |
|
Hypertension, Epicanthus, Lymphedema, Ptosis |
ORPHA:1598 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Sacrococcygeal pilonidal abnormality, Spina bifida occulta, Limitation of joint mobility |
ORPHA:2840 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Delayed calcaneal ossification, Bifid uvula... |
OMIM:183900 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Camptodactyly of finger, Bifid uvula, Irregular vertebral endplates, Joint contractu... |
OMIM:612350 |
Cerebrocostomandibular Syndrome |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Cleft palate, Carious teeth, 11 pairs... |
OMIM:117650 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency, Hearing impairment |
ORPHA:2291 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology |
ORPHA:782 |
Zttk Syndrome |
|
Scoliosis, Protruding ear, Bifid uvula, Ventricular septal defect, Atrial septal defect, Narrow m... |
OMIM:617140 |
Leopard Syndrome 1 |
|
Pectus excavatum, Low-set ears, Protruding ear, Short neck, Pulmonic stenosis, Missing ribs, Post... |
OMIM:151100 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Unilateral cleft lip, Ventricular septal defect, Multiple prenatal fractures, Cleft palate, Decre... |
OMIM:616897 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Widely spaced teeth, Hyperplasia of the maxilla, Cl... |
OMIM:617616 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Scoliosis, Bifid uvula, Abnormal heart morphology, Cleft palate, Narrow mou... |
OMIM:218600 |
Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short neck, Kyphosis, Osteopenia, Pectus carinatum, Squared-off platyspondyly, Back pa... |
OMIM:271530 |
Igg4-Related Ophthalmic Disease |
|
Abnormal morphology of bony orbit of skull, Periorbital edema, Abnormality of the orbital region,... |
ORPHA:449563 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Freckles in sun-exposed areas, Albinism, Hypopigmentation o... |
OMIM:203200 |
Fryns Syndrome |
|
Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Low-set, posteriorly rotated ears,... |
ORPHA:2059 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Emanuel Syndrome |
|
Scoliosis, Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect, Submu... |
ORPHA:96170 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Malar flatteni... |
ORPHA:79113 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Abnormality of the odontoid process, Low-set ears, High palate, Short neck, Ven... |
OMIM:609654 |
Lymphedema-Distichiasis Syndrome |
|
Cataract, Corneal erosion, Ectropion, Distichiasis, Arrhythmia, Conjunctivitis, Predominantly low... |
ORPHA:33001 |
Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, High palate, Coarctation of aorta, Hypoplastic coccygeal vertebrae, Ret... |
OMIM:105650 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Aorta Coarctation |
|
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... |
ORPHA:1457 |
Woolly Hair |
|
Cataract, Hypopigmentation of hair, Abnormal pupil morphology |
ORPHA:170 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract, Inguinal hernia, Epicanthus, Umbilical hernia, Ptosis |
ORPHA:1373 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
High-frequency hearing impairment, Recurrent bronchitis, Otitis media, Atelectasis |
OMIM:300455 |
Waldenström Macroglobulinemia |
|
Vasculitis, Periorbital edema, Gastrointestinal hemorrhage, Lymphadenopathy, Congestive heart fai... |
ORPHA:33226 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Scoliosis, Spina bifida occulta, Lambdoidal craniosynostosis |
OMIM:618736 |
Deafness, Progressive, With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
ORPHA:3235 |
Woolly Hair Nevus |
|
Persistent pupillary membrane, Patchy hypopigmentation of hair, Heterochromia iridis |
ORPHA:79414 |
Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Ventricular septal defect, Atrial septal defect, Osteoarthritis, Cleft palate, Spond... |
OMIM:615582 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Pectus excavatum, Low-set ears, Retrognathia, High palate, Broad neck, Short neck, Thoracolumbar ... |
OMIM:300472 |
Campomelia, Cumming Type |
|
Lymphedema, Polysplenia |
OMIM:211890 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Joint stiffness, Trismus, Vertebral wedging, Platyspondyly, Beaking of vertebral bodi... |
OMIM:616583 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Lymphedema, Hypoplasia of lymphatic vessels |
ORPHA:662 |
Ring Chromosome 22 Syndrome |
|
Epicanthus, Edema, Thick eyebrow, Lymphedema, Pleural effusion |
ORPHA:1446 |
Lateral Meningocele Syndrome |
|
Scoliosis, Smooth philtrum, Conductive hearing impairment, Short neck, Malar flattening, Hyperlor... |
ORPHA:2789 |
Megalocornea-Mental Retardation Syndrome |
|
Megalocornea, Hypoplasia of the iris, Iridodonesis |
OMIM:249310 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Cervical lymphadenopathy |
ORPHA:514 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Torticollis, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Micrognathia |
ORPHA:1514 |
Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Coarctation of aorta, Anteriorly placed anus, Bifid uvula, Tetralogy of Fallot, Ven... |
OMIM:617159 |
Noonan Syndrome 2 |
|
Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Cardiomyopathy, H... |
OMIM:605275 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
Distal Deletion 6P |
|
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... |
ORPHA:96125 |
Myasthenic Syndrome, Congenital, 13 |
|
Ptosis |
OMIM:614750 |
Recombinant Chromosome 8 Syndrome |
|
Pectus excavatum, Scoliosis, Low-set ears, Abnormality of the dentition, Camptodactyly, Tetralogy... |
OMIM:179613 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Mosaic Trisomy 14 |
|
High palate, Low-set, posteriorly rotated ears, Short neck, Cleft palate, Abnormal rib morphology... |
ORPHA:1703 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Scoliosis, Ventricular septal defect, Atrial septal defect, Prominent median palatal raph... |
ORPHA:363705 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Death in childhood, Retrognathia, Bifid uvula, Short neck, Hydrocephalus, Umbilical hernia, Ventr... |
OMIM:612938 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Cleft palate, Platyspondyly, Sensorineural hearing impairment, Pierre-Robin sequence, Premature o... |
OMIM:184840 |
Mucopolysaccharidosis, Type Iva |
|
Cervical myelopathy, Grayish enamel, Scoliosis, Cervical subluxation, Widely spaced teeth, Hearin... |
OMIM:253000 |
Multiple Synostoses Syndrome 1 |
|
Enlargement of the costochondral junction, Pectus excavatum, Conductive hearing impairment, Stape... |
OMIM:186500 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Pectus excavatum, Scoliosis, Coarctation of aorta, Narrow maxilla, Aorti... |
OMIM:617602 |
Femoral-Facial Syndrome |
|
Scoliosis, Ventricular septal defect, Cleft palate, Smooth philtrum, Sprengel anomaly, Truncus ar... |
OMIM:134780 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Scoliosis, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect,... |
OMIM:617506 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
2p15-16.1 microdeletion syndrome |
|
Downslanted palpebral fissures, Camptodactyly of finger, Telecanthus, Ptosis |
DECIPHER:70 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Inguinal hernia, Downslanted palpebral fissures, Periorbital edema, Underdeveloped su... |
ORPHA:363659 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... |
OMIM:609223 |
Diabetic Embryopathy |
|
Spinal dysraphism, Abnormal sacrum morphology, Low-set, posteriorly rotated ears, Tetralogy of Fa... |
ORPHA:1926 |
Sweeney-Cox Syndrome |
|
Median cleft palate, Uplifted earlobe, Low-set ears, Anal atresia, High palate, Broad neck, Wide ... |
OMIM:617746 |
Fanconi Anemia, Complementation Group B |
|
Low-set ears, Esophageal atresia, Coarctation of aorta, Duodenal atresia, Short neck, Tracheoesop... |
OMIM:300514 |
Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Bifid uvula, Lumbar scoliosis, Hyperextensibility at wrists, Hyperext... |
OMIM:601492 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Bifid uvula, Tetralogy of Fallo... |
OMIM:607872 |
Lateral Meningocele Syndrome |
|
Scoliosis, Ventricular septal defect, Cleft palate, Smooth philtrum, Conductive hearing impairmen... |
OMIM:130720 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... |
OMIM:617300 |
Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... |
OMIM:618734 |
8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Atrioventricular canal defect, Complete atrio... |
ORPHA:508488 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris |
OMIM:600092 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the ciliary body, Microcoria, Microphthalmia, Hypoplasia of the iris, Pos... |
OMIM:609049 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, High palate, Ventricular septal defect, Deep philtrum, Everted... |
ORPHA:261120 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry... |
ORPHA:1473 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Microphthalmia, Hypoplasia of the iris, Sclerocornea, Limbal dermoid |
OMIM:613001 |
16P13.11 Microduplication Syndrome |
|
Craniosynostosis, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal... |
ORPHA:261243 |
Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Localized osteoporosis, Cleft palate, Hump-shaped mound of bone in central and posteri... |
ORPHA:93284 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Partial albinism, Iris hypopigmentation, White hair |
ORPHA:79476 |
Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Craniosynostosis, Low-set ears, Anal atresia, Lop ear, Atrial septal defect, Peripheral pulmonary... |
OMIM:300707 |
Spondylo-Ocular Syndrome |
|
Low-set ears, Thoracic kyphosis, Short neck, Ventricular septal defect, Abnormal antihelix morpho... |
ORPHA:85194 |
Digeorge Syndrome |
|
Scoliosis, Atelectasis, Right aortic arch with mirror image branching, Tetralogy of Fallot, Bifid... |
OMIM:188400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Long clavicles, Ventricular septal defect, Atrial septal defect, Abnormality of the co... |
ORPHA:96334 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Atelectasis, Recurrent lower respiratory tract infections, Recurre... |
OMIM:616726 |
Cluster Headache, Familial |
|
Edema, Ptosis |
OMIM:119915 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Periorbital edema, Fasciitis, Lymphadenopathy, Cellulitis, Conjunctivitis, Pericardit... |
ORPHA:32960 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Fg Syndrome Type 1 |
|
Generalized joint laxity, Atrial septal defect, Cupped ear, Mitral valve prolapse, Malrotation of... |
ORPHA:93932 |
Duane-Radial Ray Syndrome |
|
Anal atresia, Scoliosis, Ventricular septal defect, Slit-like opening of the exterior auditory me... |
OMIM:607323 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Bifid uvula |
ORPHA:2669 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
Melorheostosis |
|
Atypical scarring of skin, Lymphedema |
ORPHA:2485 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Low-set ears, Anal atresia, Coarctation of aorta, Dextrocardia, Median cleft lip a... |
OMIM:264480 |
Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Corneal opacity, Abnormal e... |
ORPHA:163934 |
Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
Arthrogryposis, Distal, Type 3 |
|
Down-sloping shoulders, Pectus excavatum, Scoliosis, Lumbar hyperlordosis, High palate, Bifid uvu... |
OMIM:114300 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Iris hypopigmentation, Generalized hypopigmentation, Genera... |
ORPHA:352731 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Tongue edema, Palpebral edema, Abnor... |
ORPHA:100057 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Periorbital edema, Splenomegaly |
OMIM:272200 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia, Telangiectasia of the skin, Lymphedema, Hypertrophic cardiomyopathy |
ORPHA:79279 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Sensorineural hearing impairment, Bifid uvula, Cleft palate |
OMIM:618768 |
Fountain Syndrome |
|
Facial edema |
OMIM:229120 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Low-set ears, Coarctation of aorta, Ventricular septal defect, Atr... |
OMIM:600987 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Absent eyelashes, Palpebral edema, Absent eyebrow, Predominantly lower... |
OMIM:607823 |
Kbg Syndrome |
|
Oligodontia, Vertebral fusion, Thoracic kyphosis, Protruding ear, Short neck, Posteriorly rotated... |
OMIM:148050 |
Thanatophoric Dysplasia |
|
Increased nuchal translucency, Low-set ears, Joint stiffness, Hydrocephalus, Atrial septal defect... |
ORPHA:2655 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Noonan Syndrome 10 |
|
Increased nuchal translucency, Pectus excavatum, Scoliosis, Coarctation of aorta, Low-set ears, H... |
OMIM:616564 |
Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, High-output congestive heart failure, Facial capillary hemangioma, Tel... |
ORPHA:137667 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Hypoplastic iris stroma, Premature graying of hair, White eyelashes, Partial albinis... |
OMIM:193500 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Arteriovenous malformation, Mandibular prognathia, Abnormal ao... |
ORPHA:1110 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Scoliosis, Tooth malposition, Solitary median maxillary central incisor, Hearing imp... |
ORPHA:2712 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Abnormality of cartilage of external ear, Hypopla... |
ORPHA:3426 |
Familial Exudative Vitreoretinopathy |
|
Cataract, Vitreous hemorrhage, Macular telangiectasia, Lymphedema, Retinal neovascularization, Ma... |
ORPHA:891 |
Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Grayish enamel, Scoliosis, Cervical subluxation, Widely spaced teeth, Hearin... |
OMIM:253010 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Coarctation of aorta, Interrupted aortic arch |
OMIM:107550 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Increased nuchal translucency, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Atr... |
ORPHA:93274 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Intracr... |
ORPHA:163979 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate |
ORPHA:506353 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Oligodontia, Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Atrioventri... |
ORPHA:453499 |
Poland Syndrome |
|
Scoliosis, Atrial septal defect, Asymmetry of the thorax, Finger symphalangism, Sprengel anomaly,... |
ORPHA:2911 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Inguinal hernia, Polyhydramnios, Fetal ascites, Lymphedema |
OMIM:620014 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Duane Retraction Syndrome |
|
Camptodactyly, External ear malformation, Short neck, Low posterior hairline, Hearing impairment,... |
ORPHA:233 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Osteoporosis, ... |
ORPHA:371428 |
Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Scoliosis, Kyphosis, Hearing impairment, Biconcave flattened verteb... |
OMIM:166220 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Arthrogryposis multiplex congenita, Lymphedema |
OMIM:616342 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
Williams Syndrome |
|
Stroke, Chronic otitis media, Scoliosis, Protruding ear, Tetralogy of Fallot, Abnormality of the ... |
ORPHA:904 |
Lymphangioleiomyomatosis |
|
Shagreen patch, Chylopericardium, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Ly... |
ORPHA:538 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula, Hearing impairment |
OMIM:256200 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
Smith-Magenis Syndrome |
|
Scoliosis, Abnormality of the dentition, Mandibular prognathia, Abnormal heart morphology, Hearin... |
OMIM:182290 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris |
ORPHA:169090 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Narrow chest, Bifid uvula |
OMIM:300850 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Low-set ears, Retrognathia, Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomen... |
ORPHA:280679 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Abnormality of the inner ear, Branchial fistula, Atresia of the ex... |
ORPHA:52429 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Butterfly vertebrae, Vertebral fusion, Ventricular septal defect, Missing rib... |
OMIM:206900 |
Limb Body Wall Complex |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Cleft palate, Progres... |
ORPHA:2369 |
Truncus Arteriosus |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... |
ORPHA:3384 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Arterial Tortuosity Syndrome |
|
Pectus excavatum, Scoliosis, High palate, Aortic root aneurysm, Generalized arterial tortuosity, ... |
OMIM:208050 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin... |
OMIM:221300 |
22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Abnormal pulmonary valve morphology, Scoliosis, Atelectasis, Tetralogy of F... |
ORPHA:567 |
Chromosome 18Q Deletion Syndrome |
|
Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Ventricular septal defect, Atrial septal defe... |
OMIM:601808 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Ground-glass opacification, Recurrent respiratory infections, Atelectasis, Ventricular septal def... |
OMIM:610978 |
Joubert Syndrome 14 |
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Encephalocele, Open mouth, Low-set ears, Renal cyst, Meningocele, Malar flattening, Posteriorly r... |
OMIM:614424 |
Adducted Thumbs Syndrome |
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Craniosynostosis, High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, A... |
OMIM:201550 |
Ritscher-Schinzel Syndrome 1 |
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Low-set ears, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Hydro... |
OMIM:220210 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... |
OMIM:108900 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Aniridia |
OMIM:194072 |
Donnai-Barrow Syndrome |
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Cataract, Hypoplasia of the iris, Iris coloboma |
OMIM:222448 |
Lowry-Maclean Syndrome |
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Craniosynostosis, Midgut malrotation, Low-set ears, Coarctation of aorta, Retrognathia, Pyloric s... |
ORPHA:2409 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Conjunctivitis, Lymphadenopathy, Splenomegaly, Edema |
OMIM:603552 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Death in childhood, Low-set ears, Short neck, Short ribs, Deep philtrum, Severe platyspondyly, De... |
OMIM:613320 |
Stickler Syndrome Type 1 |
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Osteoarthritis, Cleft palate, Platyspondyly, Abnormality of vertebral epiphysis morphology, Long ... |
ORPHA:90653 |
Oculocutaneous Albinism Type 4 |
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Hypoplasia of the fovea, Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigm... |
ORPHA:79435 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Osteoporosis, Platyspondyly, Delayed eruption of teeth, Sensorineural hearing impairment, Short p... |
ORPHA:71267 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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Bifid uvula, Protruding ear, Short neck, Posteriorly rotated ears, Mandibular prognathia, Death i... |
OMIM:618622 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
You-Hoover-Fong Syndrome |
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Pectus excavatum, Coarctation of aorta, Accessory oral frenulum, Hearing impairment, Double aorti... |
OMIM:616954 |
Myotubular Myopathy With Abnormal Genital Development |
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High palate, Retrognathia, Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hyperm... |
OMIM:300219 |
Maternal Uniparental Disomy Of Chromosome X |
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Flexion contracture, Camptodactyly of finger, Congestive heart failure, Predominantly lower limb ... |
ORPHA:261519 |
Branchiogenic-Deafness Syndrome |
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Abnormality of the middle ear ossicles, Trismus, Mixed hearing impairment, Submucous cleft hard p... |
OMIM:609166 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Low-set ears, Coarctation of aorta, Short ribs, Pulmonary hypopla... |
ORPHA:50945 |
Klippel-Trenaunay-Weber Syndrome |
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Lymphedema, Lymphangioma |
OMIM:149000 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Hepatosplenomegaly, Epicanthus, Mitral regurgitation, Polyhydramnios, Downslanted palpebral fissu... |
OMIM:613563 |